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2021: PRF Program-Related Publications
Telomerase therapy reverses vascular senescence and extends lifespan in progeria mice

Mojiri A, Walther BK, Jiang C, Matrone G, Holgate R, Xu Q, Morales E, Wang G, Gu J, Wang R, Cooke JP. Eur Heart J. 2021 Aug 14:ehab547. doi: 10.1093/eurheartj/ehab547. Epub ahead of print. PMID: 34389865..

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Inhibition of the NLRP3 inflammasome improves lifespan in animal murine model of Hutchinson-Gilford Progeria

González-Dominguez A, Montañez R, Castejón-Vega B, Nuñez-Vasco J, Lendines-Cordero D, Wang C, Mbalaviele G, Navarro-Pando JM, Alcocer-Gómez E, Cordero MD. EMBO Mol Med. 2021 Aug 27:e14012. doi: 10.15252/emmm.202114012. Epub ahead of print. PMID: 34448355.

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Isoprenylcysteine Carboxylmethyltransferase-Based Therapy for Hutchinson-Gilford Progeria Syndrome

Marcos-Ramiro B, Gil-Ordóñez A, Marín-Ramos NI, Ortega-Nogales FJ, Balabasquer M, Gonzalo P, Khiar-Fernández N, Rolas L, Barkaway A, Nourshargh S, Andrés V, Martín-Fontecha M, López-Rodríguez ML, Ortega-Gutiérrez S. ACS Cent Sci. 2021 Aug 25;7(8):1300-1310. doi: 10.1021/acscentsci.0c01698. Epub 2021 Jun 27. PMID: 34471675; PMCID: PMC8393201.

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Small-Molecule Therapeutic Perspectives for the Treatment of Progeria

Macicior J, Marcos-Ramiro B, Ortega-Gutiérrez S. Int J Mol Sci. 2021 Jul 3;22(13):7190. doi: 10.3390/ijms22137190. PMID: 34281245; PMCID: PMC8267806.

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Impact of Progerin Expression on Adipogenesis in Hutchinson-Gilford Progeria Skin-Derived Precursor Cells

Najdi F, Krüger P, Djabali K. Cells. 2021 Jun 25;10(7):1598. doi: 10.3390/cells10071598. PMID: 34202258; PMCID: PMC8306773.

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Baricitinib, a JAK-STAT Inhibitor, Reduces the Cellular Toxicity of the Farnesyltransferase Inhibitor Lonafarnib in Progeria Cells – PubMed (nih.gov)

Arnold R, Vehns E, Randl H, Djabali K. Int J Mol Sci. 2021 Jul 12;22(14):7474. doi: 10.3390/ijms22147474. PMID: 34299092; PMCID: PMC8307450.

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Molecular and Cellular Mechanisms Driving Cardiovascular Disease in Hutchinson-Gilford Progeria Syndrome: Lessons Learned from Animal Models.

Benedicto I, Dorado B, Andrés V. Cells. 2021 May 11;10(5):1157. doi: 10.3390/cells10051157. PMID: 34064612; PMCID: PMC8151355.

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Mechanisms of angiogenic incompetence in Hutchinson-Gilford progeria via downregulation of endothelial NOS.

Gete YG, Koblan LW, Mao X, Trappio M, Mahadik B, Fisher JP, Liu DR, Cao K. Aging Cell. 2021 Jun 4:e13388. doi: 10.1111/acel.13388. Epub ahead of print. PMID: 34086398.

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Decreased vascular smooth muscle contractility in Hutchinson-Gilford Progeria Syndrome linked to defective smooth muscle myosin heavy chain expression.

von Kleeck R, Castagnino P, Roberts E, Talwar S, Ferrari G, Assoian RK. Decreased vascular smooth muscle contractility in Hutchinson-Gilford Progeria Syndrome linked to defective smooth muscle myosin heavy chain expression. Sci Rep. 2021 May 19;11(1):10625. doi: 10.1038/s41598-021-90119-4. PMID: 34012019.

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The progeria research foundation 10 th international scientific workshop; researching possibilities, ExTENding lives – webinar version scientific summary.

Leslie B Gordon, Kelsey Tuminelli, Vicente Andrés, Judith Campisi, Mark W Kieran, Lynn Doucette, Audrey S Gordon. Aging (Albany NY). 2021 Mar 17;13(6):9143-9151. doi: 10.18632/aging.202835. Epub 2021 Mar 17.

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A targeted antisense therapeutic approach for Hutchinson-Gilford progeria syndrome

Michael R Erdos, Wayne A Cabral, Urraca L Tavarez, Kan Cao, Jelena Gvozdenovic-Jeremic, Narisu Narisu, Patricia M Zerfas, Stacy Crumley, Yoseph Boku, Gunnar Hanson, Dan V Mourich, Ryszard Kole, Michael A Eckhaus, Leslie B Gordon, Francis S Collins. Nat Med. 2021 Mar;27(3):536-545. doi: 10.1038/s41591-021-01274-0. Epub 2021 Mar 11.

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Systematic screening identifies therapeutic antisense oligonucleotides for Hutchinson-Gilford progeria syndrome

Madaiah Puttaraju, Michaela Jackson, Stephanie Klein, Asaf Shilo, C Frank Bennett, Leslie Gordon, Frank Rigo, Tom Misteli.
Nat Med. 2021 Mar;27(3):526-535. doi: 10.1038/s41591-021-01262-4. Epub 2021 Mar 11.

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Paclitaxel mitigates structural alterations and cardiac conduction system defects in a mouse model of Hutchinson-Gilford progeria syndrome

Álvaro Macías, J Jaime Díaz-Larrosa, Yaazan Blanco, Víctor Fanjul, Cristina González-Gómez, Pilar Gonzalo, María Jesús Andrés-Manzano, Andre Monteiro da Rocha, Daniela Ponce-Balbuena, Andrew Allan, David Filgueiras-Rama, José Jalife, Vicente Andrés. Cardiovasc Res. 2021 Feb 24;cvab055. doi: 10.1093/cvr/cvab055. Online ahead of print.

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Nuclear Pore Complexes Cluster in Dysmorphic Nuclei of Normal and Progeria Cells during Replicative Senescence

Jennifer M Röhrl, Rouven Arnold, Karima Djabali. Cells. 2021 Jan 14;10(1):153. doi: 10.3390/cells10010153.

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Lifelong restriction of dietary branched-chain amino acids has sex-specific benefits for frailty and lifespan in mice

Nicole E Richardson, Elizabeth N Konon, Haley S Schuster, Alexis T Mitchell, Colin Boyle, Allison C Rodgers, Megan Finke, Lexington R Haider, Deyang Yu, Victoria Flores, Heidi H Pak, Soha Ahmad, Sareyah Ahmed, Abigail Radcliff, Jessica Wu, Elizabeth M Williams, Lovina Abdi, Dawn S Sherman, Timothy Hacker, Dudley W Lamming
Nat Aging . 2021 Jan;1(1):73-86.
doi: 10.1038/s43587-020-00006-2. Epub 2021 Jan 14.

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A small-molecule ICMT inhibitor delays senescence of Hutchinson-Gilford progeria syndrome cells

Xue Chen, Haidong Yao, Muhammad Kashif, Gwladys Revêchon, Maria Eriksson, Jianjiang Hu, Ting Wang, Yiran Liu, Elin Tüksammel, Staffan Strömblad, Ian M Ahearn, Mark R Philips, Clotilde Wiel, Mohamed X Ibrahim, Martin O Bergo. Elife. 2021 Feb 2;10:e63284. doi: 10.7554/eLife.63284.

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Interleukin-6 neutralization ameliorates symptoms in prematurely aged mice

Stefano Squarzoni, Elisa Schena , Patrizia Sabatelli, Elisabetta Mattioli, Cristina Capanni , Vittoria Cenni, Maria Rosaria D’Apice, Davide Andrenacci, Giuseppe Sarli, Valeria Pellegrino, Anna Festa, Fabio Baruffaldi, Gianluca Storci, Massimiliano Bonafè, Catia Barboni , Mara Sanapo, Anna Zaghini, Giovanna Lattanzi. . Aging Cell. 2021 Jan 3; e13285. doi: 10.1111/acel.13285.

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Progerinin, an optimized progerin-lamin A binding inhibitor, ameliorates premature senescence phenotypes of Hutchinson-Gilford progeria syndrome

So-Mi Kang, Min-Ho Yoon, Jinsook Ahn, Ji-Eun Kim, So Young Kim, Seock Yong Kang, Jeongmin Joo, Soyoung Park, Jung-Hyun Cho, Tae-Gyun Woo, Ah-Young Oh, Kyu Jin Chung, So Yon An, Tae Sung Hwang, Soo Yong Lee, Jeong-Su Kim, Nam-Chul Ha, Gyu-Yong Song, Bum-Joon Park. Commun Biol. 2021 Jan 4;4(1):5. doi: 10.1038/s42003-020-01540-w.

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In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice

Luke W Koblan, Michael R Erdos, Christopher Wilson, Wayne A Cabral, Jonathan M Levy, Zheng-Mei Xiong, Urraca L Tavarez, Lindsay M Davison, Yantenew G Gete, Xiaojing Mao, Gregory A Newby, Sean P Doherty, Narisu Narisu, Quanhu Sheng, Chad Krilow, Charles Y Lin, Leslie B Gordon, Kan Cao, Francis S Collins, Jonathan D Brown, David R Liu. Nature. 2021 Jan 6.doi: 10.1038/s41586-020-03086-7.

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2020: PRF Program-Related Publications
Targeting RAS-converting enzyme 1 overcomes senescence and improves progeria-like phenotypes of ZMPSTE24 deficiency

Haidong Yao, Xue Chen, Muhammad Kashif, Ting Wang, Mohamed X Ibrahim, Elin Tüksammel, Gwladys Revêchon, Maria Eriksson, Clotilde Wiel, Martin O Bergo.
Aging Cell. 2020 Aug;19(8):e13200. doi: 10.1111/acel.13200. Epub 2020 Jul 24.

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Epigenetic deregulation of lamina-associated domains in Hutchinson-Gilford progeria syndrome

Florian Köhler, Felix Bormann, Günter Raddatz, Julian Gutekunst, Samuel Corless, Tanja Musch, Anke S Lonsdorf, Sylvia Erhardt, Frank Lyko, Manuel Rodríguez-Paredes. Genome Med. 2020 May 25;12(1):46.
doi: 10.1186/s13073-020-00749-y.

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PML2-mediated thread-like nuclear bodies mark late senescence in Hutchinson-Gilford progeria syndrome

Ming Wang, Lulu Wang, Minxian Qian, Xiaolong Tang, Zuojun Liu, Yiwei Lai, Ying Ao, Yinghua Huang, Yuan Meng, Lei Shi, Linyuan Peng, Xinyue Cao, Zimei Wang, Baoming Qin, Baohua Liu. Aging Cell. 2020 Jun;19(6):e13147. doi: 10.1111/acel.13147. Epub 2020 Apr 29.

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Neuropeptide Y Enhances Progerin Clearance and Ameliorates the Senescent Phenotype of Human Hutchinson-Gilford Progeria Syndrome Cells

Célia A Aveleira, Marisa Ferreira-Marques, Luísa Cortes, Jorge Valero, Dina Pereira, Luís Pereira de Almeida, Cláudia Cavadas. J Gerontol A Biol Sci Med Sci. 2020 May 22;75(6):1073 -1078.doi: 10.1093/gerona/glz280.

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Interplay of the nuclear envelope with chromatin in physiology and pathology

Romina Burla, Mattia La Torre, Klizia Maccaroni, Fiametta Verni, Simona Giunta, Isabella Saggio. Nucleus. 2020 Dec;11(1):205-218.  doi: 10.1080/19491034.2020.1806661.

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Lamin A involvement in ageing processes

Vittoria Cenni, Cristina Capanni, Elisabetta Mattioli, Elisa Schena, Stefano Squarzoni, Maria Giulia Bacalini, Paolo Garagnani, Stefano Salvioli, Claudio Franceschi, Giovanna Lattanzi. Ageing Res Rev. 2020 Sep; 62:101073. doi: 10.1016/j.arr.2020.101073. Epub 2020 May 21.

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iPSC-Derived Endothelial Cells Affect Vascular Function in a Tissue-Engineered Blood Vessel Model of Hutchinson-Gilford Progeria Syndrome

Leigh Atchison, Nadia O Abutaleb, Elizabeth Snyder-Mounts, Yantenew Gete, Alim Ladha, Thomas Ribar, Kan Cao, George A Truskey. Stem Cell Reports. 2020 Feb 11;14(2):325-337. doi: 10.1016/j.stemcr.2020.01.005. Epub 2020 Feb 6.

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Evaluation of musculoskeletal phenotype of the G608G progeria mouse model with lonafarnib, pravastatin, and zoledronic acid as treatment groups

Maria B Cubria, Sebastian Suarez, Aidin Masoudi, Ramin Oftadeh, Pramod Kamalapathy, Amanda DuBose, Michael R Erdos, Wayne A Cabral, Lamya Karim, Francis S Collins, Brian Snyder, Ara Nazarian. Proc Natl Acad Sci U S A. 2020 Jun 2;117(22):12029-12040. doi: 10.1073/pnas.1906713117. Epub 2020 May 13.

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Identification of common cardiometabolic alterations and deregulated pathways in mouse and pig models of aging

Víctor Fanjul, Inmaculada Jorge, Emilio Camafeita, Álvaro Macías, Cristina González-Gómez, Ana Barettino, Beatriz Dorado, María Jesús Andrés-Manzano, José Rivera-Torres, Jesús Vázquez, Carlos López-Otin, Vicente Andrés. Aging Cell. 2020 Sep;19(9): e13203. doi: 10.1111/acel.13203. Epub 2020 Jul 30.

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Phosphorylated Lamin A/C in the Nuclear Interior Binds Active Enhancers Associated with Abnormal Transcription in Progeria

Kohta Ikegami, Stefano Secchia, Omar Almakki, Jason D Lieb, Ivan P Moskowitz. Dev Cell. 2020 Mar 23;52(6):699-713.e11. doi: 10.1016/j.devcel.2020.02.011.

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Cytoskeleton stiffness regulates cellular senescence and innate immune response in Hutchinson-Gilford Progeria Syndrome

Xiaodong Mu, Chieh Tseng, William S Hambright, Polina Matre, Chih-Yi Lin, Palas Chanda, Wangun Chen, Jianhua Gu, Sudheer Ravuri, Yan Cui, Ling Zhong, John P Cooke, Laura J Niedernhofer, Paul D Robbins, Johnny Huard. Aging Cell. 2020 Aug;19(8): e13152. doi: 10.1111/acel.13152. Epub 2020 Jul 25.

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First progeria monkey model generated using base editor

Pradeep Reddy, Yanjiao Shao, Reyna Hernandez-Benitez, Estrella Nuñez Delicado, Juan Carlos Izpisua Belmonte. Protein Cell. 2020 Dec;11(12):862-865. doi: 10.1007/s13238-020-00765-z.

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Skeletal maturation and long-bone growth patterns of patients with progeria: a retrospective study

Andy Tsai, Patrick R Johnston, Leslie B Gordon, Michele Walters, Monica Kleinman, Tal Laor. Lancet Child Adolesc Health. 2020 Apr;4(4):281-289. doi: 10.1016/S2352-4642(20)30023-7. Epub 2020 Feb 28.

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Peroxisomal abnormalities and catalase deficiency in Hutchinson-Gilford Progeria Syndrome

Xiaojing Mao, Pratima Bharti, Abhirami Thaivalappil, Kan Cao. Aging (Albany NY). 2020 Mar 18;12(6):5195-5208. doi: 10.18632/aging.102941. Epub 2020 Mar 18.

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Chromatin and Cytoskeletal Tethering Determine Nuclear Morphology in Progerin-Expressing Cells

Maria Chiara Lionetti, Silvia Bonfanti, Maria Rita Fumagalli, Zoe Budrikis, Francesc Font-Clos, Giulio Costantini, Oleksandr Chepizhko, Stefano Zapperi, Caterina. A M La Porta Biophys J. 2020 May 5;118(9):2319-2332.  doi: 10.1016/j.bpj.2020.04.001. Epub 2020 Apr 14.

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Dietary magnesium supplementation improves lifespan in a mouse model of progeria

Ricardo Villa-Bellosta.  EMBO Mol Med. 2020 Oct 7;12(10): e12423. doi: 10.15252/emmm.202012423. Epub 2020 Aug 16.

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Redox theory in progeria

Ricardo Villa-Bellosta. Aging (Albany NY). 2020 Oct 31;12(21):20934-20935. doi: 10.18632/aging.104211. Epub 2020 Oct 31.

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SAMMY-seq reveals early alteration of heterochromatin and deregulation of bivalent genes in Hutchinson-Gilford Progeria Syndrome

Endre Sebestyén, Fabrizia Marullo, Federica Lucini, Cristiano Petrini, Andrea Bianchi, Sara Valsoni, Ilaria Olivieri, Laura Antonelli, Francesco Gregoretti, Gennaro Oliva, Francesco Ferrari, Chiara Lanzuolo. Nat Commun. 2020 Dec 8;11(1):6274. doi: 10.1038/s41467-020-20048-9.

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2019: PRF Program-Related Publications
New treatments for progeria.

Ricardo Villa-Bellosta. 2019 Dec 22;11(24):11801-11802.doi: 10.18632/aging.102626. Epub 2019 Dec 22

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Healthspan and lifespan extension by fecal microbiota transplantation into progeroid mice

Clea Bárcena, Rafael Valdés-Mas, Pablo Mayoral, Cecilia Garabaya, Sylvère Durand, Francisco Rodríguez, María Teresa Fernández-García, Nuria Salazar, Alicja M Nogacka, Nuria Garatachea, Noélie Bossut, Fanny Aprahamian, Alejandro Lucia, Guido Kroemer, José M P Freije, Pedro M Quirós, Carlos López-Otín. Nat Med. 2019 Aug;25(8):1234-1242. doi: 10.1038/s41591-019-0504-5. Epub 2019 Jul 22.

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Single-dose CRISPR-Cas9 therapy extends lifespan of mice with Hutchinson-Gilford progeria syndrome

Ergin Beyret, Hsin-Kai Liao, Mako Yamamoto, Reyna Hernandez-Benitez, Yunpeng Fu, Galina Erikson, Pradeep Reddy, Juan Carlos Izpisua Belmonte. Nat Med. 2019 Mar;25(3): 419-422.doi: 10.1038/s41591-019-0343-4. Epub 2019 Feb 18.

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Imbalanced nucleocytoskeletal connections create common polarity defects in progeria and physiological aging

Wakam Chang, Yuexia Wang, G W Gant Luxton, Cecilia Östlund, Howard J Worman, Gregg G Gundersen. Proc Natl Acad Sci U S A. 2019 Feb 26;116(9):3578-3583. doi: 10.1073/pnas.1809683116. Epub 2019 Feb 11.

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Metabolomic profiling suggests systemic signatures of premature aging induced by Hutchinson-Gilford progeria syndrome

Gustavo Monnerat, Geisa Paulino Caprini Evaristo, Joseph Albert Medeiros Evaristo, Caleb Guedes Miranda Dos Santos, Gabriel Carneiro, Leonardo Maciel, Vânia Oliveira Carvalho, Fábio César Sousa Nogueira, Gilberto Barbosa Domont, Antonio Carlos Campos de Carvalho. Metabolomics. 2019 Jun 28;15(7):100. doi: 10.1007/s11306-019-1558-6.

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Analysis of somatic mutations identifies signs of selection during in vitro aging of primary dermal fibroblasts

Narisu Narisu, Rebecca Rothwell, Peter Vrtačnik, Sofía Rodríguez, John Didion, Sebastian Zöllner, Michael R Erdos, Francis S Collins, Maria Eriksson. Aging Cell. 2019 Dec;18(6):e13010. doi: 10.1111/acel.13010. Epub 2019 Aug 5.

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Generation and characterization of a novel knockin minipig model of Hutchinson-Gilford progeria syndrome

Beatriz Dorado, Gro Grunnet Pløen, Ana Barettino, Alvaro Macías, Pilar Gonzalo, María Jesús Andrés-Manzano, Cristina González-Gómez, Carlos Galán-Arriola, José Manuel Alfonso, Manuel Lobo, Gonzalo J López-Martín, Antonio Molina, Raúl Sánchez-Sánchez, Joaquín Gadea, Javier Sánchez-González, Ying Liu, Henrik Callesen, David Filgueiras-Rama, Borja Ibáñez, Charlotte Brandt Sørensen, Vicente Andrés. Cell Discov. 2019 Mar 19; 5:16. doi: 10.1038/s41421-019-0084-z. eCollection 2019.

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Extraskeletal Calcifications in Hutchinson-Gilford Progeria Syndrome

C M Gordon, R H Cleveland, K Baltrusaitis, J Massaro, R B D’Agostino Sr, M G Liang, B Snyder, M Walters, X Li, D T Braddock, M E Kleinman, M W Kieran, L B Gordon. Bone. 2019 Aug; 125:103 -111.doi: 10.1016/j.bone.2019.05.008. Epub 2019 May 8.

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Vascular smooth muscle cell loss underpins the accelerated atherosclerosis in Hutchinson-Gilford progeria syndrome

Magda R Hamczyk, Vicente Andrés. Nucleus. 2019 Dec;10(1):28-34. doi: 10.1080/19491034.2019.1589359.

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Progerin accelerates atherosclerosis by inducing endoplasmic reticulum stress in vascular smooth muscle cells

Magda R Hamczyk, Ricardo Villa-Bellosta, Víctor Quesada, Pilar Gonzalo, Sandra Vidak, Rosa M Nevado, María J Andrés-Manzano, Tom Misteli, Carlos López-Otín, Vicente Andrés. EMBO Mol Med. 2019 Apr;11(4): e9736. doi: 10.15252/emmm.201809736.

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Transient introduction of human telomerase mRNA improves hallmarks of progeria cells

Yanhui Li, Gang Zhou, Ivone G Bruno, Ning Zhang, Sei Sho, Enzo Tedone, Tsung-Po Lai, John P Cooke, Jerry W Shay. Aging Cell. 2019 Aug;18(4):e12979.  doi: 10.1111/acel.12979. Epub 2019 May 31.

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Remodeling of Bone Marrow Hematopoietic Stem Cell Niches Promotes Myeloid Cell Expansion during Premature or Physiological Aging

Ya-Hsuan Ho, Raquel Del Toro, José Rivera-Torres, Justyna Rak, Claudia Korn, Andrés García-García, David Macías, Cristina González-Gómez, Alberto Del Monte, Monika Wittner, Amie K Waller, Holly R Foster, Carlos López-Otín, Randall S Johnson, Claus Nerlov, Cedric Ghevaert, William Vainchenker, Fawzia Louache, Vicente Andrés, Simón Méndez-Ferrer. Cell Stem Cell. 2019 Sep 5;25(3):407-418.e6. doi: 10.1016/j.stem.2019.06.007. Epub 2019 Jul 11.

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Dysfunction of iPSC-derived endothelial cells in human Hutchinson-Gilford progeria syndrome

Gianfranco Matrone, Rajarajan A Thandavarayan, Brandon K Walther, Shu Meng, Anahita Mojiri, John P Cooke. Cell Cycle. 2019 Oct;18(19):2495-2508. doi: 10.1080/15384101.2019.1651587. Epub 2019 Aug 14.

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Development of a CRISPR/Cas9-based therapy for Hutchinson-Gilford progeria syndrome

Olaya Santiago-Fernández, Fernando G Osorio, Víctor Quesada, Francisco Rodríguez, Sammy Basso, Daniel Maeso, Loïc Rolas, Anna Barkaway, Sussan Nourshargh, Alicia R Folgueras, José M P Freije, Carlos López-Otín. Nat Med. 2019 Mar;25(3): 423-426.doi: 10.1038/s41591-018-0338-6. Epub 2019 Feb 18.

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Physicochemical mechanotransduction alters nuclear shape and mechanics via heterochromatin formation

Andrew D Stephens, Patrick Z Liu, Viswajit Kandula, Haimei Chen, Luay M Almassalha, Cameron Herman, Vadim Backman, Thomas O’Halloran, Stephen A Adam, Robert D Goldman, Edward J Banigan, John F Marko. Mol Biol Cell. 2019 Aug 1;30(17):2320-2330. doi: 10.1091/mbc. E19-05-0286.

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Restoring extracellular matrix synthesis in senescent stem cells

Na Rong, Panagiotis Mistriotis, Xiaoyan Wang, Georgios Tseropoulos, Nika Rajabian, Yali Zhang, Jianmin Wang, Song Liu, Stelios T Andreadis. FASEB J. 2019 Oct;33(10):10954-10965.  doi: 10.1096/fj.201900377R. Epub 2019 Jul 9.

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ATP-based therapy prevents vascular calcification and extends longevity in a mouse model of Hutchinson-Gilford progeria syndrome

Ricardo Villa-Bellosta. Proc Natl Acad Sci U S A. 2019 Nov 19;116(47):23698-23704.doi: 10.1073/pnas.1910972116. Epub 2019 Nov 5

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Impact of acetate- or citrate-acidified bicarbonate dialysate on ex vivo aorta wall calcification

Ricardo Villa-Bellosta, Eduardo Hernández-Martínez, Eva Mérida-Herrero, Emilio González-Parra. Sci Rep. 2019 Aug 6;9(1):11374. doi: 10.1038/s41598-019-47934-7.

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Questioning the Safety of Calcidiol in Hemodialysis Patients

Ricardo Villa-Bellosta, Ignacio Mahillo-Fernández, Alberto Ortíz, Emilio González-Parra. Nutrients. 2019 Apr 26;11(5):959. doi: 10.3390/nu11050959.

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2018: PRF Program-Related Publications
Methionine Restriction Extends Lifespan in Progeroid Mice and Alters Lipid and Bile Acid Metabolism

Clea Bárcena, Pedro M Quirós, Sylvère Durand, Pablo Mayoral, Francisco Rodríguez, Xurde M Caravia, Guillermo Mariño, Cecilia Garabaya, María Teresa Fernández-García, Guido Kroemer, José M P Freije, Carlos López-Otín. Cell Rep. 2018 Aug 28;24(9):2392-2403. doi: 10.1016/j.celrep.2018.07.089.

Ricardo Villa-Bellosta. 2019 Dec 22;11(24):11801-11802.doi: 10.18632/aging.102626. Epub 2019 Dec 22

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A Cell-Intrinsic Interferon-like Response Links Replication Stress to Cellular Aging Caused by Progerin

Ray Kreienkamp, Simona Graziano, Nuria Coll-Bonfill, Gonzalo Bedia-Diaz, Emily Cybulla, Alessandro Vindigni, Dale Dorsett, Nard Kubben, Luis Francisco Zirnberger Batista, Susana Gonzalo Cell Rep. 2018 Feb 20;22(8):2006-2015. doi: 10.1016/j.celrep.2018.01.090.

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Microbiome at sites of gingival recession in children with Hutchinson-Gilford progeria syndrome

Seyed Hossein Bassir, Isabelle Chase, Bruce J Paster, Leslie B Gordon, Monica E Kleinman, Mark W Kieran, David M Kim, Andrew Sonis. J Periodontol. 2018 Jun;89(6):635-644. doi: 10.1002/JPER.17-0351.

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Predicting age from the transcriptome of human dermal fibroblasts

Jason G Fleischer, Roberta Schulte, Hsiao H Tsai, Swati Tyagi, Arkaitz Ibarra, Maxim N Shokhirev, Ling Huang, Martin W Hetzer, Saket Navlakha. Genome Biol. 2018 Dec 20;19(1):221. doi:10.1186/s13059-018-1599-6.

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p53 isoforms regulate premature aging in human cells

Natalia von Muhlinen, Izumi Horikawa, Fatima Alam, Kazunobu Isogaya, Delphine Lissa, Borek Vojtesek, David P Lane, Curtis C Harris. Oncogene. 2018 May;37(18):2379-2393. doi: 10.1038/s41388-017-0101-3. Epub 2018 Feb 12.

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Identification of novel PDEδ interacting proteins

Philipp Küchler, Gunther Zimmermann, Michael Winzker, Petra Janning, Herbert Waldmann, Slava Ziegler Bioorg. Med Chem. 2018 May 1;26(8):1426-1434.  doi: 10.1016/j.bmc.2017.08.033. Epub 2017 Aug 31.

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Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts

Amanda J DuBose, Stephen T Lichtenstein, Noreen M Petrash, Michael R Erdos, Leslie B Gordon, Francis S Collins. Proc Natl Acad Sci U S A. 2018 Apr 17;115(16):4206-4211. doi: 10.1073/pnas.1802811115. Epub 2018 Mar 26.

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Genomic instability and DNA replication defects in progeroid syndromes

Romina Burla, Mattia La Torre, Chiara Merigliano, Fiammetta Verní, Isabella Saggio. Nucleus. 2018 Dec 31;9(1):368-379. doi: 10.1080/19491034.2018.1476793. Epub 2018 Jun 23.

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Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies

Steve Horvath, Junko Oshima, George M Martin, Ake T Lu, Austin Quach, Howard Cohen, Sarah Felton, Mieko Matsuyama, Donna Lowe, Sylwia Kabacik, James G Wilson, Alex P Reiner, Anna Maierhofer, Julia Flunkert, Abraham Aviv, Lifang Hou, Andrea A Baccarelli, Yun Li, James D Stewart, Eric A Whitsel, Luigi Ferrucci, Shigemi Matsuyama, Kenneth Raj. Aging (Albany NY). 2018 Jul 26;10(7):1758-1775.  doi: 10.18632/aging.101508.

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Targeting the phospholipase A2 receptor ameliorates premature aging phenotypes

Audrey Griveau, Clotilde Wiel, Benjamin Le Calvé, Dorian V Ziegler, Sophia Djebali, Marine Warnier, Nadine Martin, Jacqueline Marvel, David Vindrieux, Martin O Bergo, David Bernard. Aging Cell. 2018 Dec;17(6):e12835.

doi: 10.1111/acel.12835. Epub 2018 Sep 14.

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Mouse Models to Disentangle the Hallmarks of Human Aging

Alicia R Folgueras, Sandra Freitas-Rodríguez, Gloria Velasco, Carlos López-Otín. Circ Res. 2018 Sep14;123(7):905-924. doi: 10.1161/CIRCRESAHA.118.312204.

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Survey of plasma proteins in children with progeria pre-therapy and on-therapy with lonafarnib

Leslie B Gordon, Susan E Campbell, Joseph M Massaro, Ralph B D’Agostino Sr, Monica E Kleinman, Mark W Kieran, Marsha A Moses. Pediatr Res. 2018 May;83(5):982-992. doi: 10.1038/pr.2018.9. Epub 2018 Feb 28.

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Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome

Leslie B Gordon, Heather Shappell, Joe Massaro, Ralph B D’Agostino Sr, Joan Brazier, Susan E Campbell, Monica E Kleinman, Mark W Kieran. JAMA. 2018 Apr 24;319(16):1687-1695. doi: 10.1001/jama.2018.3264.

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Pubertal Progression in Female Adolescents with Progeria

Maya Mundkur Greer, Monica E Kleinman, Leslie B Gordon, Joe Massaro, Ralph B D’Agostino Sr, Kristin Baltrusaitis, Mark W Kieran, Catherine M Gordon. J Pediatr Adolesc Gynecol. 2018 Jun;31(3):238-241. doi: 10.1016/j.jpag.2017.12.005. Epub 2017 Dec 16.

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Accelerated atherosclerosis in HGPS

Magda R Hamczyk, Vicente Andrés. Aging (Albany NY). 2018 Oct 21;10(10):2555-2556. doi: 10.18632/aging.101608.

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Autophagic Removal of Farnesylated Carboxy-Terminal Lamin Peptides

Xiang Lu, Karima Djabali. Cells. 2018 Apr 23;7(4):33. doi: 10.3390/cells7040033.

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Vascular Smooth Muscle-Specific Progerin Expression Accelerates Atherosclerosis and Death in a Mouse Model of Hutchinson-Gilford Progeria Syndrome

Magda R Hamczyk, Ricardo Villa-Bellosta, Pilar Gonzalo, María J Andrés-Manzano, Paula Nogales, Jacob F Bentzon, Carlos López-Otín, Vicente Andrés. Circulation. 2018 Jul 17;138(3):266-282. doi: 10.1161/CIRCULATIONAHA.117.030856. Epub 2018 Feb 28.

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Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

Davor Lessel, Ayse Bilge Ozel, Susan E Campbell, Abdelkrim Saadi, Martin F Arlt, Keisha Melodi McSweeney, Vasilica Plaiasu, Katalin Szakszon, Anna Szőllős, Cristina Rusu, Armando J Rojas, Jaime Lopez-Valdez, Holger Thiele, Peter Nürnberg, Deborah A Nickerson, Michael J Bamshad, Jun Z Li, Christian Kubisch, Thomas W Glover, Leslie B Gordon. Hum Genet. 2018 Dec;137(11-12):921-939. doi: 10.1007/s00439-018-1957-1. Epub 2018 Nov 19.

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Endothelial progerin expression causes cardiovascular pathology through an impaired mechanoresponse

Selma Osmanagic-Myers, Attila Kiss, Christina Manakanatas, Ouafa Hamza, Franziska Sedlmayer, Petra L Szabo, Irmgard Fischer, Petra Fichtinger, Bruno K Podesser, Maria Eriksson, Roland Foisner. J Clin Invest. 2019 Feb 1;129(2):531-545. doi: 10.1172/JCI121297. Epub 2018 Dec 18.

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Smurf2 regulates stability and the autophagic-lysosomal turnover of lamin A and its disease-associated form progerin

Aurora Paola Borroni, Andrea Emanuelli, Pooja Anil Shah, Nataša Ilić, Liat Apel-Sarid, Biagio Paolini, Dhanoop Manikoth Ayyathan, Praveen Koganti, Gal Levy-Cohen, Michael Blank. Aging Cell. 2018 Apr;17(2):e12732.  doi: 10.1111/acel.12732. Epub 2018 Feb 5.

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Cardiac Abnormalities in Patients With Hutchinson-Gilford Progeria Syndrome

Ashwin Prakash, Leslie B Gordon, Monica E Kleinman, Ellen B Gurary, Joseph Massaro, Ralph D’Agostino Sr, Mark W Kieran, Marie Gerhard-Herman, Leslie Smoot. JAMA Cardiol. 2018 Apr 1;3(4):326-334. doi: 10.1001/jamacardio.2017.5235.

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OGT ( O-GlcNAc Transferase) Selectively Modifies Multiple Residues Unique to Lamin A

Dan N Simon, Amanda Wriston, Qiong Fan, Jeffrey Shabanowitz, Alyssa Florwick, Tejas Dharmaraj, Sherket B Peterson, Yosef Gruenbaum, Cathrine R Carlson, Line M Grønning-Wang, Donald F Hunt, Katherine L Wilson. Cells. 2018 May 17;7(5):44. doi: 10.3390/cells7050044.

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Nuclear import pathway key to rescuing dominant progerin phenotypes

Katherin L Wilson. Sci Signal. 2018 Jul 3;11(537): eaat9448. doi: 10.1126/scisignal.aat9448.

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Differential stem cell aging kinetics in Hutchinson-Gilford progeria syndrome and Werner syndrome

Zeming Wu, Weiqi Zhang, Moshi Song, Wei Wang, Gang Wei, Wei Li, Jinghui Lei, Yu Huang, Yanmei Sang, Piu Chan, Chang Chen, Jing Qu, Keiichiro Suzuki, Juan Carlos Izpisua Belmonte, Guang-Hui Liu.

Protein Cell. 2018 Apr;9(4):333-350. doi: 10.1007/s13238-018-0517-8. Epub 2018 Feb 23.

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Progerin phosphorylation in interphase is lower and less mechanosensitive than lamin-A,C in iPS-derived mesenchymal stem cells

Sangkyun Cho, Amal Abbas, Jerome Irianto, Irena L Ivanovska, Yuntao Xia, Manu Tewari, Dennis E Discher. Nucleus. 2018 Jan 1;9(1):230-245.  doi: 10.1080/19491034.2018.1460185.

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Diminished Canonical β-Catenin Signaling During Osteoblast Differentiation Contributes to Osteopenia in Progeria

Ji Young Choi, Jim K Lai, Zheng-Mei Xiong, Margaret Ren, Megan C Moorer, Joseph P Stains, Kan Cao. J Bone Miner Res. 2018 Nov;33(11):2059-2070. doi: 10.1002/jbmr.3549. Epub 2018 Aug 1.

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Mice with reduced expression of the telomere-associated protein Ft1 develop p53-sensitive progeroid traits

Mattia La Torre, Chiara Merigliano, Romina Burla, Carla Mottini, Giorgia Zanetti, Simona Del Giudice, Mariateresa Carcuro, Ilaria Virdia, Elisabetta Bucciarelli, Isabella Manni, Gianluca Rampioni Vinciguerra, Giulia Piaggio, Mara Riminucci, Ana Cumano, Armando Bartolazzi, Fiammetta Vernì, Silvia Soddu, Maurizio Gatti, Isabella Saggio. Aging Cell. 2018 Aug;17(4):e12730. doi: 10.1111/acel.12730. Epub 2018 Apr 10.

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2017: PRF Program-Related Publications
Nucleolar expansion and elevated protein translation in premature aging

Abigail Buchwalter, Martin W Hetzer. Nat Commun. 2017 Aug 30;8(1):328.  doi: 10.1038/s41467-017-00322-z.

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Cross-linked matrix rigidity and soluble retinoids synergize in nuclear lamina regulation of stem cell differentiation

Irena L Ivanovska, Joe Swift, Kyle Spinler, Dave Dingal, Sangkyun Cho, Dennis E Discher. Mol Biol Cell. 2017 Jul 7;28(14):2010-2022.  doi: 10.1091/mbc.E17-01-0010. Epub 2017 May 31.

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Functional relevance of miRNAs in premature ageing

Xurde M Caravia, David Roiz-Valle, Alba Morán-Álvarez, Carlos López-Otín. Mech Ageing Dev. 2017 Dec; 168:10-19. doi: 10.1016/j.mad.2017.05.003. Epub 2017 May 11.

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Reprogramming progeria fibroblasts re-establishes a normal epigenetic landscape

Zhaoyi Chen, Wing Y Chang, Alton Etheridge, Hilmar Strickfaden, Zhigang Jin, Gareth Palidwor, Ji-Hoon Cho, Kai Wang, Sarah Y Kwon, Carole Doré, Angela Raymond, Akitsu Hotta, James Ellis, Rita A Kandel, F Jeffrey Dilworth, Theodore J Perkins, Michael J Hendzel, David J Galas, William L Stanford. Aging Cell. 2017 Aug;16(4):870-887. doi: 10.1111/acel.12621. Epub 2017 Jun 8.

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A-type lamins and cardiovascular disease in premature aging syndromes

Beatriz Dorado, Vicente Andrés. Curr Opin Cell Biol. 2017 Jun;46:17-25. doi: 10.1016/j.ceb.2016.12.005. Epub 2017 Jan 10.

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LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes

Alyssa Florwick, Tejas Dharmaraj, Julie Jurgens, David Valle, Katherine L Wilson.

Front Genet. 2017 Jun 15;8:79. doi: 10.3389/fgene.2017.00079. eCollection 2017.

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Intermittent treatment with farnesyltransferase inhibitor and sulforaphane improves cellular homeostasis in Hutchinson-Gilford progeria fibroblasts

Diana Gabriel, Dinah Dorith Shafry, Leslie B Gordon, Karima Djabali. Oncotarget. 2017 Jul 18;8(39):64809-64826. doi: 10.18632/oncotarget.19363. eCollection 2017 Sep 12.

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Aging in the Cardiovascular System: Lessons from Hutchinson-Gilford Progeria Syndrome

Magda R Hamczyk, Lara del Campo, Vicente Andrés. Annu Rev Physiol. 2018 Feb 10;80:27-48. doi: 10.1146/annurev-physiol-021317-121454. Epub 2017 Sep 20.

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Progerin sequestration of PCNA promotes replication fork collapse and mislocalization of XPA in laminopathy-related progeroid syndromes

Benjamin A Hilton, Ji Liu, Brian M Cartwright, Yiyong Liu, Maya Breitman, Youjie Wang, Rowdy Jones, Hui Tang, Antonio Rusinol, Phillip R Musich, Yue Zou. FASEB J. 2017 Sep;31(9):3882-3893. doi: 10.1096/fj.201700014R. Epub 2017 May 17.

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Telomerase mRNA Reverses Senescence in Progeria Cells

Yanhui Li, Gang Zhou, Ivone G Bruno, John P Cooke. J Am Coll Cardiol Actions. 2017 Aug 8;70(6):804-805. doi: 10.1016/j.jacc.2017.06.017.

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Ophthalmologic Features of Progeria

Iason S Mantagos, Monica E Kleinman, Mark W Kieran, Leslie B Gordon. Am J Ophthalmol. 2017 Oct; 182:126-132. doi: 10.1016/j.ajo.2017.07.020. Epub 2017 Jul 27.

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Protein sequestration at the nuclear periphery as a potential regulatory mechanism in premature aging

Leonid Serebryannyy, Tom Misteli. J Cell Biol. 2018 Jan 2;217(1):21-37. doi: 10.1083/jcb.201706061. Epub 2017 Oct 19.

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SIRPA-Inhibited, Marrow-Derived Macrophages Engorge, Accumulate, and Differentiate in Antibody-Targeted Regression of Solid Tumors

Cory M Alvey, Kyle R Spinler, Jerome Irianto, Charlotte R Pfeifer, Brandon Hayes, Yuntao Xia, Sangkyun Cho, P C P Dave Dingal, Jake Hsu, Lucas Smith, Manu Tewari, Dennis E Discher. Curr Biol. 2017 Jul 24;27(14):2065-2077.e6. doi: 10.1016/j.cub.2017.06.005. Epub 2017 Jun 29.

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Chromatin and lamin A determine two different mechanical response regimes of the cell nucleus

Andrew D Stephens, Edward J Banigan, Stephen A Adam, Robert D Goldman, John F Marko.c

Mol Biol Cell. 2017 Jul 7;28(14):1984-1996. doi: 10.1091/mbc.E16-09-0653. Epub 2017 Jan 5.

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Chromatin histone modifications and rigidity affect nuclear morphology independent of lamins

Andrew D Stephens, Patrick Z Liu, Edward J Banigan, Luay M Almassalha, Vadim Backman, Stephen A Adam, Robert D Goldman, John F Marko. Mol Biol Cell. 2018 Jan 15;29(2):220-233. doi: 10.1091/mbc.E17-06-0410. Epub 2017 Nov 15.

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The molecular architecture of lamins in somatic cells

Yagmur Turgay, Matthias Eibauer, Anne E Goldman, Takeshi Shimi, Maayan Khayat, Kfir Ben-Harush, Anna Dubrovsky-Gaupp, K Tanuj Sapra, Robert D Goldman, Ohad Medalia. Nature. 2017 Mar 9;543(7644):261-264. doi: 10.1038/nature21382. Epub 2017 Mar 1.

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Nucleoplasmic lamins define growth-regulating functions of lamina-associated polypeptide 2α in progeria cells

Sandra Vidak, Konstantina Georgiou, Petra Fichtinger, Nana Naetar, Thomas Dechat, Roland Foisner. J Cell Sci. 2018 Feb 8;131(3): jcs208462. doi: 10.1242/jcs.208462.

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Progerin-Induced Replication Stress Facilitates Premature Senescence in Hutchinson-Gilford Progeria Syndrome

Keith Wheaton, Denise Campuzano, Weili Ma, Michal Sheinis, Brandon Ho, Grant W Brown, Samuel Benchimol. Mol Cell Biol. 2017 Jun 29;37(14):e00659-16. doi: 10.1128/MCB.00659-16. Print 2017 Jul 15.

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Metformin alleviates ageing cellular phenotypes in Hutchinson-Gilford progeria syndrome dermal fibroblasts

Seul-Ki Park, Ok Sarah Shin. Exp Dermatol. 2017 Oct;26(10):889-895.  doi: 10.1111/exd.13323. Epub 2017 May 3.

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Substrate stiffness-dependent regulation of the SRF-Mkl1 co-activator complex requires the inner nuclear membrane protein Emerin

Margaret K Willer, Christopher W Carroll. J Cell Sci. 2017 Jul 1;130(13):2111-2118. doi: 10.1242/jcs.197517. Epub 2017 Jun 2

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2016: PRF Program-Related Publications
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome

Daniel Z Bar, Martin F Arlt, Joan F Brazier, Wendy E Norris, Susan E Campbell, Peter Chines, Delphine Larrieu, Stephen P Jackson, Francis S Collins, Thomas W Glover, Leslie B Gordon. J Med Genet. 2017 Mar;54(3):212-216. doi: 10.1136/jmedgenet-2016-104295. Epub 2016 Dec 5.

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Simple Separation of Functionally Distinct Populations of Lamin-Binding Proteins

Jason M Berk, Katherine L Wilson. Methods Enzymol. 2016;569:101-14. doi: 10.1016/bs.mie.2015.09.034. Epub 2015 Oct 27.

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Seeking a Cure for One of the Rarest Diseases: Progeria

Francis S Collins. Circulation. 2016 Jul 12;134(2):126-9. doi:10.1161/CIRCULATIONAHA.116.022965.

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A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder

Yuexia Wang, Uta Lichter-Konecki, Kwame Anyane-Yeboa, Jessica E Shaw, Jonathan T Lu, Cecilia Östlund, Ji-Yeon Shin, Lorraine N Clark, Gregg G Gundersen, Peter L Nagy, Howard J Worman. J Cell Sci. 2016 May 15;129(10):1975-80. doi: 10.1242/jcs.187302. Epub 2016 Mar 31.

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Progerin impairs chromosome maintenance by depleting CENP-F from metaphase kinetochores in Hutchinson-Gilford progeria fibroblasts

Veronika Eisch, Xiang Lu, Diana Gabriel, Karima Djaabali. Oncotarget. 2016 Apr 26;7(17):24700-18.
doi: 10.18632/oncotarget.8267.

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Temsirolimus Partially Rescues the Hutchinson-Gilford Progeria Cellular Phenotype

Diana Gabriel, Leslie B Gordon, Karima Djabali. PLoS One. 2016 Dec 29;11(12): e0168988.
doi: 10.1371/journal.pone.0168988. eCollection 2016.

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Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome

Leslie B Gordon, Monica E Kleinman, Joe Massaro, Ralph B D’Agostino Sr, Heather Shappell, Marie Gerhard-Herman, Leslie B Smoot, Catherine M Gordon, Robert H Cleveland, Ara Nazarian, Brian D Snyder, Nicole J Ullrich, V Michelle Silvera, Marilyn G Liang, Nicolle Quinn, David T Miller, Susanna Y Huh, Anne A Dowton, Kelly Littlefield, Maya M Greer, Mark W Kieran. Circulation. 2016 Jul 12;134(2):114-25.
doi: 10.1161/CIRCULATIONAHA.116.022188.

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Vitamin D receptor signaling improves Hutchinson-Gilford progeria syndrome cellular phenotypes

Ray Kreienkamp, Monica Croke, Martin A Neumann, Gonzalo Bedia-Diaz, Simona Graziano, Adriana Dusso, Dale Dorsett, Carsten Carlberg, Susan Gonzalo. Oncotarget. 2016 May 24;7(21):30018-31. doi: 10.18632/oncotarget.9065.

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NANOG Reverses the Myogenic Differentiation Potential of Senescent Stem Cells by Restoring ACTIN Filamentous Organization and SRF-Dependent Gene Expression

Panagiotis Mistriotis, Vivek K Bajpai, Xiaoyan Wang, Na Rong, Aref Shahini, Mohammadnabi Asmani, Mao-Shih Liang, Jianmin Wang, Pedro Lei, Song Liu, Ruogang Zhao, Stelios T Andreadis. Stem Cells. 2017 Jan;35(1):207-221. doi: 10.1002/stem.2452. Epub 2016 Jul 11.

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Loss of H3K9me3 Correlates with ATM Activation and Histone H2AX Phosphorylation Deficiencies in Hutchinson-Gilford Progeria Syndrome

Haoyue Zhang, Linlin Sun, Kun Wang, Di Wu, Mason Trappio, Celeste Witting, Kan Cao. PLoS One. 2016 Dec 1;11(12):e0167454. doi: 10.1371/journal.pone.0167454. eCollection 2016.

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Repression of the Antioxidant NRF2 Pathway in Premature Aging

Nard Kubben, Weigi Zhang, Lixia Wang, Ty C Voss, Jiping Yang, Jing Qu, Guang-Hui Liu, Tom Misteli.
Cell. 2016 Jun 2;165(6):1361-1374.  doi: 10.1016/j.cell.2016.05.017.

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Interruption of progerin-lamin A/C binding ameliorates Hutchinson-Gilford progeria syndrome phenotype

Su-Jin Lee, Youn-Sang Jung, Min-Ho Yoon, So-Mi Kang, Ah-Young Oh, Jee-Hyun Lee, So-Young Jun, Tae-Gyun Woo, Ho-Young Chun, Sang Kyum Kim, Kyu Jin Chung, Ho-Young Lee, Kyeong Lee, Guanghai Jin, Min-Kyun Na, Nam Chul Ha, Clea Bárcena, José M P Freije, Carlos López-Otín, Gyu Yong Song, Bum-Joon Park.
J Clin Invest. 2016 Oct 3;126(10):3879-3893. doi: 10.1172/JCI84164. Epub 2016 Sep 12.

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Permanent farnesylation of lamin A mutants linked to progeria impairs its phosphorylation at serine 22 during interphase

Olga Moiseeva, Stéphane Lopes-Paciencia, Geneviève Huot, Frédéric Lessard, Gerardo Ferbeyre. Aging (Albany NY). 2016 Feb;8(2):366-81. doi: 10.18632/aging.100903.

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Comparing lamin proteins post-translational relative stability using a 2A peptide-based system reveals elevated resistance of progerin to cellular degradation

Di Wu, Phillip A Yates, Haoyue Zhang, Kan Cao. Nucleus. 2016 Nov;7(6):585-596.
doi: 10.1080/19491034.2016.1260803.

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Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations

José Rivera-Torres, Conrado J Calvo, Anna Llach, Gabriela Guzmán-Martínez, Ricardo Caballero, Cristina González-Gómez, Luis J Jiménez-Borreguero, Juan A Guadix, Fernando G Osorio, Carlos López-Otín, Adela Herraiz-Martínez, Nuria Cabello, Alex Vallmitjana, Raul Benítez, Leslie B Gordon, José Jalife, José M Pérez-Pomares, Juan Tamargo, Eva Delpón, Leif Hove-Madsen, David Filgueiras-Rama, Vicente Andrés.
Proc Natl Acad Sci U S A. 2016 Nov 15;113(46):E7250-E7259. doi: 10.1073/pnas.1603754113. Epub 2016 Oct 31.

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Molecular insights into the premature aging disease progeria

Sandra Vidak, Roland Foisner. Histochem Cell Biol. 2016 Apr;145(4):401-17. doi: 10.1007/s00418-016-1411-1. Epub 2016 Feb 4.

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2015: PRF Program-Related Publications
Insights into the role of immunosenescence during varicella zoster virus infection (shingles) in the aging cell model

Ji-Ae Kim, Seul-Ki Park, Mukesh Kumar, Chan-Hee Lee, Ok Sarah Shin. Oncotarget. 2015 Nov 3;6(34):35324-43.
doi: 10.18632/oncotarget.6117.

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ADAMTS7 in cardiovascular disease: from bedside to bench and back again?

Alicia G Arroyo, Vicente Andrés. Circulation. 2015 Mar 31;131(13):1156-9.
doi: 10.1161/CIRCULATIONAHA.115.015711. Epub 2015 Feb 20.

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Progerin reduces LAP2α-telomere association in Hutchinson-Gilford progeria

Alexandre Chojnowski, Peh Fern Ong, Esther S M Wong, John S Y Lim, Rafidah A Mutalif, Raju Navasankari, Bamaprasad Dutta, Henry Yang, Yi Y Liow, Siu K Sze, Thomas Boudier, Graham D Wright, Alan Colman, Brian Burke, Colin L Stewart, Oliver Dreesen. Elife. 2015 Aug 27;4: e07759. doi: 10.7554/eLife.07759.

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Autophagy mediates degradation of nuclear lamina

Zhixun Dou, Caiyue Xu, Greg Donahue, Takeshi Shimi, Ji-An Pan, Jiajun Zhu, Andrejs Ivanov, Brian C Capell, Adam M Drake, Parisha P Shah, Joseph M Catanzaro, M Daniel Ricketts, Trond Lamark, Stephen A Adam, Ronen Marmorstein, Wei-Xing Zong, Terje Johansen, Robert D Goldman, Peter D Adams, Shelley L Berger. Nature. 2015 Nov 5;527(7576):105-9. doi: 10.1038/nature15548. Epub 2015 Oct 28.

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The tail domain of lamin B1 is more strongly modulated by divalent cations than lamin A

Sairaam Ganesh, Zhao Qin, Stephen T Spagnol, Matthew T Biegler, Kelli A Coffey, Agnieszka Kalinowski, Markus J Buehler, Kris Noel Dahl. Nucleus. 2015;6(3):203-11. doi: 10.1080/19491034.2015.1031436. Epub 2015 Mar 25.

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A high-content imaging-based screening pipeline for the systematic identification of anti-progeroid compounds

Nard Kubben, Kyle R Brimacombe, Megan Donegan, Zhuyin Li, Tom Misteli. Methods. 2016 Mar 1;96:46-58. doi: 10.1016/j.ymeth.2015.08.024. Epub 2015 Sep 1.

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Mutant lamin A links prophase to a p53 independent senescence program

Olga Moiseeva, Frédéric Lessard, Mariana Acevedo-Aquino, Mathieu Vernier, Youla S Tsantrizos, Gerardo Ferbeyre. Cell Cycle. 2015 Aug 3;14(15):2408-21. doi: 10.1080/15384101.2015.1053671. Epub 2015 Jun 1.

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Lamin A Is an Endogenous SIRT6 Activator and Promotes SIRT6-Mediated DNA Repair

Shrestha Ghosh, Baohua Liu, Yi Wang, Quan Hao, Zhongjun Zhou Cell Rep. 2015 Nov 17;13(7):1396-1406.
doi: 10.1016/j.celrep.2015.10.006. Epub 2015 Nov 5.

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Lamins at the crossroads of mechanosignaling

Selma Osmanagic-Myers, Thomas Dechat, Roland Foisner. Genes Dev. 2015 Feb 1;29(3):225-37.
doi: 10.1101/gad.255968.114.

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Gene-rich chromosomal regions are preferentially localized in the lamin B deficient nuclear blebs of atypical progeria cells

Katrin Bercht Pfleghaar, Pekka Taimen, Veronika Butin-Israeli, Takeshi Shimi, Sabine Langer-Freitag, Yolanda Markaki, Anne E Goldman, Manfred Wehnert, Robert D Goldman. Nucleus. 2015;6(1):66-76. doi: 10.1080/19491034.2015.1004256.

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Structural organization of nuclear lamins A, C, B1, and B2 revealed by superresolution microscopy

Takeshi Shimi, Mark Kittisopikul, Joseph Tran, Anne E Goldman, Stephen A Adam, Yixian Zheng, Khuloud Jaqaman, Robert D Goldman. Mol Biol Cell. 2015 Nov 5;26(22):4075-86. doi: 10.1091/mbc.E15-07-0461. Epub 2015 Aug 26.

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Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas resveratrol treatment does not show overall beneficial effects

Charlotte Strandgren, Hasina Abdul Nasser, Tomás Mckenna, Antti Koskela, Juha Tuukkanen, Claes Ohlsson, Björn Rozell, Maria Eriksson. FASEB J. 2015 Aug;29(8):3193-205. doi: 10.1096/fj.14-269217. Epub 2015 Apr 15.

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Nuclear stiffening and chromatin softening with progerin expression leads to an attenuated nuclear response to force

Elizabeth A Booth, Stephen T Spagnol, Turi A Alcoser, Kris Noel Dahl. Soft Matter. 2015 Aug 28;11(32):6412-8.
doi: 10.1039/c5sm00521c. Epub 2015 Jul 14.

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Hutchinson-Gilford progeria syndrome

Nicole J Ullrich, Leslie B Gordon Handb Clin Neurol. 2015;132:249-64. doi: 10.1016/B978-0-444-62702-5.00018-4.

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Methylene blue alleviates nuclear and mitochondrial abnormalities in progeria

Zheng-Mei Xiong, Ji Young Choi, Kun Wang, Haoyue Zhang, Zeshan Tariq, Di Wu, Eunae Ko, Christina LaDana, Hiromi Sesaki, Kan Cao. Aging Cell. 2016 Apr;15(2):279-90. doi: 10.1111/acel.12434. Epub 2015 Dec 14.

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Proliferation of progeria cells is enhanced by lamina-associated polypeptide 2α (LAP2α) through expression of extracellular matrix proteins

Sandra Vidak, Nard Kubben, Thomas Dechat, Roland Foisner. Genes Dev. 2015 Oct 1;29(19):2022-36. doi: 10.1101/gad.263939.115.

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2014: PRF Program-Related Publications
Expression of progerin in aging mouse brains reveals structural nuclear abnormalities without detectible significant alterations in gene expression, hippocampal stem cells or behavior

Jean-Ha BaekEva SchmidtNikenza ViceconteCharlotte StrandgrenKarin PernoldThibaud J C Richard 3Fred W Van LeeuwenNico P DantumaPeter DambergKjell HultenbyBrun UlfhakeEnrico MugnainiBjörn RozellMaria Eriksson. Hum Mol Genet2015 Mar 1;24(5):1305-21. doi: 10.1093/hmg/ddu541. Epub 2014 Oct 24.

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The non-random repositioning of whole chromosomes and individual gene loci in interphase nuclei and its relevance in disease, infection, aging, and cancer

Joanna M BridgerHalime D Arican-GotkasHelen A FosterLauren S GodwinAmanda HarveyIan R KillMatty KnightIshita S MehtaMai Hassan Ahmed. Adv Exp Med Biol2014;773:263-79. doi: 10.1007/978-1-4899-8032-8_12.

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Impact of farnesylation inhibitors on survival in Hutchinson-Gilford progeria syndrome

Leslie B GordonJoe MassaroRalph B D’Agostino SrSusan E CampbellJoan BrazierW Ted BrownMonica E KleinmanMark W KieranProgeria Clinical Trials Collaborative. Circulation2014 Jul 1;130(1):27-34.
doi: 10.1161/CIRCULATIONAHA.113.008285. Epub 2014 May 2.

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Role of lamin b1 in chromatin instability

Veronika Butin-IsraeliStephen A AdamNikhil JainGabriel L OtteDaniel NeemsLisa WiesmüllerShelly L BergerRobert D Goldman. Mol Cell Biol. 2015 Mar;35(5):884-98.  doi: 10.1128/MCB.01145-14. Epub 2014 Dec 22.

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Systematic identification of pathological lamin A interactors

Travis A DittmerNidhi SahniNard KubbenDavid E HillMarc VidalRebecca C BurgessVassilis RoukosTom Misteli. Mol Biol Cell. 2014 May;25(9):1493-510. doi: 10.1091/mbc.E14-02-0733. Epub 2014 Mar 12.

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Sulforaphane enhances progerin clearance in Hutchinson-Gilford progeria fibroblasts

Diana GabrielDaniela RoedlLeslie B GordonKarima Djabali. Aging Cell2015 Feb;14(1):78-91. doi: 10.1111/acel.12300. Epub 2014 Dec 16.

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Sorting nexin 6 enhances lamin a synthesis and incorporation into the nuclear envelope

Jose M González-GranadoAna Navarro-PuchePedro Molina-SanchezMarta Blanco-BerrocalRosa VianaJaime Font de MoraVicente Andrés. PLoS One2014 Dec 23;9(12):e115571. doi: 10.1371/journal.pone.0115571. eCollection 2014.

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Nuclear envelope lamin-A couples actin dynamics with immunological synapse architecture and T cell activation

José María González-GranadoCarlos Silvestre-RoigVera Rocha-PeruginiLaia Trigueros-MotosDanay CibriánGiulia Morlino, Marta Blanco-BerrocalFernando Garcia OsorioJosé María Pérez FreijeCarlos López-OtínFrancisco Sánchez-MadridVicente Andrés. Sci Signal2014 Apr 22;7(322):ra37. doi: 10.1126/scisignal.2004872.

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Interfacial binding and aggregation of lamin A tail domains associated with Hutchinson-Gilford progeria syndrome

Agnieszka KalinowskiPeter N YaronZhao QinSiddharth ShenoyMarkus J BuehlerMathias LöscheKris Noel Dahl. Biophys Chem2014 Dec;195:43-8. Doi: 10.1016/j.bpc.2014.08.005. Epub 2014 Aug 23.

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Interphase phosphorylation of lamin A

Vitaly KochinTakeshi ShimiElin TorvaldsonStephen A AdamAnne GoldmanChan-Gi PackJohanna Melo-CardenasSusumu Y ImanishiRobert D GoldmanJohn E Eriksson. J Cell Sci2014 Jun 15;127(Pt 12):2683-96. doi: 10.1242/jcs.141820. Epub 2014 Apr 16.

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Mouse models and aging: longevity and progeria

Chen-Yu LiaoBrian K Kennedy. Curr Top Dev Biol2014;109:249-85. doi: 10.1016/B978-0-12-397920-9.00003-2.

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Atherosclerosis in ancient humans, accelerated aging syndromes and normal aging: is lamin a protein a common link?

Michael I MiyamotoKarima DjabaliLeslie B Gordon. Glob Heart2014 Jun;9(2):211-8. doi: 10.1016/j.gheart.2014.04.001

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Mechanisms controlling the smooth muscle cell death in progeria via down-regulation of poly(ADP-ribose) polymerase 1

Haoyue ZhangZheng-Mei XiongKan Cao. Proc Natl Acad Sci U S A2014 Jun 3;111(22):E2261-70.
doi: 10.1073/pnas.1320843111. Epub 2014 May 19.

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Initial cutaneous manifestations of Hutchinson-Gilford progeria syndrome

Jillian F RorkJennifer T HuangLeslie B GordonMonica KleinmanMark W KieranMarilyn G Liang. Pediatr DermatolMar-Apr 2014;31(2):196-202. doi: 10.1111/pde.12284. Epub 2014 Jan 24.

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2013: PRF Program-Related Publications
Progeria: a paradigm for translational medicine

Leslie B GordonFrank G RothmanCarlos López-OtínTom Misteli. Cell. 2014 Jan 30;156(3):400-7. doi: 10.1016/j.cell.2013.12.028.

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Higher-order unfolding of satellite heterochromatin is a consistent and early event in cell senescence

Eric C SwansonBenjamin ManningHong ZhangJeanne B Lawrence. J Cell Biol2013 Dec 23;203(6):929-42.
doi: 10.1083/jcb.201306073.

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An inhibitory role of progerin in the gene induction network of adipocyte differentiation from iPS cells

Zheng-Mei XiongChristina LaDanaDi WuKan Cao. Aging (Albany NY)2013 Apr;5(4):288-303.
doi: 10.18632/aging.100550.

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Moving from gene discovery to Clinical Trials in Hutchinson-Gilford progeria syndrome

Allison A KingGeoffrey L Heyer. Neurology2013 Jul 30;81(5):408-9.  doi: 10.1212/WNL.0b013e31829d87cd. Epub 2013 Jun 28.

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Depleting the methyltransferase Suv39h1 improves DNA repair and extends lifespan in a progeria mouse model

Baohua LiuZimei WangLe ZhangShrestha GhoshHuiling ZhengZhongjun Zhou. Nat Commun. 2013;4:1868.
doi: 10.1038/ncomms2885.

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Regulation of nucleotide excision repair by nuclear lamin b1

Veronika Butin-IsraeliStephen A AdamRobert D Goldman. PLoS One2013 Jul 24;8(7):e69169. doi: 10.1371/journal.pone.0069169. Print 2013.

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Broken nuclei–lamins, nuclear mechanics, and disease

Patricia M DavidsonJan Lammerding. Trends Cell Biol2014 Apr;24(4):247-56. doi: 10.1016/j.tcb.2013.11.004. Epub 2013 Dec 2.

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Mechanical model of blebbing in nuclear lamin meshworks

Chloe M FunkhouserRastko SknepnekTakeshi ShimiAnne E GoldmanRobert D GoldmanMonica Olvera de la Cruz. Proc Natl Acad Sci U S A2013 Feb 26;110(9):3248-53. doi: 10.1073/pnas.1300215110. Epub 2013 Feb 11.

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Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics

Chin Yee HoDiana E JaaloukMaria K VartiainenJan Lammerding. Nature2013 May 23;497(7450):507-11. doi: 10.1038/nature12105. Epub 2013 May 5.

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Nuclear mechanics and mechanotransduction in health and disease

Philipp IsermannJan Lammerding. Curr Biol2013 Dec 16;23(24):R1113-21. doi: 10.1016/j.cub.2013.11.009.

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Calcium causes a conformational change in lamin A tail domain that promotes farnesyl-mediated membrane association

Agnieszka KalinowskiZhao QinKelli CoffeyRavi KodaliMarkus J BuehlerMathias LöscheKris Noel Dahl.

Biophys J2013 May 21;104(10):2246-53. doi: 10.1016/j.bpj.2013.04.016.

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Identification of mitochondrial dysfunction in Hutchinson-Gilford progeria syndrome through use of stable isotope labeling with amino acids in cell culture

José Rivera-TorresRebeca Acín-PerezPablo Cabezas-SánchezFernando G OsorioCristina Gonzalez-GómezDiego MegiasCarmen CámaraCarlos López-OtínJosé Antonio EnríquezJosé L Luque-GarcíaVicente Andrés. J Proteomics2013 Oct 8;91:466-77. doi: 10.1016/j.jprot.2013.08.008. Epub 2013 Aug 20.

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Correlated alterations in genome organization, histone methylation, and DNA-lamin A/C interactions in Hutchinson-Gilford progeria syndrome

Rachel Patton McCordAshley Nazario-TooleHaoyue ZhangPeter S ChinesYe ZhanMichael R ErdosFrancis S CollinsJob DekkerKan Cao. Genome Res. 2013 Feb;23(2):260-9.doi: 10.1101/gr.138032.112. Epub 2012 Nov 14.

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Imaging characteristics of cerebrovascular arteriopathy and stroke in Hutchinson-Gilford progeria syndrome

V M SilveraL B GordonD B OrbachS E CampbellJ T MachanN J Ullrich. AJNR Am J Neuroradiol2013 May;34(5):1091-7. doi: 10.3174/ajnr.A3341. Epub 2012 Nov 22.

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Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment

Nicole J UllrichMark W KieranDavid T MillerLeslie B GordonYoon-Jae ChoV Michelle SilveraAnita Giobbie-HurderDonna NeubergMonica E Kleinman. Neurology2013 Jul 30;81(5):427-30. doi: 10.1212/WNL.0b013e31829d85c0. Epub 2013 Jun 28

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Defective extracellular pyrophosphate metabolism promotes vascular calcification in a mouse model of Hutchinson-Gilford progeria syndrome that is ameliorated on pyrophosphate treatment

Ricardo Villa-BellostaJosé Rivera-TorresFernando G OsorioRebeca Acín-PérezJosé A EnriquezCarlos López-OtínVicente Andrés. Circulation2013 Jun 18;127(24):2442-51.
doi: 10.1161/CIRCULATIONAHA.112.000571. Epub 2013 May 20.

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2012: PRF Program-Related Publications
A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome

Robert H Cleveland, Leslie B Gordon, Monica E Kleinman, David T Miller, Catherine M Gordon, Brian D Snyder, Ara Nazarian, Anita Giobbie-Hurder, Donna Neuberg, Mark W Kieran.  Pediatr Radiol. 2012 Sep;42(9):1089-98. doi: 10.1007/s00247-012-2423-1. Epub 2012 Jul 1.

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Automated image analysis of nuclear shape: what can we learn from a prematurely aged cell?

Meghan K Driscoll, Jason L Albanese, Zheng-Mei Xiong, Mitch Mailman, Wolfgang Losert, Kan Cao. Aging (Albany NY). 2012 Feb;4(2):119-32. doi: 10.18632/aging.100434.

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Mechanisms of premature vascular aging in children with Hutchinson-Gilford progeria syndrome

Marie Gerhard-Herman, Leslie B Smoot, Nicole Wake, Mark W Kieran, Monica E Kleinman, David T Miller, Armin Schwartzman, Anita Giobbie-Hurder, Donna Neuberg, Leslie B Gordon. Hypertension. 2012 Jan;59(1):92-7.
doi: 10.1161/HYPERTENSIONAHA.111.180919. Epub 2011 Nov 14.

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A proteomic study of Hutchinson-Gilford progeria syndrome: Application of 2D-chromotography in a premature aging disease

Li Wang, Wu Yang, Weina Ju, Peirong Wang, Xinliang Zhao, Edmund C Jenkins, W Ted Brown, Nanbert Zhong
Biochem Biophys Res Commun. 2012 Jan 27;417(4):1119-26. doi: 10.1016/j.bbrc.2011.12.056. Epub 2011 Dec 24.

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Naïve adult stem cells from patients with Hutchinson-Gilford progeria syndrome express low levels of progerin in vivo

Vera Wenzel, Daniela Roedl, Diana Gabriel, Leslie B Gordon, Meenhard Herlyn, Reinhard Schneider, Johannes Ring, Karima Djabali. Biol Open. 2012 Jun 15;1(6):516-26.  doi: 10.1242/bio.20121149. Epub 2012 Apr 16.

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Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome

Leslie B Gordon, Monica E Kleinman, David T Miller, Donna S Neuberg, Anita Giobbie-Hurder, Marie Gerhard-Herman, Leslie B Smoot, Catherine M Gordon, Robert Cleveland, Brian D Snyder, Brian Fligor, W Robert Bishop, Paul Statkevich, Amy Regen, Andrew Sonis, Susan Riley, Christine Ploski, Annette Correia, Nicolle Quinn, Nicole J Ullrich, Ara Nazarian, Marilyn G Liang, Susanna Y Huh, Armin Schwartzman, Mark W Kieran. Proc Natl Acad Sci U S A. 2012 Oct 9;109(41):16666-71. doi: 10.1073/pnas.1202529109. Epub 2012 Sep 24.

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Progeria: translational insights from cell biology

Leslie B Gordon, Kan Cao, Francis S Collins. J Cell Biol. 2012 Oct 1;199(1):9-13. doi: 10.1083/jcb.201207072.

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Resveratrol rescues SIRT1-dependent adult stem cell decline and alleviates progeroid features in laminopathy-based progeria

Baohua Liu, Shrestha Ghosh, Xi Yang, Huiling Zheng, Xinguang Liu, Zimei Wang, Guoxiang Jin, Bojian Zheng, Brian K Kennedy, Yousin Suh, Matt Kaeberlein, Karl Tryggvason, Zhongjun Zhou. Cell Metab. 2012 Dec 5;16(6):738-50. doi: 10.1016/j.cmet.2012.11.007. 

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Replication factor C1, the large subunit of replication factor C, is proteolytically truncated in Hutchinson-Gilford progeria syndrome

Hui Tang, Benjamin Hilton, Phillip R Musich, Ding Zhi Fang, Yue Zou. Aging Cell. 2012 Apr;11(2):363-5.
doi: 10.1111/j.1474-9726.2011.00779.x. Epub 2012 Jan 13.

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Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome

N J Ullrich, V M Silvera, S E Campbell, L B Gordon. AJNR Am J Neuroradiol. 2012 Sep;33(8):1512-8.
doi: 10.3174/ajnr.A3088. Epub 2012 Mar 29.

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2011: PRF Program-Related Publications
Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts

Kan Cao, Cecilia D Blair, Dina A Faddah, Julia E Kieckhaefer, Michelle Olive, Michael R Erdos, Elizabeth G Nabel, Francis S Collins. J Clin Invest. 2011 Jul;121(7):2833-44.  doi: 10.1172/JCI43578. Epub 2011 Jun 13.

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Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells

Kan Cao, John J Graziotto, Cecilia D Blair, Joseph R Mazzulli, Michael R Erdos, Dimitri Krainc, Francis S Collins. Sci Transl Med. 2011 Jun 29;3(89):89ra58.  doi: 10.1126/scitranslmed.3002346.

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Otologic and audiologic manifestations of Hutchinson-Gilford progeria syndrome

Elizabeth Guardiani, Christopher Zalewski, Carmen Brewer, Melissa Merideth, Wendy Introne, Ann C M Smith, Leslie Gordon, William Gahl, H Jeffrey Kim. Laryngoscope. 2011 Oct;121(10):2250-5.
doi: 10.1002/lary.22151. Epub 2011 Sep 6.

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Low and high expressing alleles of the LMNA gene: implications for laminopathy disease development

Sofía Rodríguez, Maria Eriksson. PLoS One. 2011;6(9):e25472. doi: 10.1371/journal.pone.0025472. Epub 2011 Sep 29.

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Accumulation of distinct prelamin A variants in human diploid fibroblasts differentially affects cell homeostasis

Jose Candelario, Stacey Borrego, Sita Reddy, Lucio Comai. Exp Cell Res. 2011 Feb 1;317(3):319-29.
doi: 10.1016/j.yexcr.2010.10.014. Epub 2010 Oct 23.

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CTP:phosphocholine cytidylyltransferase α (CCTα) and lamins alter nuclear membrane structure without affecting phosphatidylcholine synthesis

Karsten Gehrig, Neale D Ridgway. Biochim Biophys Acta. 2011 Jun;1811(6):377-85. doi: 10.1016/j.bbalip.2011.04.001. Epub 2011 Apr 9.

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Computational image analysis of nuclear morphology associated with various nuclear-specific aging disorders

Siwon Choi, Wei Wang, Alexandrew J S Ribeiro, Agnieszka Kalinowski, Siobhan Q Gregg, Patricia L Opresko, Laura J Niedernhofer, Gustavo K Rohde, Kris Noel Dahl. Nucleus. Nov-Dec 2011;2(6):570-9. doi: 10.4161/nucl.2.6.17798. Epub 2011 Nov 1.

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Hutchinson-Gilford progeria is a skeletal dysplasia

Catherine M Gordon, Leslie B Gordon, Brian D Snyder, Ara Nazarian, Nicolle Quinn, Susanna Huh, Anita Giobbie-Hurder, Donna Neuberg, Robert Cleveland, Monica Kleinman, David T Miller, Mark W Kieran. J Bone Miner Res. 2011 Jul;26(7):1670-9. doi: 10.1002/jbmr.392. 

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Age-dependent loss of MMP-3 in Hutchinson-Gilford progeria syndrome

Ingrid A Harten, Rima S Zahr, Joan M Lemire, Jason T Machan, Marsha A Moses, Robert J Doiron, Adam S Curatolo, Frank G Rothman, Thomas N Wight, Bryan P Toole, Leslie B Gordon. J Gerontol A Biol Sci Med Sci. 2011 Nov;66(11):1201-7. doi: 10.1093/gerona/glr137. Epub 2011 Aug 17.

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The defective nuclear lamina in Hutchinson-gilford progeria syndrome disrupts the nucleocytoplasmic Ran gradient and inhibits nuclear localization of Ubc9

Joshua B Kelley, Sutirtha Datta, Chelsi J Snow, Mandovi Chatterjee, Li Ni, Adam Spencer, Chun-Song Yang, Caelin Cubeñas-Potts, Michael J Matunis, Bryce M Paschal. Mol Cell Biol. 2011 Aug;31(16):3378-95.
doi: 10.1128/MCB.05087-11. Epub 2011 Jun 13.

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Stem cell depletion in Hutchinson-Gilford progeria syndrome

Ylva Rosengardten, Tomás McKenna, Diana Grochová, Maria Eriksson. Aging Cell. 2011 Dec;10(6):1011-20.
doi: 10.1111/j.1474-9726.2011.00743.x. Epub 2011 Oct 11. 

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‘Relax and Repair’ to restrain aging

Vaidehi Krishnan, Baohua Liu, Zhongjun Zhou.  Aging (Albany NY). 2011 Oct;3(10):943-54.
doi: 10.18632/aging.100399.

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Histone H4 lysine 16 hypoacetylation is associated with defective DNA repair and premature senescence in Zmpste24-deficient mice

Vaidehi Krishnan, Maggie Zi Ying Chow, Zimei Wang, Le Zhang, Baohua Liu, Xinguang Liu, Zhongjun Zhou.
Proc Natl Acad Sci U S A. 2011 Jul 26;108(30):12325-30. doi: 10.1073/pnas.1102789108. Epub 2011 Jul 11.

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DNA-damage accumulation and replicative arrest in Hutchinson-Gilford progeria syndrome

Phillip R Musich, Yue Zou. Biochem Soc Trans. 2011 Dec;39(6):1764-9.  doi: 10.1042/BST20110687.

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Comparison of constitutional and replication stress-induced genome structural variation by SNP array and mate-pair sequencing

Martin F Arlt, Alev Cagla Ozdemir, Shanda R Birkeland, Robert H Lyons Jr, Thomas W Glover, Thomas E Wilson. Genetics. 2011 Mar;187(3):675-83. doi: 10.1534/genetics.110.124776. Epub 2011 Jan 6.

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Structure and stability of the lamin A tail domain and HGPS mutant

Zhao Qin, Agnieszka Kalinowski, Kris Noel Dahl, Markus J Buehler. J Struct Biol. 2011 Sep;175(3):425-33. doi: 10.1016/j.jsb.2011.05.015. Epub 2011 May 24.

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Hydroxyurea induces de novo copy number variants in human cells

Martin F Arlt, Alev Cagla Ozdemir, Shanda R Birkeland, Thomas E Wilson, Thomas W Glover. Proc Natl Acad Sci U S A. 2011 Oct 18;108(42):17360-5.  doi: 10.1073/pnas.1109272108. Epub 2011 Oct 10.

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Protein farnesylation inhibitors cause donut-shaped cell nuclei attributable to a centrosome separation defect

Valerie L R M Verstraeten, Lana A Peckham, Michelle Olive, Brian C Capell, Francis S Collins, Elizabeth G Nabel, Stephen G Young, Loren G Fong, Jan Lammerding. Proc Natl Acad Sci U S A. 2011 Mar 22;108(12):4997-5002.  doi: 10.1073/pnas.1019532108. Epub 2011 Mar 7.

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2010: PRF Program-Related Publications
Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition

Jackleen Marji, Seán I O’Donoghue, Dayle McClintock, Venkata P Satagopam, Reinhard Schneider, Desiree Ratner, Howard J Worman, Leslie B Gordon, Karima Djabali. PLoS One. 2010 Jun 15;5(6):e11132.
doi: 10.1371/journal.pone.0011132.

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Mechanobiology and the microcirculation: cellular, nuclear and fluid mechanics

Kris Noel Dahl, Agnieszka Kalinowski, Kerem Pekkan. Microcirculation. 2010 Apr;17(3):179-91.
doi: 10.1111/j.1549-8719.2009.00016.x.

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Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascular pathology of aging

Michelle Olive, Ingrid Harten, Richard Mitchell, Jeanette K Beers, Karima Djabali, Kan Cao, Michael R Erdos, Cecilia Blair, Birgit Funke, Leslie Smoot, Marie Gerhard-Herman, Jason T Machan, Robert Kutys, Renu Virmani, Francis S Collins, Thomas N Wight, Elizabeth G Nabel, Leslie B Gordon. Arterioscler Thromb Vasc Biol. 2010 Nov;30(11):2301-9.  doi: 10.1161/ATVBAHA.110.209460. Epub 2010 Aug 26.

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2009: PRF Program-Related Publications
Association of progerin-interactive partner proteins with lamina proteins: Mel18 is associated with emerin in HGPS

Wei-na Ju, W Ted Brown, Nanbert Zhong. Beijing Da Xue Xue Bao Yi Xue Ban. 2009 Aug 18;41(4):397-401.

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Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson Gilford progeria patients

Gabriela Viteri, Youn Wook Chung, Earl R Stadtman. Mech Ageing Dev. 2010 Jan;131(1):2-8.
doi: 10.1016/j.mad.2009.11.006. Epub 2009 Dec 1.

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Association of progerin-interactive partner proteins with lamina proteins: Mel18 is associated with emerin in HGPS

Wei-na Ju, W Ted Brown, Nanbert Zhong. Beijing Da Xue Xue Bao Yi Xue Ban. 2009 Aug 18;41(4):397-401. 

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Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes

D L Domingo, M I Trujillo, S E Council, M A Merideth, L B Gordon, T Wu, W J Introne, W A Gahl, T C Hart. Oral Dis. 2009 Apr;15(3):187-95.  doi: 10.1111/j.1601-0825.2009.01521.x. Epub 2009 Feb 19.

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Ageing-related chromatin defects through loss of the NURD complex

Gianluca Pegoraro, Nard Kubben, Ute Wickert, Heike Göhler, Katrin Hoffmann, Tom Misteli. Nat Cell Biol. 2009 Oct;11(10):1261-7. doi: 10.1038/ncb1971. Epub 2009 Sep 6.

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Altered nuclear functions in progeroid syndromes: a paradigm for aging research

Baomin Li, Sonali Jog, Jose Candelario, Sita Reddy, Lucio Comai. ScientificWorldJournal. 2009 Dec 16;9:1449-62. doi: 10.1100/tsw.2009.159.

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Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants

Martin F Arlt, Jennifer G Mulle, Valerie M Schaibley, Ryan L Ragland, Sandra G Durkin, Stephen T Warren, Thomas W Glover.
Am J Hum Genet. 2009 Mar;84(3):339-50. doi: 10.1016/j.ajhg.2009.01.024. Epub 2009 Feb 19.

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2008: PRF Program-Related Publications
Reversible phenotype in a mouse model of Hutchinson-Gilford progeria syndrome

H Sagelius, Y Rosengardten, E Schmidt, C Sonnabend, B Rozell, M Eriksson. J Med Genet. 2008 Dec;45(12):794-801. doi: 10.1136/jmg.2008.060772. Epub 2008 Aug 15.

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Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease

Hanna Sagelius, Ylva Rosengardten, Mubashir Hanif, Michael R Erdos, Björn Rozell, Francis S Collins, Maria Eriksson. J Cell Sci. 2008 Apr 1;121(Pt 7):969-78.  doi: 10.1242/jcs.022913. Epub 2008 Mar 11.

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Perturbation of wild-type lamin A metabolism results in a progeroid phenotype

Jose Candelario, Sivasubramaniam Sudhakar, Sonia Navarro, Sita Reddy, Lucio Comai.
Aging Cell. 2008 Jun;7(3):355-67. doi: 10.1111/j.1474-9726.2008.00393.x. Epub2008 Mar 24.

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Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A

Yiyong Liu, Youjie Wang, Antonio E Rusinol, Michael S Sinensky, Ji Liu, Steven M Shell, Yue Zou. FASEB J. 2008 Feb;22(2):603-11. doi: 10.1096/fj.07-8598com. Epub 2007 Sep 11.

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Towards an integrated understanding of the structure and mechanics of the cell nucleus

Amy C Rowat, Jan Lammerding, Harald Herrmann, Ueli Aebi. Bioessays. 2008 Mar;30(3):226-36. doi: 10.1002/bies.20720.

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Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing

Paola Scaffidi, Tom Misteli. Nat Cell Biol. 2008 Apr;10(4):452-9. doi: 10.1038/ncb1708. Epub 2008 Mar 2.

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Phenotype and course of Hutchinson-Gilford progeria syndrome

Melissa A Merideth, Leslie B Gordon, Sarah Clauss, Vandana Sachdev, Ann C M Smith, Monique B Perry, Carmen C Brewer, Christopher Zalewski, H Jeffrey Kim, Beth Solomon, Brian P Brooks, Lynn H Gerber, Maria L Turner, Demetrio L Domingo, Thomas C Hart, Jennifer Graf, James C Reynolds, Andrea Gropman, Jack A Yanovski, Marie Gerhard-Herman, Francis S Collins, Elizabeth G Nabel, Richard O Cannon 3rd, William A Gah, Wendy J Introne. N Engl J Med. 2008 Feb 7;358(6):592-604. doi: 10.1056/NEJMoa0706898.

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Increased mechanosensitivity and nuclear stiffness in Hutchinson-Gilford progeria cells: effects of farnesyltransferase inhibitors

Valerie L R M Verstraeten, Julie Y Ji, Kiersten S Cummings, Richard T Lee, Jan Lammerding.  Aging Cell. 2008 Jun;7(3):383-93. doi: 10.1111/j.1474-9726.2008.00382.x. Epub 2008 Mar 10.

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Eliminating the synthesis of mature lamin A reduces disease phenotypes in mice carrying a Hutchinson-Gilford progeria syndrome allele

Shao H Yang, Xin Qiao, Emily Farber, Sandy Y Chang, Loren G Fong, Stephen G Young. J Biol Chem. 2008 Mar 14;283(11):7094-9. doi: 10.1074/jbc.M708138200. Epub 2008 Jan 4.

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Treatment with a farnesyltransferase inhibitor improves survival in mice with a Hutchinson-Gilford progeria syndrome mutation

Shao H Yang, Xin Qiao, Loren G Fong, Stephen G Young. Biochim Biophys Acta. Jan-Feb 2008;1781(1-2):36-9. doi: 10.1016/j.bbalip.2007.11.003. Epub 2007 Nov 26.

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Highlights of the 2007 Progeria Research Foundation scientific workshop: progress in translational science

Leslie B Gordon, Christine J Harling-Berg, Frank G Rothman. J Gerontol A Biol Sci Med Sci. 2008 Aug;63(8):777-87. doi: 10.1093/gerona/63.8.777.

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2007: PRF Program-Related Publications
Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development

Leslie B Gordon, Kathleen M McCarten, Anita Giobbie-Hurder, Jason T Machan, Susan E Campbell, Scott D Berns, Mark W Kieran. Pediatrics. 2007 Oct;120(4):824-33. doi: 10.1542/peds.2007-1357.

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A lamin A protein isoform overexpressed in Hutchinson-Gilford progeria syndrome interferes with mitosis in progeria and normal cells

Kan Cao, Brian C Capell, Michael R Erdos, Karima Djabali, Francis S Collins. Proc Natl Acad Sci U S A. 2007 Mar 20;104(12):4949-54.  doi: 10.1073/pnas.0611640104. Epub 2007 Mar 14.

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New approaches to progeria

Mark W Kieran, Leslie Gordon, Monica Kleinman. Pediatrics. 2007 Oct;120(4):834-41.  doi: 10.1542/peds.2007-1356.

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Cell nuclei spin in the absence of lamin b1

Julie Y Ji, Richard T Lee, Laurent Vergnes, Loren G Fong, Colin L Stewart, Karen Reue, Stephen G Young, Qiuping Zhang, Catherine M Shanahan, Jan Lammerding. J Biol Chem . 2007 Jul 6;282(27):20015-26. doi: 10.1074/jbc.M611094200. Epub 2007 May 8.

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The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin

Dayle McClintock, Desiree Ratner, Meepa Lokuge, David M Owens, Leslie B Gordon, Francis S Collins, Karima Djabali. PLoS One. 2007 Dec 5;2(12):e1269. doi: 10.1371/journal.pone.0001269.

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Alterations in mitosis and cell cycle progression caused by a mutant lamin A known to accelerate human aging

Thomas Dechat, Takeshi Shimi, Stephen A Adam, Antonio E Rusinol, Douglas A Andres, H Peter Spielmann, Michael S Sinensky, Robert D Goldman. Proc Natl Acad Sci U S A. 2007 Mar 20;104(12):4955-60.
doi: 10.1073/pnas.0700854104. Epub 2007 Mar 14.

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Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes

Casey L Moulson, Loren G Fong, Jennifer M Gardner, Emily A Farber, Gloriosa Go, Annalisa Passariello, Dorothy K Grange, Stephen G Young, Jeffrey H Miner. Hum Mutat. 2007 Sep;28(9):882-9. doi: 10.1002/humu.20536.

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2006: PRF Program-Related Publications
Prelamin A and lamin A appear to be dispensable in the nuclear lamina

Loren G Fong, Jennifer K Ng, Jan Lammerding, Timothy A Vickers, Margarita Meta, Nathan Coté, Bryant Gavino, Xin Qiao, Sandy Y Chang, Stephanie R Young, Shao H Yang, Colin L Stewart, Richard T Lee, C Frank Bennet, Martin O Bergo, Stephen G Young. J Clin Invest. 2006 Mar;116(3):743-52. doi: 10.1172/JCI27125.

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Nuclear lamins, diseases and aging

Anna Mattout, Thomas Dechat, Stephen A Adam, Robert D Goldman, Yosef Gruenbaum. Curr Opin Cell Biol. 2006 Jun;18(3):335-41. Doi: 10.1016/j.ceb.2006.03.007. Epub 2006 Apr 24

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Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody

Dayle McClintock, Leslie B Gordon, Karima Djabali. Proc Natl Acad Sci U S A. 2006 Feb 14;103(7):2154-9. doi: 10.1073/pnas.0511133103. Epub 2006 Feb 6.

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Aggrecan expression is substantially and abnormally upregulated in Hutchinson-Gilford Progeria Syndrome dermal fibroblasts

Joan M Lemire, Carrie Patis, Leslie B Gordon, John D Sandy, Bryan P Toole, Anthony S Weiss. Mech Ageing Dev. 2006 Aug;127(8):660-9. doi: 10.1016/j.mad.2006.03.004. Epub 2006 May 2.

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Protein farnesyltransferase inhibitors and progeria

Margarita Meta, Shao H Yang, Martin O Bergo, Loren G Fong, Stephen G Young. Trends Mol Med. 2006 Oct;12(10):480-7. doi: 10.1016/j.molmed.2006.08.006. Epub 2006 Aug 30.

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Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging

Dale K Shumaker, Thomas Dechat, Alexander Kohlmaier, Stephen A Adam, Matthew R Bozovsky, Michael R Erdos, Maria Eriksson, Anne E Goldman, Satya Khuon, Francis S Collins, Thomas Jenuwein, Robert D Goldman.

Proc Natl Acad Sci U S A. 2006 Jun 6;103(23):8703-8. doi: 10.1073/pnas.0602569103. Epub 2006 May 31.

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Prelamin A processing and heterochromatin dynamics in laminopathies

Nadir M Maraldi, Elisabetta Mattioli, Giovanna Lattanzi, Marta Columbaro, Cristina Capanni, Daria Camozzi, Stefano Squarzoni, Francesco A Manzoli. Adv Enzyme Regu. 2007;47:154-67.
doi: 10.1016/j.advenzreg.2006.12.016. Epub 2006 Dec 23.

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Prelamin A farnesylation and progeroid syndromes

Stephen G Young, Margarita Meta, Shao H Yang, Loren G Fong. J Biol Chem. 2006 Dec 29;281(52):39741-5. doi: 10.1074/jbc.R600033200. Epub 2006 Nov 7.

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2005: PRF Program-Related Publications
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition

Michael W Glynn, Thomas W Glover.  Hum Mol Genet. 2005 Oct 15;14(20):2959-69. doi: 10.1093/hmg/ddi326. Epub 2005 Aug 26.

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Reduced adiponectin and HDL cholesterol without elevated C-reactive protein: clues to the biology of premature atherosclerosis in Hutchinson-Gilford Progeria Syndrome

Leslie B Gordon, Ingrid A Harten, Mary Elizabeth Patti, Alice H Lichtenstein. J Pediatr . 2005 Mar;146(3):336-41. doi: 10.1016/j.jpeds.2004.10.064.

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Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment

M Columbaro, C Capanni, E Mattioli, G Novelli, V K Parnaik, S Squarzoni, N M Maraldi, G Lattanzi. Cell Mol Life Sci. 2005 Nov;62(22):2669-78.  doi: 10.1007/s00018-005-5318-6.

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Genomic instability in laminopathy-based premature aging

Baohua Liu, Jianming Wang, Kui Ming Chan, Wai Mui Tjia, Wen Deng, Xinyuan Guan, Jian-dong Huang, Kai Man Li, Pui Yin Chau, David J Chen, Duanqing Pei, Alberto M Pendas, Juan Cadiñanos, Carlos López-Otín, Hung Fat Tse, Chris Hutchison, Junjie Chen, Yihai Cao, Kathryn S E Cheah, Karl Tryggvason, Zhongjun Zhou. Nat Med. 2005 Jul;11(7):780-5.  doi: 10.1038/nm1266. Epub 2005 Jun 26.

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Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference

Shurong Huang, Lishan Chen, Nataliya Libina, Joel Janes, George M Martin, Judith Campisi, Junko Oshima.
Hum Genet. 2005 Dec;118(3-4):444-50. doi: 10.1007/s00439-005-0051-7. Epub 2005 Oct 6.

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Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome

Monica P Mallampalli, Gregory Huyer, Pravin Bendale, Michael H Gelb, Susan Michaelis. Proc Natl Acad Sci U S A. 2005 Oct 4;102(40):14416-21.  doi: 10.1073/pnas.0503712102. Epub 2005 Sep 26.

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Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress

Mauro Paradisi, Dayle McClintock, Revekka L Boguslavsky, Christina Pedicelli, Howard J Worman, Karima Djabali. BMC Cell Biol. 2005 Jun 27;6:27. doi: 10.1186/1471-2121-6-27.

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Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome

Brian C Capell, Michael R Erdos, James P Madigan, James J Fiordalisi, Renee Varga, Karen N Conneely, Leslie B Gordon, Channing J Der, Adrienne D Cox, Francis S Collins. Proc Natl Acad Sci U S A. 2005 Sep 6;102(36):12879-84.  doi: 10.1073/pnas.0506001102. Epub 2005 Aug 29.

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Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes

Julia I Toth, Shao H Yang, Xin Qiao, Anne P Beigneux, Michael H Gelb, Casey L Moulson, Jeffrey H Miner, Stephen G Young, Loren G Fong. Proc Natl Acad Sci U S A. 2005 Sep 6;102(36):12873-8.
doi: 10.1073/pnas.0505767102. Epub 2005 Aug 29. 

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Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation

Shao H Yang, Martin O Bergo, Julia I Toth, Xin Qiao, Yan Hu, Salemiz Sandoval, Margarita Meta, Pravin Bendale, Michael H Gelb, Stephen G Young, Loren G Fong. Proc Natl Acad Sci U S A. 2005 Jul 19;102(29):10291-6. doi: 10.1073/pnas.0504641102. Epub 2005 Jul 12.

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Prelamin A, Zmpste24, misshapen cell nuclei, and progeria–new evidence suggesting that protein farnesylation could be important for disease pathogenesis

Stephen G Young, Loren G Fong, Susan Michaelis. J Lipid Res. 2005 Dec;46(12):2531-58. doi: 10.1194/jlr.R500011-JLR200. Epub 2005 Oct 5. 

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Novel progerin-interactive partner proteins hnRNP E1, EGF, Mel 18, and UBC9 interact with lamin A/C

Nanbert Zhong, Gabriel Radu, Weina Ju, W Ted Brown. Biochem Biophys Res Commun. 2005 Dec 16;338(2):855-61.doi: 10.1016/j.bbrc.2005.10.020. Epub 2005 Oct 14.

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2004: PRF Program-Related Publications
Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis

Antonei B Csoka, Sangeeta B English, Carl P Simkevich, David G Ginzinger, Atul J Butte, Gerald P Schatten, Frank G Rothman, John M Sedivy. Aging Cell. 2004 Aug;3(4):235-43. doi: 10.1111/j.1474-9728.2004.00105.x.

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Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice

Loren G Fong, Jennifer K Ng, Margarita Meta, Nathan Coté, Shao H Yang, Colin L Stewart, Terry Sullivan, Andrew Burghardt, Sharmila Majumdar, Karen Reue, Martin O Bergo, Stephen G Young. Proc Natl Acad Sci U S A. 2004 Dec 28;101(52):18111-6. doi: 10.1073/pnas.0408558102. Epub 2004 Dec 17.

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Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome

Robert D Goldman, Dale K Shumaker, Michael R Erdos, Maria Eriksson, Anne E Goldman, Leslie B Gordon, Yosef Gruenbaum, Satya Khuon, Melissa Mendez, Renée Varga, Francis S Collins. Proc Natl Acad Sci U S A. 2004 Jun 15;101(24):8963-8. doi: 10.1073/pnas.0402943101. Epub 2004 Jun 7. 

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2003: PRF Program-Related Publications
Hyaluronan is not elevated in urine or serum in Hutchinson-Gilford Progeria Syndrome

Leslie B Gordon, Ingrid A Harten, Anthony Calabro, Geetha Sugumaran, Antonei B Csoka, W Ted Brown, Vincent Hascall, Bryan P Toole. Hum Genet. 2003 Jul;113(2):178-87. doi: 10.1007/s00439-003-0958-9. Epub 2003 May 1.

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LMNA mutations in atypical Werner’s syndrome

Lishan Chen, Lin Lee, Brian A Kudlow, Heloisa G Dos Santos, Olav Sletvold, Yousef Shafeghati, Eleanor G Botha, Abhimanyu Garg, Nancy B Hanson, George M Martin, I Saira Mian, Brian K Kennedy, Junko Oshima.
Lancet. 2003 Aug 9;362(9382):440-5. doi: 10.1016/S0140-6736(03)14069-X.

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Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

Maria Eriksson, W Ted Brown, Leslie B Gordon, Michael W Glynn, Joel Singer, Laura Scott, Michael R Erdos, Christiane M Robbins, Tracy Y Moses, Peter Berglund, Amalia Dutra, Evgenia Pak, Sandra Durkin, Antonei B Csoka, Michael Boehnke, Thomas W Glover, Francis S Collins. Nature. 2003 May 15;423(6937):293-8. doi: 10.1038/nature01629. Epub 2003 Apr 25.

This publication utilized the following Progeria Research Foundation programs:

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2002: PRF Program-Related Publications

Searching for clues to premature aging

Jouni Uitto. Trends Mol Med. 2002 Apr;8(4):155-7. doi: 10.1016/s1471-4914(02)02288-8.

This publication utilized the following Progeria Research Foundation programs:

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