| 1 | EMD, PRO1, SUN1, SUN2, SYNE1, SYNE2
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| Imbalanced nucleocytoskeletal connections create common polarity defects in progeria and physiological aging.
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| Chang W, Wang Y, Luxton GWG, Östlund C, Worman HJ, Gundersen GG.
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| Proc Natl Acad Sci U S A 116(9):3578-3583. doi: 10.1073/pnas.1809683116. Epub 2019 Feb 11.
2019
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| 2 | LMNA, PRO1, TMPO
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| Progerin reduces LAP2α-telomere association in Hutchinson-Gilford progeria.
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| Chojnowski A, Ong PF, Wong ES, Lim JS, Mutalif RA, Navasankari R, Dutta B, Yang H, Liow YY, Sze SK, Boudier T, Wright GD, Colman A, Burke B, Stewart CL, Dreesen O.
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| Elife 4. doi: 10.7554/eLife.07759.
2015
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| 3 | LMNA, PRO1, SUN1
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| Dysregulated interactions between lamin A and SUN1 induce abnormalities in the nuclear envelope and endoplasmic reticulum in progeric laminopathies.
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| Chen ZJ, Wang WP, Chen YC, Wang JY, Lin WH, Tai LA, Liou GG, Yang CS, Chi YH.
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| J Cell Sci 127(Pt 8):1792-804. doi: 10.1242/jcs.139683. Epub 2014 Feb 12.
2014
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| 4 | LMNA, PRO1, TPR
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| Defective nuclear import of Tpr in Progeria reflects the Ran sensitivity of large cargo transport.
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| Snow CJ, Dar A, Dutta A, Kehlenbach RH, Paschal BM.
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| J Cell Biol 201(4):541-57. doi: 10.1083/jcb.201212117. Epub 2013 May 6.
2013
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| 5 | LMNA, PRO1
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| Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome.
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| Gordon LB, Kleinman ME, Miller DT, Neuberg DS, Giobbie-Hurder A, Gerhard-Herman M, Smoot LB, Gordon CM, Cleveland R, Snyder BD, Fligor B, Bishop WR, Statkevich P, Regen A, Sonis A, Riley S, Ploski C, Correia A, Quinn N, Ullrich NJ, Nazarian A, Liang MG, Huh SY, Schwartzman A, Kieran MW.
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| Proc Natl Acad Sci U S A 109(41):16666-71. doi: 10.1073/pnas.1202529109. Epub 2012 Sep 24.
2012
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| 6 | LMNA, PRO1
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| Expression of the Hutchinson-Gilford progeria mutation during osteoblast development results in loss of osteocytes, irregular mineralization, and poor biomechanical properties.
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| Schmidt E, Nilsson O, Koskela A, Tuukkanen J, Ohlsson C, Rozell B, Eriksson M.
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| J Biol Chem 287(40):33512-22. Epub 2012 Aug 14.
2012
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| 7 | LMNA, PRO1, SUN1
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| Accumulation of the inner nuclear envelope protein Sun1 is pathogenic in progeric and dystrophic laminopathies.
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| Chen CY, Chi YH, Mutalif RA, Starost MF, Myers TG, Anderson SA, Stewart CL, Jeang KT.
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| Cell 149(3):565-77. doi: 10.1016/j.cell.2012.01.059.
2012
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| 8 | LMNA, PRO1
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| Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.
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| Reunert J, Wentzell R, Walter M, Jakubiczka S, Zenker M, Brune T, Rust S, Marquardt T.
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| Eur J Hum Genet 20(9):933-7. doi: 10.1038/ejhg.2012.36.
2012
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| 9 | PRO1
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| Progeria: translational insights from cell biology.
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| Gordon LB, Cao K, Collins FS.
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| J Cell Biol 199(1):9-13. doi: 10.1083/jcb.201207072.
2012
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| 10 | PRO1
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| Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome.
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| Liu GH, Barkho BZ, Ruiz S, Diep D, Qu J, Yang SL, Panopoulos AD, Suzuki K, Kurian L, Walsh C, Thompson J, Boue S, Fung HL, Sancho-Martinez I, Zhang K, Yates J 3rd, Izpisua Belmonte JC.
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| Nature 472(7342):221-5. Epub 2011 Feb 23.
2011
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| 11 | LMNA, PRO1
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| The defective nuclear lamina in Hutchinson-gilford progeria syndrome disrupts the nucleocytoplasmic Ran gradient and inhibits nuclear localization of Ubc9.
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| Kelley JB, Datta S, Snow CJ, Chatterjee M, Ni L, Spencer A, Yang CS, Cubeñas-Potts C, Matunis MJ, Paschal BM.
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| Mol Cell Biol 31(16):3378-95. Epub 2011 Jun 13.
2011
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| 12 | LMNA, PRO1
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| A conserved splicing mechanism of the LMNA gene controls premature aging.
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| Lopez-Mejia IC, Vautrot V, De Toledo M, Behm-Ansmant I, Bourgeois CF, Navarro CL, Osorio FG, Freije JM, Stévenin J, De Sandre-Giovannoli A, Lopez-Otin C, Lévy N, Branlant C, Tazi J.
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| Hum Mol Genet 20(23):4540-55. doi: 10.1093/hmg/ddr385. Epub 2011 Aug 29.
2011
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| 13 | LMNA, PRO1
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| Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition.
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| Marji J, O'Donoghue SI, McClintock D, Satagopam VP, Schneider R, Ratner D, Worman HJ, Gordon LB, Djabali K.
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| PLoS One 5(6):e11132.PMID: 20559568 2010
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| 14 | LMNA, PRO1
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| Activating the synthesis of progerin, the mutant prelamin A in Hutchinson-Gilford progeria syndrome, with antisense oligonucleotides.
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| Fong LG, Vickers TA, Farber EA, Choi C, Yun UJ, Hu Y, Yang SH, Coffinier C, Lee R, Yin L, Davies BS, Andres DA, Spielmann HP, Bennett CF, Young SG.
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| Hum Mol Genet 18(13):2462-71. Epub 2009 Apr 17.
2009
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| 15 | LMNA, PRO1
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| ncreased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging.
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| Rodriguez S, Coppedè F, Sagelius H, Eriksson M.
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| Eur J Hum Genet 17(7):928-37. Epub 2009 Jan 28.
2009
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| 16 | LMNA, PRO1
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| A progeria mutation reveals functions for lamin A in nuclear assembly, architecture, and chromosome organization.
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| Taimen P, Pfleghaar K, Shimi T, Möller D, Ben-Harush K, Erdos MR, Adam SA, Herrmann H, Medalia O, Collins FS, Goldman AE, Goldman RD.
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| Proc Natl Acad Sci U S A roc Natl Acad Sci U S A. 2009 Nov 19. [Epub ahead of print]PMID: 19926845 2009
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| 17 | BLM, RTS, IKBKG, PRO1, WRN1, WRN2
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| NEMO shuttle: a link between DNA damage and NF-kappaB activation in progeroid syndromes?
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| Salminen A, Suuronen T, Huuskonen J, Kaarniranta K.
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| Biochem Biophys Res Commun 367(4):715-8. Epub 2008 Jan 15. Review. 2008
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| 18 | LMNA, PRO1
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| Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin.
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| Wang Y, Panteleyev AA, Owens DM, Djabali K, Stewart CL, Worman HJ.
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| Hum Mol Genet 17(15):2357-69. Epub 2008 Apr 28.
2008
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| 19 | LMNA, PRO1
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| A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model.
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| Capell BC, Olive M, Erdos MR, Cao K, Faddah DA, Tavarez UL, Conneely KN, Qu X, San H, Ganesh SK, Chen X, Avallone H, Kolodgie FD, Virmani R, Nabel EG, Collins FS.
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| Proc Natl Acad Sci U S A 105(41):15902-7. Epub 2008 Oct 6.
2008
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| 20 | PRO1, LMNA
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| Alterations in mitosis and cell cycle progression caused by a mutant lamin A known to accelerate human aging.
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| Dechat T, Shimi T, Adam SA, Rusinol AE, Andres DA, Spielmann HP, Sinensky MS, Goldman RD.
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| Proc Natl Acad Sci U S A 104(12):4955-60. Epub 2007 Mar 14. 2007
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| 21 | LMNA, PRO1
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| A lamin A protein isoform overexpressed in Hutchinson-Gilford progeria syndrome interferes with mitosis in progeria and normal cells.
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| Cao K, Capell BC, Erdos MR, Djabali K, Collins FS.
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| Proc Natl Acad Sci U S A 104(12):4949-54. Epub 2007 Mar 14. 2007
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| 22 | WRN, LMNA, PRO1
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| Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases.
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| Kudlow BA, Kennedy BK, Monnat RJ Jr.
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| Nat Rev Mol Cell Biol 8(5):394-404. 2007
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| 23 | LMNA, PRO1
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| A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria.
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| Fong LG, Frost D, Meta M, Qiao X, Yang SH, Coffinier C, Young SG.
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| Science 311(5767):1621-3. Epub 2006 Feb 16. 2006
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| 24 | LMNA, PRO1
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| Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome.
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| Varga R, Eriksson M, Erdos MR, Olive M, Harten I, Kolodgie F, Capell BC, Cheng J, Faddah D, Perkins S, Avallone H, San H, Qu X, Ganesh S, Gordon LB, Virmani R, Wight TN, Nabel EG, Collins FS.
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| Proc Natl Acad Sci U S A 103(9):3250-5. Epub 2006 Feb 21. 2006
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| 25 | PRO1, LMNA
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| The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers.
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| Delbarre E, Tramier M, Coppey-Moisan M, Gaillard C, Courvalin JC, Buendia B.
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| Hum Mol Genet 15(7):1113-22. Epub 2006 Feb 15. 2006
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| 26 | LMNA, PRO1
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| Lamin A-dependent nuclear defects in human aging.
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| Scaffidi P, Misteli T.
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| Science 312(5776):1059-63. Epub 2006 Apr 27. 2006
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| 27 | ZMPSTE24, LMNA, PRO1
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| A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.
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| Denecke J, Brune T, Feldhaus T, Robenek H, Kranz C, Auchus RJ, Agarwal AK, Marquardt T.
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| Hum Mutat 27(6):524-31. 2006
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| 28 | LMNA, PRO1
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| Farnesyl transferase inhibitors: the 'fountain of youth' for progeria syndromes.
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| Kang M.
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| Clin Genet 70(2):108-9. No abstract available. 2006
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| 29 | LMNA, PRO1
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| Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.
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| Verstraeten VL, Broers JL, van Steensel MA, Zinn-Justin S, Ramaekers FC, Steijlen PM, Kamps M, Kuijpers HJ, Merckx D, Smeets HJ, Hennekam RC, Marcelis CL, van den Wijngaard A.
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| Hum Mol Genet 15(16):2509-22. Epub 2006 Jul 6. 2006
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| 30 | LMNA, MCPRS, PRO1
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| Molecular bases of progeroid syndromes.
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| Navarro CL, Cau P, Levy N.
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| Hum Mol Genet 15 Spec No 2:R151-61. 2006
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| 31 | LMNA, EMD2 , LGMD1B , CMD1A , CMT2B1 , FPLD2 , MADYS1 , PRO1 , WRN2 , RDMP2 , LDHCP , EMD3 , MCPRS
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| The laminopathies: a clinical review.
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| Rankin J, Ellard S.
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| Clin Genet 70(4):261-74. 2006
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| 32 | LMNA, EMD2, EMD3, LGMD1B, CMD1A, CMT2B1, FPLD2, MADYS1, PRO1, WRN2, RDMP2 , LDHCP, MCPRS
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| Human laminopathies: nuclei gone genetically awry.
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| Capell BC, Collins FS.
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| Nat Rev Genet 7(12):940-52. 2006
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| 33 | PRO1, LMNA
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| Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome.
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| Scaffidi P, Misteli T.
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| Nat Med 11(4):440-5. Epub 2005 Mar 6. 2005
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| 34 | LMNA, PRO1, EMD2, CMD1A, FPLD2
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| LMNA mutation position predicts organ system involvement in laminopathies.
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| Hegele R.
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| Clin Genet 68(1):31-4. 2005
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| 35 | LMNA, PRO1
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| Genomic instability in laminopathy-based premature aging.
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| Liu B, Wang J, Chan KM, Tjia WM, Deng W, Guan X, Huang JD, Li KM, Chau PY, Chen DJ, Pei D, Pendas AM, Cadinanos J, Lopez-Otin C, Tse HF, Hutchison C, Chen J, Cao Y, Cheah KS, Tryggvason K, Zhou Z.
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| Nat Med 11(7):780-5. Epub 2005 Jun 26. 2005
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| 36 | LMNA, PRO1
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| Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome.
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| Capell BC, Erdos MR, Madigan JP, Fiordalisi JJ, Varga R, Conneely KN, Gordon LB, Der CJ, Cox AD, Collins FS.
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| Proc Natl Acad Sci U S A 102(36):12879-84. Epub 2005 Aug 29. 2005
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| 37 | LMNA, PRO1
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| Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome.
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| Mallampalli MP, Huyer G, Bendale P, Gelb MH, Michaelis S.
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| Proc Natl Acad Sci U S A 102(40):14416-21. Epub 2005 Sep 26. 2005
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| 38 | LMNA, PRO1
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| Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition.
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| Glynn MW, Glover TW.
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| Hum Mol Genet 14(20):2959-69. Epub 2005 Aug 26. 2005
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| 39 | PRO1, LMNA
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| Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference.
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| Huang S, Chen L, Libina N, Janes J, Martin GM, Campisi J, Oshima J.
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| Hum Genet 118(3-4):444-50. Epub 2005 Oct 6. 2005
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| 40 | LMNA, PRO1
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| Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.
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| Csoka AB, Cao H, Sammak PJ, Constantinescu D, Schatten GP, Hegele RA.
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| J Med Genet 41(4):304-8. No abstract available. 2004
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| 41 | LMNA, PRO1
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| Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.
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| Plasilova M, Chattopadhyay C, Pal P, Schaub NA, Buechner SA, Mueller H, Miny P, Ghosh A, Heinimann K.
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| J Med Genet 41(8):609-14. No abstract available. 2004
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| 42 | LMNA, PRO1
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| Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site selection in Hutchinson-Gilford progeria syndrome.
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| Reddel CJ, Weiss AS.
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| J Med Genet 41(9):715-7. No abstract available. 2004
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| 43 | RDMP1, RDMP2, LMNA, ZMPSTE24, PRO1
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| Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
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| Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N.
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| Hum Mol Genet 13(20):2493-503. Epub 2004 Aug 18. 2004
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| 44 | PRO1
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| Hutchinson-Gilford progeria syndrome.
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| Pollex RL, Hegele RA.
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| Clin Genet 66(5):375-81. 2004
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| 45 | LMNA, PRO1
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| Lamin a truncation in Hutchinson-Gilford progeria.
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| De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Levy N.
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| Science 300(5628):2055. Epub 2003 Apr 17. No abstract available. 2003
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| 46 | LMNA, PRO1
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| Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
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| Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS.
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| Nature 423(6937):293-8. 2003
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| 47 | LMNA, PRO1
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| LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
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| Cao H, Hegele RA.
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| J Hum Genet 48(5):271-4. Epub 2003 Apr 03. 2003
|