Emerging perspectives on laminopathies

References

• Hoelz A, Debler EW, Blobel G. The structure of the nuclear pore complex. Annu Rev Biochem. 2011;80:613–643.
   PubMed Web of Science ®Google Scholar
• Khadija SG, Chen F, Hadden T, Commissaris RL, Kowluru A. Biology and regulatory roles of nuclear lamins in cellular function and dysfunction. Recent Pat Endocr Metab Immune Drug Discov. 2015;9:111–120.
   Google Scholar
• Davidson PM, Lammerding J. Broken nuclei – lamins, nuclear mechanics, and disease. Trends Cell Biol. 2014;24:247–256.
   PubMed Web of Science ®Google Scholar
• Bione S, Maestrini E, Rivella S, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994;8:323–327.
   PubMed Web of Science ®Google Scholar
• Camozzi D, Capanni C, Cenni V, et al. Diverse lamin-dependent mechanisms interact to control chromatin dynamics: focus on laminopathies. Nucleus. 2014;5:427–440.
   PubMed Web of Science ®Google Scholar
• Houben F, Ramaekers FC, Snoeckx LH, Broers JL. Role of nuclear lamina-cytoskeleton interactions in the maintenance of cellular strength. Biochim Biophys Acta. 2007;1773:675–686.
   PubMed Web of Science ®Google Scholar
• Maraldi NM, Capanni C, Cenni V, Fini M, Lattanzi G. Laminopathies and lamin-associated signaling pathways. J Cell Biochem. 2011;112:979–992.
   PubMed Web of Science ®Google Scholar
• Zini N, Avnet S, Ghisu S, et al. Effects of prelamin A processing inhibitors on the differentiation and activity of human osteoclasts. J Cell Biochem. 2008;105:34–40.
   Web of Science ®Google Scholar
• Jung HJ, Coffinier C, Choe Y, et al. Regulation of prelamin A but not lamin C by miR-9, a brain-specific microRNA. Proc Natl Acad Sci U S A. 2012;109:E423–E431.
   PubMed Web of Science ®Google Scholar
• Lattanzi G. Prelamin A-mediated nuclear envelope dynamics in normal and laminopathic cells. Biochem Soc Trans. 2011;39:1698–1704.
   Web of Science ®Google Scholar
• Capanni C, Cenni V, Haraguchi T, et al. Lamin A precursor induces barrier-to-autointegration factor nuclear localization. Cell Cycle. 2010;9:2600–2610.
   PubMed Web of Science ®Google Scholar
• Jung HJ, Nobumori C, Goulbourne CN, et al. Farnesylation of lamin B1 is important for retention of nuclear chromatin during neuronal migration. Proc Natl Acad Sci U S A. 2013;110:E1923–E1932.
   PubMed Web of Science ®Google Scholar
• Lattanzi G, Columbaro M, Mattioli E, et al. Pre-lamin A processing is linked to heterochromatin organization. J Cell Biochem. 2007;102:1149–1159.
   PubMed Web of Science ®Google Scholar
• Infante A, Gago A, de Eguino GR, et al. Prelamin A accumulation and stress conditions induce impaired Oct-1 activity and autophagy in prematurely aged human mesenchymal stem cell. Aging (Albany NY). 2014;6:264–280.
   Google Scholar
• Kind J, van Steensel B. Stochastic genome-nuclear lamina interactions: modulating roles of lamin A and BAF. Nucleus. 2014;5:124–130.
   PubMed Web of Science ®Google Scholar
• Wagner N, Krohne G. LEM-domain proteins: new insights into lamin-interacting proteins. Int Rev Cytol. 2007;261:1–46.
   PubMedGoogle Scholar
• Guelen L, Pagie L, Brasset E, et al. Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions. Nature. 2008;453:948–951.
   PubMed Web of Science ®Google Scholar
• Lattanzi G, Ortolani M, Columbaro M, et al. Lamins are rapamycin targets that impact human longevity: a study in centenarians. J Cell Sci. 2014;127:147–157.
   PubMed Web of Science ®Google Scholar
• Meinke P, Mattioli E, Haque F, et al. Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization. PLoS Genet. 2014;10:e1004605.
   PubMed Web of Science ®Google Scholar
• Evangelisti C, Bernasconi P, Cavalcante P, et al. Modulation of TGFβ 2 levels by lamin A in U2-OS osteoblast-like cells: understanding the osteolytic process triggered by altered lamins. Oncotarget. 2015;6:7424–7437.
   PubMedGoogle Scholar
• Chatzifrangkeskou M, Bonne G, Muchir A. Nuclear envelope and striated muscle diseases. Curr Opin Cell Biol. 2014;32:1–6.
   Web of Science ®Google Scholar
• Zhang X, Xu R, Zhu B, et al. Syne-1 and Syne-2 play crucial roles in myonuclear anchorage and motor neuron innervation. Development. 2007;134:901–908.
   PubMed Web of Science ®Google Scholar
• Taylor MR, Slavov D, Gajewski A, et al. Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. Hum Mutat. 2005;26:566–574.
   PubMed Web of Science ®Google Scholar
• Kayman-Kurekci G, Talim B, Korkusuz P, et al. Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. Neuromuscul Disord. 2014;24:624–633.
   PubMed Web of Science ®Google Scholar
• Liang WC, Mitsuhashi H, Keduka E, et al. TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. Ann Neurol. 2011;69:1005–1013.
   PubMed Web of Science ®Google Scholar
• Padiath QS, Saigoh K, Schiffmann R, et al. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet. 2006;38:1114–1123.
   PubMed Web of Science ®Google Scholar
• Sharma N, Franco RA Jr, Kuster J, et al. Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia. Mov Disord. 2010;25:2183–2187.
   PubMed Web of Science ®Google Scholar
• Isermann P, Lammerding J. Nuclear mechanics and mechanotransduction in health and disease. Curr Biol. 2013;23:R1113–R1121.
   PubMed Web of Science ®Google Scholar
• Swift J, Ivanovska IL, Buxboim A, et al. Nuclear lamin-A scales with tissue stiffness and enhances matrix-directed differentiation. Science. 2013;341:1240104.
   PubMed Web of Science ®Google Scholar
• Bertrand AT, Ziaei S, Ehret C, et al. Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors. J Cell Sci. 2014;127:2873–2884.
   Web of Science ®Google Scholar
• Mounkes LC, Kozlov SV, Rottman JN, Stewart CL. Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice. Hum Mol Genet. 2005;14:2167–2180.
   PubMed Web of Science ®Google Scholar
• Muchir A, Pavlidis P, Bonne G, Hayashi YK, Worman HJ. Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy. Hum Mol Genet. 2007;16:1884–1895.
   PubMed Web of Science ®Google Scholar
• Muchir A, Pavlidis P, Decostre V, et al. Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. J Clin Invest 2007;117:1282–1293.
   Google Scholar
• Ramos FJ, Chen SC, Garelick MG, et al. Rapamycin reverses elevated mTORC1 signaling in lamin A/C-deficient mice, rescues cardiac and skeletal muscle function, and extends survival. Sci Transl Med. 2012;4:144ra103.
   PubMed Web of Science ®Google Scholar
• Cohen TV, Gnocchi VF, Cohen JE, et al. Defective skeletal muscle growth in lamin A/C-deficient mice is rescued by loss of Lap2α. Hum Mol Genet. 2013;22:2852–2869.
   PubMed Web of Science ®Google Scholar
• Novelli G, D’Apice MR. Protein farnesylation and disease. J Inherit Metab Dis. 2012;35:917–926.
   PubMed Web of Science ®Google Scholar
• Liu B, Wang J, Chan KM, et al. Genomic instability in laminopathy-based premature aging. Nat Med. 2005;11:780–785.
   PubMed Web of Science ®Google Scholar
• Liu Y, Rusinol A, Sinensky M, Wang Y, Zou Y. DNA damage responses in progeroid syndromes arise from defective maturation of prelamin A. J Cell Sci. 2006;119:4644–4649.
   PubMed Web of Science ®Google Scholar
• di Masi A, D’Apice MR, Ricordy R, Tanzarella C, Novelli G. The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation. Cell Cycle. 2008;7:2030–2037.
   PubMed Web of Science ®Google Scholar
• Cabanillas R, Cadinanos J, Villameytide JA, et al. Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations. Am J Med Genet A. 2011;155A:2617–2625.
   Web of Science ®Google Scholar
• Puente XS, Quesada V, Osorio FG, et al. Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. Am J Hum Genet. 2011;88:650–656.
   PubMed Web of Science ®Google Scholar
• Weedon MN, Ellard S, Prindle MJ, et al. An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet. 2013;45:947–950.
   PubMed Web of Science ®Google Scholar
• Pelosini C, Martinelli S, Ceccarini G, et al. Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome. Metabolism. 2014;63:1385–1389.
   PubMed Web of Science ®Google Scholar
• Goto M, Imamura O, Kuromitsu J, et al. Analysis of helicase gene mutations in Japanese Werner’s syndrome patients. Hum Genet. 1997;99:191–193.
   PubMed Web of Science ®Google Scholar
• Chen L, Lee L, Kudlow BA, et al. LMNA mutations in atypical Werner’s syndrome. Lancet. 2003;9;362(9382):440–445.
   Google Scholar
• Mercuri E, Poppe M, Quinlivan R, et al. Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. Arch Neurol. 2004;61:690–694.
   PubMed Web of Science ®Google Scholar
• Maggi L, D’Amico A, Pini A, et al. LMNA-associated myopathies: the Italian experience in a large cohort of patients. Neurology. 2014;83:1634–1644.
   PubMed Web of Science ®Google Scholar
• Mercuri E, Clements E, Offiah A, et al. Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol. 2010;67:201–208.
   Web of Science ®Google Scholar
• Bonne G, Di Barletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet. 1999;21:285–288.
   PubMed Web of Science ®Google Scholar
• Emery AE. Emery-Dreifuss muscular dystrophy: a 40-year retrospective. Neuromuscul Disord. 2000;10:228–232.
   PubMed Web of Science ®Google Scholar
• Meune C, Van Berlo JH, Anselme F, Bonne G, Pinto YM, Duboc D. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med. 2006;354:209–210.
   PubMed Web of Science ®Google Scholar
• Muchir, A, Bonne G, van der Kooi AJ, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet. 2000;9:1453–1459.
   PubMed Web of Science ®Google Scholar
• Bonne G, Mercuri E, Muchir A, et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol. 2000;48:170–180.
   PubMed Web of Science ®Google Scholar
• Boriani G, Gallina M, Merlini L, et al. Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. Stroke. 2003;34:901–908.
   PubMed Web of Science ®Google Scholar
• Pasotti M, Klersy C, Pilotto A, et al. Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol. 2008;52:1250–1260.
   PubMed Web of Science ®Google Scholar
• Gueneau L, Bertrand AT, Jis JP, et al. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet. 2009;85:338–353.
   PubMed Web of Science ®Google Scholar
• Quijano-Roy S, Mbieleu B, Bönnemann CG, et al. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol. 2008;64:177–186.
   PubMed Web of Science ®Google Scholar
• Menezes MP, Waddell LB, Evesson FJ, et al. Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology. 2012;78:1258–1263.
   PubMed Web of Science ®Google Scholar
• Hattori A, Komaki H, Kawatani M, et al. A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement. Neuromuscul Disord. 2012;22:149–151.
   PubMed Web of Science ®Google Scholar
• Benedetti S, Menditto I, Degano M, et al. Phenotypic clustering of lamin A/C mutations in neuromuscular patients. Neurology. 2007;69:1285–1292.
   PubMed Web of Science ®Google Scholar
• Muntoni F, Bonne G, Goldfarb LG, et al. Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Brain. 2006;129:1260–1268.
   PubMed Web of Science ®Google Scholar
• Granger B, Gueneau L, Drouin-Garraud V, et al. Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy. Hum Genet. 2011;129:149–159.
   PubMed Web of Science ®Google Scholar
• Arimura T, Onoue K, Takahashi-Tanaka Y. Nuclear accumulation of androgen receptor in gender difference of dilated cardiomyopathy due to lamin A/C mutations. Cardiovasc Res. 2013;99:382–394.
   Web of Science ®Google Scholar
• Fatkin D, MacRae C, Sasaki T, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med. 1999;341:1715–1724.
   PubMed Web of Science ®Google Scholar
• Vytopil M, Benedetti S, Ricci E, et al. Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet. 2003;40:e132.
   PubMed Web of Science ®Google Scholar
• van Berlo JH, de Voogt WG, van der Kooi AJ, et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? J Mol Med (Berl). 2005;83:79–83.
   PubMed Web of Science ®Google Scholar
• Nigro G, Russo V, Rago A, et al. Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy. Kardiol Pol. 2012;70:1154–1159.
   PubMed Web of Science ®Google Scholar
• Russo V, Rago A, Politano L, et al. Increased dispersion of ventricular repolarization in Emery Dreifuss muscular dystrophy patients. Med Sci Monit. 2012;18:CR643–CR647.
   Web of Science ®Google Scholar
• van Rijsingen IA, Nannenberg EA, Arbustini E, et al. Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. Eur J Heart Fail. 2013;15:376–384.
   PubMed Web of Science ®Google Scholar
• De Sandre-Giovannoli A, Bernard R, Cau P, et al. Lamin A truncation in Hutchinson-Gilford progeria. Science. 2003;300:2055.
   PubMed Web of Science ®Google Scholar
• Eriksson M, Brown WT, Gordon LB, et al. Recurrent de novo mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003;423:293–298.
   PubMed Web of Science ®Google Scholar
• Plasilova M, Chattopadhyay C, Pal P, et al. Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. J Med Genet. 2004;41:609–614.
   Web of Science ®Google Scholar
• Madej-Pilarczyk A, Rosinskan-Borkowska D, Rekawek J, et al. Progeroid syndrome with scleroderma like skin changes associated with homozygous R435C LMNA mutation. Am J Med Genet A. 2009; 149A:2387–2392.
   Web of Science ®Google Scholar
• Shackletton S, Smallwood DT, Clayton P, et al. Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype. J Med Genet. 2005;42:e36.
   Web of Science ®Google Scholar
• DeBusk FL. The Hutchinson-Gilford progeria syndrome: report of 4 cases and review of the literature. J Pediatr. 1972;80:697–724.
   PubMed Web of Science ®Google Scholar
• Badame AJ. Progeria. Arch Dermatol. 1989;125:540–544.
   Google Scholar
• Gordon LB, McCarten KM, Giobbie-Hurder A, et al. Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development. Pediatrics. 2007;120:824–833.
   PubMed Web of Science ®Google Scholar
• Merideth MA, Gordon LB, Clauss S, et al. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med. 2008; 358:592–604.
   PubMed Web of Science ®Google Scholar
• Loucks C, Parboosingh JS, Chong JX, et al. A shared founder mutation underlies restrictive dermopathy in old colony (Dutch-German) Mennonite and Hutterite patients in North America. Am J Med Genet A. 2012;158A:1229–1232.
   Web of Science ®Google Scholar
• Morais P, Magina S, Riberio MC, et al. Restrictive dermopathy – a lethal congenital laminopathy: case report and review of the literature. Eur J Pediatr. 2009;168:1007–1012.
   Web of Science ®Google Scholar
• McKenna T, Rosengardten Y, Viceconte N, Baek JH, Grochova D, Eriksson M. Embryonic expression of the common progeroid lamin A splice mutation arrests postnatal skin development. Aging Cell. 2014;13:292–302.
   PubMed Web of Science ®Google Scholar
• Yang LW, Radebaugh JF, Rubin P, Sensenbrenner JA, Fiorelliu G, McKusick VA. New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys. Birth Defects Org Artic Ser. 1971;7:291–297.
   Google Scholar
• Hoeffel JC, Mainard L, Chastagner P, Hoeffel CC. Mandibulo-acral dysplasia. Skeletal Radiol. 2000;29:668–671.
   Web of Science ®Google Scholar
• Simha V, Agarwal AK, Oral EA, Fryns JP, Garg A. Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia associated lipodystrophy. J Clin Endocrinol Metab. 2003;88:2821–2824.
   PubMed Web of Science ®Google Scholar
• Cefle A, Cefle K. A case of mandibuloacral dysplasia presenting with features of scleroderma. Int J Clin Pract. 2004;58:635–638.
   Web of Science ®Google Scholar
• Novelli G, Muchir A, Sangiuolo F, et al. Mandibuloacral dysplasia is caused by a mutation in LMNA encoding lamin A/C. Am J Hum Genet. 2002;71:426–431.
   PubMed Web of Science ®Google Scholar
• Agarwal AK, Fryns JP, Auchus RJ, Garg A. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet. 2003;12:1995–2001.
   PubMed Web of Science ®Google Scholar
• Jacob KN, Garg A. Laminopathies: multisystem dystrophy syndromes. Mol Genet Metab. 2006;87:289–302.
   Web of Science ®Google Scholar
• Garg A, Subramanyam L, Agarwal AK, et al. Atypical progeroid syndrome due to heterozygous missense LMNA mutations. J Clin Endocrinol Metab. 2009;94:4971–4983.
   PubMed Web of Science ®Google Scholar
• Rankin J, Auer-Grumbach M, Bagg W, et al. Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet A. 2008;146A:1530–1542.
   Web of Science ®Google Scholar
• Zaremba-Czogalla M, Dubinska-Magiera M, Rzepecki R. Laminopathies: the molecular background of the disease and the prospects for its treatment. Cell Mol Biol Lett. 2011;16:114–148.
   PubMed Web of Science ®Google Scholar
• Cenni V, Capanni C, Columbaro M, et al. Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria. Eur J Histochem. 2011;55:e36.
   PubMed Web of Science ®Google Scholar
• Ullrich NJ, Kieran MW, Miller DT, et al. Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment. Neurology. 2013;81:427–430.
   PubMed Web of Science ®Google Scholar
• Wang Y, Ostlund C, Worman HJ. Blocking protein farnesylation improves nuclear shape abnormalities in keratinocytes of mice expressing the prelamin A variant in Hutchinson-Gilford progeria syndrome. Nucleus. 2010;1:432–439.
   PubMed Web of Science ®Google Scholar
• Varela I, Pereira S, Ugalde AP, et al. Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging. Nat Med. 2008;14:767–772.
   PubMed Web of Science ®Google Scholar
• Gordon LB, Kleinman ME, Miller DT, et al. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford Progeria Syndrome. Proc Natl Acad Sci U S A. 2012;109:16666–16671.
   PubMed Web of Science ®Google Scholar
• Gordon LB, Massaro J, D’Agostino RB, et al. Impact of farnesylation inhibitors on survival in Hutchinson-Gilford progeria syndrome. Circulation. 2014;130:27–34.
   PubMed Web of Science ®Google Scholar
• Ibrahim MX, Sayin VI, Akula MK, et al. Targeting isoprenylcysteine methylation ameliorates disease in a mouse model of progeria. Science. 2013;340:1330–1333.
   PubMed Web of Science ®Google Scholar
• Choi JC, Muchir A, Wu W, et al. Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A/C gene mutation. Sci Transl Med. 2012;4:144ra102.
   PubMed Web of Science ®Google Scholar
• Choi JC, Worman HJ. Reactivation of autophagy ameliorates LMNA cardiomyopathy. Autophagy. 2013;9:110–111.
   PubMed Web of Science ®Google Scholar
• Cenni V, Capanni C, Mattioli E, et al. Rapamycin treatment of mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics. Aging (Albany NY). 2014;6:755–770.
   PubMedGoogle Scholar
• Huang S, Chen L, Libina N, et al. Correction of cellular phenotypes of Hutchinson-Gilford progeria cells by RNA interference. Hum Genet. 2005;118:444–450.
   PubMed Web of Science ®Google Scholar
• Scaffidi P, Misteli T. Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome. Nat Med. 2005;11:440–445.
   PubMed Web of Science ®Google Scholar
• Fong LG, Vickers TA, Farber EA, et al. Activating the synthesis of progerin, the mutant prelamin A in Hutchinson-Gilford progeria syndrome, with antisense oligonucleotides. Hum Mol Genet. 2009;18:2462–2471.
   PubMed Web of Science ®Google Scholar
• McClintock D, Gordon LB, Djabali K. Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-lamin A G608G antibody. Proc Natl Acad Sci U S A. 2006; 103:2154–2159.
   PubMed Web of Science ®Google Scholar
• Osorio FG, Navarro CL, Cadiñanos J, et al. Splicing-directed therapy in a new mouse model of human accelerated aging. Sci Transl Med. 2011;3:106ra107.
   PubMed Web of Science ®Google Scholar
• Luo YB, Mitrpant C, Adams AM, et al. Antisense oligonucleotide induction of progerin in human myogenic cells. PLoS One. 2014;9:e98306.
   Web of Science ®Google Scholar
• Anjos-Afonso F, Siapati EK, Bonnet D. In vivo contribution of murine mesenchymal stem cells into multiple cell-types under minimal damage conditions. J Cell Sci. 2004;117:5655–5664.
   PubMed Web of Science ®Google Scholar
• Griffin M, Greiser U, Barry F, O’Brien T, Ritter T. Genetically modified mesenchymal stem cells and their clinical potential in acute cardiovascular disease. Discov Med. 2010;9:219–223.
   Web of Science ®Google Scholar
• Epting CL, López JE, Shen X, Liu L, Bristow J, Bernstein HS. Stem cell antigen-1 is necessary for cell-cycle withdrawal and myoblast differentiation in C2C12 cells. J Cell Sci. 2004;117:6185–6195.
   Web of Science ®Google Scholar
• Rivier F, Alkan O, Flint AF, et al. Role of bone marrow cell trafficking in replenishing skeletal muscle SP and MP cell populations. J Cell Sci. 2004;117:1979–1988.
   PubMed Web of Science ®Google Scholar
• Scharner J, Figeac N, Ellis JA, Zammit PS. Ameliorating pathogenesis by removing an exon containing a missense mutation: a potential exon-skipping therapy for laminopathies. Gene Ther. 2015;22:503–515.
   PubMed Web of Science ®Google Scholar