LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset

American Journal of Medical Genetics, Part A

Volumn 161, Issue 7, 2013, Pages 1599-1611

  Kane, Megan S ^a   Lindsay, Mark E ^a,c   Judge, Daniel P ^a   Barrowman, Jemima ^a,d   Ap Rhys, Colette ^a   Simonson, Lisa ^a   Dietz, Harry C ^a,b   Michaelis, Susan ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d NATIONAL CANCER INSTITUTE   (United States)

Author keywords

Atypical progeria; Atypical Werner syndrome; Cancer; Farnesyl; FTI; HGPS; Lamin A C; Laminopathy; LMNA; MAD A; Prelamin A; Progeria; RD; ZMPSTE24

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; LAMIN A; LAMIN C; PROTEIN FARNESYLTRANSFERASE INHIBITOR;

ADULT; ANGIOCARDIOGRAPHY; ANIMAL CELL; ARTICLE; ATHEROSCLEROSIS; AUTOPSY; BASAL CELL CARCINOMA; CANCER SUSCEPTIBILITY; CARDIOMYOPATHY; CASE REPORT; CAUSE OF DEATH; DISEASE COURSE; ENZYME INHIBITION; FEMALE; FIBROBLAST; GENE; GENE ACTIVITY; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HEART INFARCTION; HEART MUSCLE BIOPSY; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HUTCHINSON SYNDROME; HYPERTENSION; LAMINOPATHY; LEOPARD SYNDROME; LMNA ASSOCIATED CARDIOCUTANEOUS PROGERIA SYNDROME; LMNA GENE; MITRAL VALVE REGURGITATION; MITRAL VALVE REPLACEMENT; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROGERIA; THORAX PAIN; VALVULAR HEART DISEASE;

ADULT; AGE OF ONSET; ANIMALS; ATHEROSCLEROSIS; CARDIOVASCULAR DISEASES; ENZYME INHIBITORS; FARNESYLTRANSTRANSFERASE; FEMALE; FIBROBLASTS; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; LAMIN TYPE A; MALE; MICE; MUTATION; NEOPLASMS; NIH 3T3 CELLS; NUCLEAR ENVELOPE; PROGERIA; PROTEIN MODIFICATION, TRANSLATIONAL; SYNDROME;

EID: 84879462736     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35971     Document Type: Article

References (83)

1. Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. 2012. An integrated map of genetic variation from 1, 092 human genomes. Nature 491:56-65.
2. Aebi U, Cohn J, Buhle L, Gerace L. 1986. The nuclear lamina is a meshwork of intermediate-type filaments. Nature 323:560-564.
3. Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M. 2012. A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome. Eur J Hum Genet 20:1134-1140.
4. Barrowman J, Michaelis S. 2009. ZMPSTE24, an integral membrane zinc metalloprotease with a connection to progeroid disorders. Biol Chem 390:761-773.
5. Barrowman J, Hamblet C, George CM, Michaelis S. 2008. Analysis of prelamin A biogenesis reveals the nucleus to be a CaaX processing compartment. Mol Biol Cell 19:5398-5408.
6. Barrowman J, Hamblet C, Kane MS, Michaelis S. 2012a. Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24. PLoS ONE 7:e32120.
7. Barrowman J, Wiley PA, Hudon-Miller SE, Hrycyna CA, Michaelis S. 2012b. Human ZMPSTE24 disease mutations: Residual proteolytic activity correlates with disease severity. Hum Mol Genet 21:4084-4093.
8. Bertrand AT, Chikhaoui K, Yaou RB, Bonne G. 2011. Clinical and genetic heterogeneity in laminopathies. Biochem Soc Trans 39:1687-1692.
9. Bruston F, Delbarre E, Ostlund C, Worman HJ, Buendia B, Duband-Goulet I. 2010. Loss of a DNA binding site within the tail of prelamin A contributes to altered heterochromatin anchorage by progerin. FEBS Lett 584:2999-3004.
10. Burtner CR, Kennedy BK. 2010. Progeria syndromes and ageing: What is the connection? Nat Rev Mol Cell Biol 11:567-578.
11. Butin-Israeli V, Adam SA, Goldman AE, Goldman RD. 2012. Nuclear lamin functions and disease. Trends Genet 28:464-471.
12. Candelario J, Borrego S, Reddy S, Comai L. 2011. Accumulation of distinct prelamin A variants in human diploid fibroblasts differentially affects cell homeostasis. Exp Cell Res 317:319-329.
13. Cao H, Hegele RA. 2003. LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J Hum Genet 48:271-274.
14. Capanni C, Mattioli E, Columbaro M, Lucarelli E, Parnaik VK, Novelli G, Wehnert M, Cenni V, Maraldi NM, Squarzoni S, Lattanzi G. 2005. Altered pre-lamin A processing is a common mechanism leading to lipodystrophy. Hum Mol Genet 14:1489-1502.
15. Capell BC, Erdos MR, Madigan JP, Fiordalisi JJ, Varga R, Conneely KN, Gordon LB, Der CJ, Cox AD, Collins FS. 2005. Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A 102:12879-12884.
16. Caux F, Dubosclard E, Lascols O, Buendia B, Chazouilleres O, Cohen A, Courvalin JC, Laroche L, Capeau J, Vigouroux C, Christin-Maitre S. 2003. A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. J Clin Endocrinol Metab 88:1006-1013.
17. Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y, Botha EG, Garg A, Hanson NB, Martin GM, Mian IS, Kennedy BK, Oshima J. 2003. LMNA mutations in atypical Werner's syndrome. Lancet 362:440-445.
18. Chen CY, Chi YH, Mutalif RA, Starost MF, Myers TG, Anderson SA, Stewart CL, Jeang KT. 2012. Accumulation of the inner nuclear envelope protein Sun1 is pathogenic in progeric and dystrophic laminopathies. Cell 149:565-577.
19. Csoka AB, Cao H, Sammak PJ, Constantinescu D, Schatten GP, Hegele RA. 2004. Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. J Med Genet 41:304-308.
20. Davies BS, Fong LG, Yang SH, Coffinier C, Young SG. 2009. The posttranslational processing of prelamin A and disease. Annu Rev Genomics Hum Genet 10:153-174.
21. 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. 2003. Lamin a truncation in Hutchinson-Gilford progeria. Science 300:2055.
22. Dechat T, Pfleghaar K, Sengupta K, Shimi T, Shumaker DK, Solimando L, Goldman RD. 2008. Nuclear lamins: Major factors in the structural organization and function of the nucleus and chromatin. Genes Dev 22:832-853.
23. Dechat T, Gesson K, Foisner R. 2010. Lamina-independent lamins in the nuclear interior serve important functions. Cold Spring Harb Symp Quant Biol 75:533-5343.
24. Denecke J, Brune T, Feldhaus T, Robenek H, Kranz C, Auchus RJ, Agarwal AK, Marquardt T. 2006. 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. Hum Mutat 27:524-531.
25. Dittmer TA, Misteli T. 2011. The lamin protein family. Genome Biol 12:222.
26. Doubaj Y, De Sandre-Giovannoli A, Vera EV, Navarro CL, Elalaoui SC, Tajir M, Levy N, Sefiani A. 2012. An inherited LMNA gene mutation in atypical progeria syndrome. Am J Med Genet Part A 158A:2881-2887.
27. 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. 2003. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423:293-298.
28. Feigenbaum A, Muller C, Yale C, Kleinheinz J, Jezewski P, Kehl HG, Macdougall M, Rutsch F, Hennekam RC. 2013. Singleton-Merten syndrome: An autosomal dominant disorder with variable expression. Am J Med Genet Part A 161:360-370.
29. Garg A, Vinaitheerthan M, Weatherall PT, Bowcock AM. 2001. Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene. J Clin Endocrinol Metab 86:59-65.
30. Garg A, Subramanyam L, Agarwal AK, Simha V, Levine B, D'Apice MR, Novelli G, Crow Y. 2009. Atypical progeroid syndrome due to heterozygous missense LMNA mutations. J Clin Endocrinol Metab 94:4971-4983.
31. Genschel J, Bochow B, Kuepferling S, Ewert R, Hetzer R, Lochs H, Schmidt H. 2001. A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy. Hum Mutat 17:154.
32. Glynn MW, Glover TW. 2005. Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition. Hum Mol Genet 14:2959-2969.
33. Hanumanthappa NB, Madhusudan G, Mahimarangaiah J, Manjunath CN. 2011. Hutchinson-Gilford progeria syndrome with severe calcific aortic valve stenosis. Ann Pediatr Cardiol 4:204-206.
34. Hennekam RC. 2006. Hutchinson-Gilford progeria syndrome: Review of the phenotype. Am J Med Genet Part A 140A:2603-2624.
35. Hermida-Prieto M, Monserrat L, Castro-Beiras A, Laredo R, Soler R, Peteiro J, Rodriguez E, Bouzas B, Alvarez N, Muniz J, Crespo-Leiro M. 2004. Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. Am J Cardiol 94:50-54.
36. Hernandez L, Roux KJ, Wong ES, Mounkes LC, Mutalif R, Navasankari R, Rai B, Cool S, Jeong JW, Wang H, Lee HS, Kozlov S, Grunert M, Keeble T, Jones CM, Meta MD, Young SG, Daar IO, Burke B, Perantoni AO, Stewart CL. 2010. Functional coupling between the extracellular matrix and nuclear lamina by Wnt signaling in progeria. Dev Cell 19:413-425.
37. Hisama FM, Lessel D, Leistritz D, Friedrich K, McBride KL, Pastore MT, Gottesman GS, Saha B, Martin GM, Kubisch C, Oshima J. 2011. Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A. Am J Med Genet Part A 155A:3002-3006.
38. Huang S, Kennedy BK, Oshima J. 2005. LMNA mutations in progeroid syndromes. Novartis Found Symp 264:197-202; discussion 202-207, 227-230.
39. Hubner S, Eam JE, Hubner A, Jans DA. 2006. Laminopathy-inducing lamin A mutants can induce redistribution of lamin binding proteins into nuclear aggregates. Exp Cell Res 312:171-183.
40. Jacob KN, Garg A. 2006. Laminopathies: Multisystem dystrophy syndromes. Mol Genet Metab 87:289-302.
41. Jacob KN, Baptista F, dos Santos HG, Oshima J, Agarwal AK, Garg A. 2005. Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation. J Clin Endocrinol Metab 90:6699-6706.
42. Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D. 2002. The human genome browser at UCSC. Genome Res 12:996-1006.
43. King CR, Lemmer J, Campbell JR, Atkins AR. 1978. Osteosarcoma in a patient with Hutchinson-Gilford progeria. J Med Genet 15:481-484.
44. Kirschner J, Brune T, Wehnert M, Denecke J, Wasner C, Feuer A, Marquardt T, Ketelsen UP, Wieacker P, Bonnemann CG, Korinthenberg R. 2005. p.S143F mutation in lamin A/C: A new phenotype combining myopathy and progeria. Ann Neurol 57:148-151.
45. Kubben N, Voncken JW, Konings G, van Weeghel M, van den Hoogenhof MM, Gijbels M, van Erk A, Schoonderwoerd K, van den Bosch B, Dahlmans V, Calis C, Houten SM, Misteli T, Pinto YM. 2011. Post-natal myogenic and adipogenic developmental: Defects and metabolic impairment upon loss of A-type lamins. Nucleus 2:195-207.
46. Liang L, Zhang H, Gu X. 2009. Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: Evidence for autosomal recessive inheritance. Acta Paediatr 98:1365-1368.
47. Liu Y, Rusinol A, Sinensky M, Wang Y, Zou Y. 2006. DNA damage responses in progeroid syndromes arise from defective maturation of prelamin A. J Cell Sci 119:4644-4649.
48. Madej-Pilarczyk A, Rosinska-Borkowska D, Rekawek J, Marchel M, Szalus E, Jablonska S, Hausmanowa-Petrusewicz I. 2009. Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation. Am J Med Genet Part A 149A:2387-2392.
49. Mallampalli MP, Huyer G, Bendale P, Gelb MH, Michaelis S. 2005. Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A 102:14416-14421.
50. McCord R, Nazario-Toole A, Zhang H, Chines P, Zhan Y, Erdos M, Collins F, Dekker J, Cao K. 2013. Correlated alterations in genome organization, histone methylation, and DNA-lamin A/C interactions in Hutchinson-Gilford progeria syndrome. Genome Res 23:260-269.
51. McPherson E, Turner L, Zador I, Reynolds K, Macgregor D, Giampietro PF. 2009. Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. Am J Med Genet Part A 149A:567-572.
52. Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO III, Gahl WA, Introne WJ. 2008. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med 358:592-604.
53. Meshorer E, Gruenbaum Y. 2008. Gone with the Wnt/Notch: Stem cells in laminopathies, progeria, and aging. J Cell Biol 181:9-13.
54. Mory PB, Crispim F, Kasamatsu T, Gabbay MA, Dib SA, Moises RS. 2008. Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation. Arq Bras Endocrinol Metabol 52:1252-1256.
55. Moulson CL, Go G, Gardner JM, van der Wal AC, Smitt JH, van Hagen JM, Miner JH. 2005. Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. J Invest Dermatol 125:913-919.
56. Muchir A, Pavlidis P, Decostre V, Herron AJ, Arimura T, Bonne G, Worman HJ. 2007. Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. J Clin Invest 117:1282-1293.
57. Navarro CL, Cadinanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RC, Lopez-Otin C, Badens C, Levy N. 2005. Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Hum Mol Genet 14:1503-1513.
58. Parnaik VK, Manju K. 2006. Laminopathies: Multiple disorders arising from defects in nuclear architecture. J Biosci 31:405-421.
59. Pegoraro G, Kubben N, Wickert U, Gohler H, Hoffmann K, Misteli T. 2009. Ageing-related chromatin defects through loss of the NURD complex. Nat Cell Biol 11:1261-1267.
60. Peinado JR, Quiros PM, Pulido MR, Marino G, Martinez-Chantar ML, Vazquez-Martinez R, Freije JM, Lopez-Otin C, Malagon MM. 2011. Proteomic profiling of adipose tissue from Zmpste24-/- mice, a model of lipodystrophy and premature aging, reveals major changes in mitochondrial function and vimentin processing. Mol Cell Proteomics 10:M111008094.
61. Perrot A, Hussein S, Ruppert V, Schmidt HH, Wehnert MS, Duong NT, Posch MG, Panek A, Dietz R, Kindermann I, Bohm M, Michalewska-Wludarczyk A, Richter A, Maisch B, Pankuweit S, Ozcelik C. 2009. Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. Basic Res Cardiol 104:90-99.
62. Philip JT, Dahl KN. 2008. Nuclear mechanotransduction: Response of the lamina to extracellular stress with implications in aging. J Biomech 41:3164-3170.
63. Plasilova M, Chattopadhyay C, Pal P, Schaub NA, Buechner SA, Mueller H, Miny P, Ghosh A, Heinimann K. 2004. Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. J Med Genet 41:609-614.
64. Prokocimer M, Davidovich M, Nissim-Rafinia M, Wiesel-Motiuk N, Bar DZ, Barkan R, Meshorer E, Gruenbaum Y. 2009. Nuclear lamins: Key regulators of nuclear structure and activities. J Cell Mol Med 13:1059-1085.
65. Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen TD, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, Longman C, McWilliam R, Owen K, Walker M, Wehnert M, Ellard S. 2008. Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet Part A 146A:1530-1542.
66. Renard D, Fourcade G, Milhaud D, Bessis D, Esteves-Vieira V, Boyer A, Roll P, Bourgeois P, Levy N, De Sandre-Giovannoli A. 2009. Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease. Stroke 40:e11-e14.
67. Rodriguez G, Czernuszewicz G, Tan Y, Kleiman N, Torre-Amione G, Willerson JT, Sims S, Marian AJ. 2008. Phenotypic plasticity of LMNA mutations in cardiovascular system includes isolated cardia progeria, dilated and hypertrophic cardiomyopathies, atrial fibrillation, conduction defects and degenerative valvular diseases. Circulation 118:S883-S884.
68. Salamat M, Dhar PK, Neagu DL, Lyon JB. 2010. Aortic calcification in a patient with Hutchinson-Gilford progeria syndrome. Pediatr Cardiol 31:925-926.
69. Scaffidi P, Misteli T. 2008. Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing. Nat Cell Biol 10:452-459.
70. Shalev SA, De Sandre-Giovannoli A, Shani AA, Levy N. 2007. An association of Hutchinson-Gilford progeria and malignancy. Am J Med Genet Part A 143A:1821-1826.
71. Shimi T, Pfleghaar K, Kojima S, Pack CG, Solovei I, Goldman AE, Adam SA, Shumaker DK, Kinjo M, Cremer T, Goldman RD. 2008. The A- and B-type nuclear lamin networks: Microdomains involved in chromatin organization and transcription. Genes Dev 22:3409-3421.
72. Toth JI, Yang SH, Qiao X, Beigneux AP, Gelb MH, Moulson CL, Miner JH, Young SG, Fong LG. 2005. Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes. Proc Natl Acad Sci U S A 102:12873-12878.
73. Van Esch H, Agarwal AK, Debeer P, Fryns JP, Garg A. 2006. A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. J Clin Endocrinol Metab 91:517-521.
74. Varela I, Pereira S, Ugalde AP, Navarro CL, Suarez MF, Cau P, Cadinanos J, Osorio FG, Foray N, Cobo J, de Carlos F, Levy N, Freije JM, Lopez-Otin C. 2008. Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging. Nat Med 14:767-772.
75. 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. 2006. Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation. Hum Mol Genet 15:2509-2522.
76. Verstraeten VL, Ji JY, Cummings KS, Lee RT, Lammerding J. 2008. Increased mechanosensitivity and nuclear stiffness in Hutchinson-Gilford progeria cells: Effects of farnesyltransferase inhibitors. Aging Cell 7:383-393.
77. Vigouroux C, Capeau J. 2005. A-type lamin-linked lipodystrophies. Novartis Found Symp 264:166-177; discussion 177-182, 227-230.
78. Vigouroux C, Caux F, Capeau J, Christin-Maitre S, Cohen A. 2003. LMNA mutations in atypical Werner's syndrome. Lancet 362:1585; author reply 1586.
79. Worman HJ, Bonne G. 2007. " Laminopathies": A wide spectrum of human diseases. Exp Cell Res 313:2121-2133.
80. Worman HJ, Fong LG, Muchir A, Young SG. 2009. Laminopathies and the long strange trip from basic cell biology to therapy. J Clin Invest 119:1825-1836.
81. Yang SH, Qiao X, Farber E, Chang SY, Fong LG, Young SG. 2008. Eliminating the synthesis of mature lamin A reduces disease phenotypes in mice carrying a Hutchinson-Gilford progeria syndrome allele. J Biol Chem 283:7094-7099.
82. Yang SH, Chang SY, Andres DA, Spielmann HP, Young SG, Fong LG. 2010. Assessing the efficacy of protein farnesyltransferase inhibitors in mouse models of progeria. J Lipid Res 51:400-405.
83. Zirn B, Kress W, Grimm T, Berthold LD, Neubauer B, Kuchelmeister K, Muller U, Hahn A. 2008. Association of homozygous LMNA mutation R471C with new phenotype: Mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy. Am J Med Genet Part A 146A:1049-1054.