lamin A/C

Summary

Gene Symbol: lamin A/C
Description: lamin A/C
Alias: CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, MADA, PRO1, lamin, 70 kDa lamin, lamin A/C-like 1, mandibuloacral dysplasia type A, prelamin-A/C, renal carcinoma antigen NY-REN-32
Species: human
Products:     lamin A/C

Top Publications

  1. van Rijsingen I, Arbustini E, Elliott P, Mogensen J, Hermans van Ast J, van der Kooi A, et al. Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study. J Am Coll Cardiol. 2012;59:493-500 pubmed publisher
    The purpose of this study was to determine risk factors that predict malignant ventricular arrhythmias (MVA) in Lamin A/C (LMNA) mutation carriers...
  2. Shumaker D, Dechat T, Kohlmaier A, Adam S, Bozovsky M, Erdos M, et al. Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging. Proc Natl Acad Sci U S A. 2006;103:8703-8 pubmed
    The premature aging disease Hutchinson-Gilford Progeria Syndrome (HGPS) is caused by a mutant lamin A (LADelta50). Nuclei in cells expressing LADelta50 are abnormally shaped and display a loss of heterochromatin...
  3. Motsch I, Kaluarachchi M, Emerson L, Brown C, Brown S, Dabauvalle M, et al. Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy. Eur J Cell Biol. 2005;84:765-81 pubmed
    ..Eight of the mutations when expressed in lamin A, exhibited a range of nuclear mislocalisation patterns...
  4. Le Dour C, Schneebeli S, Bakiri F, Darcel F, Jacquemont M, Maubert M, et al. A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A. J Clin Endocrinol Metab. 2011;96:E856-62 pubmed publisher
  5. Cowan J, Li D, Gonzalez Quintana J, Morales A, Hershberger R. Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Circ Cardiovasc Genet. 2010;3:6-14 pubmed publisher
    ..Confocal immunofluorescence microscopy was used to characterize GFP-lamin A localization and nuclear morphology...
  6. Scharner J, Brown C, Bower M, Iannaccone S, Khatri I, Escolar D, et al. Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. Hum Mutat. 2011;32:152-67 pubmed publisher
    ..EDMD), LMNA-associated congenital muscular dystrophy (L-CMD), and limb-girdle muscular dystrophy type 1B (LGMD1B)...
  7. Reynolds A, Liang L, Baines J. Conformational changes in the nuclear lamina induced by herpes simplex virus type 1 require genes U(L)31 and U(L)34. J Virol. 2004;78:5564-75 pubmed
    ..In this work, we show that whereas the solubility of lamins A and C (lamin A/C) was not markedly increased, HSV induced conformational changes in the nuclear lamina of infected cells, as ..
  8. Capell B, Erdos M, Madigan J, Fiordalisi J, Varga R, Conneely K, et al. Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A. 2005;102:12879-84 pubmed
    ..HGPS is almost always caused by a de novo point mutation in the lamin A gene (LMNA) that activates a cryptic splice donor site, producing a truncated mutant protein termed "..
  9. Ragnauth C, Warren D, Liu Y, McNair R, Tajsic T, Figg N, et al. Prelamin A acts to accelerate smooth muscle cell senescence and is a novel biomarker of human vascular aging. Circulation. 2010;121:2200-10 pubmed publisher
    ..is a rare inherited disorder of premature aging caused by mutations in LMNA or Zmpste24 that disrupt nuclear lamin A processing, leading to the accumulation of prelamin A...

More Information

Publications113 found, 100 shown here

  1. Cao K, Blair C, Faddah D, Kieckhaefer J, Olive M, Erdos M, et al. Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts. J Clin Invest. 2011;121:2833-44 pubmed publisher
    ..progeria syndrome (HGPS), a devastating premature aging disease, is caused by a point mutation in the lamin A gene (LMNA)...
  2. Bertacchini J, Beretti F, Cenni V, Guida M, Gibellini F, Mediani L, et al. The protein kinase Akt/PKB regulates both prelamin A degradation and Lmna gene expression. FASEB J. 2013;27:2145-55 pubmed publisher
    ..The Lmna gene products lamin A/C and the lamin A precursor prelamin A are type V intermediate filament proteins forming a filamentous meshwork, ..
  3. Capanni C, Cenni V, Mattioli E, Sabatelli P, Ognibene A, Columbaro M, et al. Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription. Exp Cell Res. 2003;291:122-34 pubmed
    ..In this study, we analyzed primary fibroblast cultures from a patient carrying an R482L lamin A/C mutation by a morphological and biochemical approach...
  4. Zhang Q, Ragnauth C, Skepper J, Worth N, Warren D, Roberts R, et al. Nesprin-2 is a multi-isomeric protein that binds lamin and emerin at the nuclear envelope and forms a subcellular network in skeletal muscle. J Cell Sci. 2005;118:673-87 pubmed
    ..The smaller isoforms of nesprin-2 co-localize with and bind lamin A and emerin at the inner nuclear envelope (NE)...
  5. González J, Navarro Puche A, Casar B, Crespo P, Andres V. Fast regulation of AP-1 activity through interaction of lamin A/C, ERK1/2, and c-Fos at the nuclear envelope. J Cell Biol. 2008;183:653-66 pubmed publisher
    ..show here that c-Fos accumulation within the extraction-resistant nuclear fraction (ERNF) and its interaction with lamin A are reduced and enhanced by gain-of and loss-of ERK1/2 activity, respectively...
  6. Maraldi N, Capanni C, Cenni V, Fini M, Lattanzi G. Laminopathies and lamin-associated signaling pathways. J Cell Biochem. 2011;112:979-92 pubmed publisher
    ..The majority of laminopathies are caused by mutations in the LMNA gene, encoding lamin A/C, but manifest as diverse pathologies including muscular dystrophy, lipodystrophy, neuropathy, and progeroid ..
  7. Kelley J, Datta S, Snow C, Chatterjee M, Ni L, Spencer A, et al. The defective nuclear lamina in Hutchinson-gilford progeria syndrome disrupts the nucleocytoplasmic Ran gradient and inhibits nuclear localization of Ubc9. Mol Cell Biol. 2011;31:3378-95 pubmed publisher
    The mutant form of lamin A responsible for the premature aging disease Hutchinson-Gilford progeria syndrome (termed progerin) acts as a dominant negative protein that changes the structure of the nuclear lamina...
  8. Goldman R, Shumaker D, Erdos M, Eriksson M, Goldman A, Gordon L, et al. Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A. 2004;101:8963-8 pubmed
    ..progeria syndrome (HGPS) is a premature aging disorder, commonly caused by a point mutation in the lamin A gene that results in a protein lacking 50 aa near the C terminus, denoted LADelta50...
  9. Rudenskaya G, Polyakov A, Tverskaya S, Zaklyazminskaya E, Chukhrova A, Groznova O, et al. Laminopathies in Russian families. Clin Genet. 2008;74:127-33 pubmed publisher
    ..Atypical clinical presentations were a very severe EDMD and an infantile DCM1A. ..
  10. Rodriguez S, Coppede F, Sagelius H, Eriksson M. Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging. Eur J Hum Genet. 2009;17:928-37 pubmed publisher
    ..This mutation leads to the increased usage of an internal splice site that generates an alternative lamin A transcript with an internal deletion of 150 nucleotides, called lamin A Delta 150...
  11. Dechat T, Shimi T, Adam S, Rusinol A, Andres D, Spielmann H, et al. Alterations in mitosis and cell cycle progression caused by a mutant lamin A known to accelerate human aging. Proc Natl Acad Sci U S A. 2007;104:4955-60 pubmed
    Mutations in the gene encoding nuclear lamin A (LA) cause the premature aging disease Hutchinson-Gilford Progeria Syndrome...
  12. Hausmanowa Petrusewicz I, Madej Pilarczyk A, Marchel M, Opolski G. Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest. Neurol Neurochir Pol. 2009;43:415-20 pubmed
    ..This may indicate that an Emery-Dreifuss-like dystrophy could also be associated with mutations in other genes. ..
  13. Dittmer T, Sahni N, Kubben N, Hill D, Vidal M, Burgess R, et al. Systematic identification of pathological lamin A interactors. Mol Biol Cell. 2014;25:1493-510 pubmed publisher
    ..caused by >300 distinct mutations in the LMNA gene, which encodes the nuclear intermediate filament proteins lamin A and C, two major architectural elements of the mammalian cell nucleus...
  14. Chen L, Lee L, Kudlow B, Dos Santos H, Sletvold O, Shafeghati Y, et al. LMNA mutations in atypical Werner's syndrome. Lancet. 2003;362:440-5 pubmed
    ..Some features of this disorder are also present in laminopathies caused by mutant LMNA encoding nuclear lamin A/C. Because of this similarity, we sequenced LMNA in individuals with atypical Werner's syndrome (wild-type WRN)...
  15. Schmidt E, Nilsson O, Koskela A, Tuukkanen J, Ohlsson C, Rozell B, et al. Expression of the Hutchinson-Gilford progeria mutation during osteoblast development results in loss of osteocytes, irregular mineralization, and poor biomechanical properties. J Biol Chem. 2012;287:33512-22 pubmed
    Hutchinson-Gilford progeria syndrome (HGPS) is a very rare genetic disorder that is characterized by multiple features of premature aging and largely affects tissues of mesenchymal origin...
  16. Kandert S, Lüke Y, Kleinhenz T, Neumann S, Lu W, Jaeger V, et al. Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells. Hum Mol Genet. 2007;16:2944-59 pubmed
    The S143F lamin A/C point mutation causes a phenotype combining features of myopathy and progeria...
  17. Barrowman J, Hamblet C, George C, Michaelis S. Analysis of prelamin A biogenesis reveals the nucleus to be a CaaX processing compartment. Mol Biol Cell. 2008;19:5398-408 pubmed publisher
    ..The enzymes involved in the maturation of lamin A present a challenge to this paradigm...
  18. Harper M, Tillit J, Kress M, Ernoult Lange M. Phosphorylation-dependent binding of human transcription factor MOK2 to lamin A/C. FEBS J. 2009;276:3137-47 pubmed publisher
    Human MOK2 is a DNA-binding transcriptional repressor. Previously, we identified nuclear lamin A/C proteins as protein partners of hsMOK2. Furthermore, we found that a fraction of hsMOK2 protein was associated with the nuclear matrix...
  19. Lussi Y, H gi I, Laurell E, Kutay U, Fahrenkrog B. The nucleoporin Nup88 is interacting with nuclear lamin A. Mol Biol Cell. 2011;22:1080-90 pubmed publisher
    ..In this work we show that the nuclear pore protein Nup88 binds lamin A in vitro and in vivo...
  20. Saj M, Dabrowski R, Labib S, Jankowska A, Szperl M, Broda G, et al. Variants of the lamin A/C (LMNA) gene in non-valvular atrial fibrillation patients: a possible pathogenic role of the Thr528Met mutation. Mol Diagn Ther. 2012;16:99-107 pubmed publisher
    b>Lamin A/C (LMNA) gene mutations cause dilated cardiomyopathy, often accompanied by conduction disturbances. Our aim was to search for LMNA mutations in individuals with atrial fibrillation...
  21. Botto N, Vittorini S, Colombo M, Biagini A, Paradossi U, Aquaro G, et al. A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report. Cardiovasc Ultrasound. 2010;8:9 pubmed publisher
    ..Genetic screening of lamin A/C gene revealed in proband the presence of a novel missense mutation (R189W), near the most prevalent lamin A/C ..
  22. Caron M, Auclair M, Donadille B, Bereziat V, Guerci B, Laville M, et al. Human lipodystrophies linked to mutations in A-type lamins and to HIV protease inhibitor therapy are both associated with prelamin A accumulation, oxidative stress and premature cellular senescence. Cell Death Differ. 2007;14:1759-67 pubmed
    ..As genetically altered lamin A maturation also results in premature ageing syndromes with lipodystrophy, we studied prelamin A expression and ..
  23. Swift J, Ivanovska I, Buxboim A, Harada T, Dingal P, Pinter J, et al. Nuclear lamin-A scales with tissue stiffness and enhances matrix-directed differentiation. Science. 2013;341:1240104 pubmed publisher
    ..Here, proteomics analyses revealed that levels of the nucleoskeletal protein lamin-A scaled with tissue elasticity, E, as did levels of collagens in the extracellular matrix that determine E...
  24. Małek L, Labib S, Mazurkiewicz L, Saj M, Płoski R, Tesson F, et al. A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation. J Hum Genet. 2011;56:83-6 pubmed publisher
    Mutations in the lamin A/C gene (LMNA) are established causes of familial dilated cardiomyopathy (DCM) with atrio-ventricular block although relatively little is known about genotype-phenotype correlations...
  25. Duband Goulet I, Woerner S, Gasparini S, Attanda W, Kondé E, Tellier Lebegue C, et al. Subcellular localization of SREBP1 depends on its interaction with the C-terminal region of wild-type and disease related A-type lamins. Exp Cell Res. 2011;317:2800-13 pubmed publisher
    ..Previous data suggested that prelamin A, the lamin A precursor, accumulates in some lipodystrophy syndromes caused by mutations in the lamin A/C gene, and binds and ..
  26. Hermida Prieto M, Monserrat L, Castro Beiras A, Laredo R, Soler R, Peteiro J, et al. Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. Am J Cardiol. 2004;94:50-4 pubmed
    ..LMNA mutations should be considered in the genetic screening of patients with familial DC without conduction system disease. Isolated left ventricular noncompaction may be part of the phenotypic spectrum of the laminopathies. ..
  27. Scaffidi P, Misteli T. Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing. Nat Cell Biol. 2008;10:452-9 pubmed publisher
    ..HGPS) is caused by constitutive production of progerin, a mutant form of the nuclear architectural protein lamin A. Progerin is also expressed sporadically in wild-type cells and has been linked to physiological ageing...
  28. Bruston F, Delbarre E, Ostlund C, Worman H, Buendia B, Duband Goulet I. Loss of a DNA binding site within the tail of prelamin A contributes to altered heterochromatin anchorage by progerin. FEBS Lett. 2010;584:2999-3004 pubmed publisher
    Mutations in the lamin A/C (LMNA) gene that cause Hutchinson-Gilford progeria syndrome (HGPS) lead to expression of a protein called progerin with 50 amino acids deleted from the tail of prelamin A...
  29. Taranum S, Vaylann E, Meinke P, Abraham S, Yang L, Neumann S, et al. LINC complex alterations in DMD and EDMD/CMT fibroblasts. Eur J Cell Biol. 2012;91:614-28 pubmed publisher
    ..Our results point to a potential influence of mutations in components of the LINC complex on the clinical outcome and the molecular pathology in the patients. ..
  30. Kapinos L, Schumacher J, Mücke N, Machaidze G, Burkhard P, Aebi U, et al. Characterization of the head-to-tail overlap complexes formed by human lamin A, B1 and B2 "half-minilamin" dimers. J Mol Biol. 2010;396:719-31 pubmed publisher
    ..mode of interaction represents an essential step in the longitudinal assembly reaction exhibited by full-length lamin dimers...
  31. Simon D, Zastrow M, Wilson K. Direct actin binding to A- and B-type lamin tails and actin filament bundling by the lamin A tail. Nucleus. 2010;1:264-72 pubmed publisher
    ..This interaction maps to a conserved Actin Binding site (AB-1) comprising lamin A residues 461-536 in the Ig-fold domain, which are 54% identical in lamin B1...
  32. Sebillon P, Bouchier C, Bidot L, Bonne G, Ahamed K, Charron P, et al. Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. J Med Genet. 2003;40:560-7 pubmed
    Mutations in the lamin A/C gene (LMNA) have been reported to be involved in dilated cardiomyopathy (DCM) associated with conduction system disease and/or skeletal myopathy...
  33. Dreuillet C, Harper M, Tillit J, Kress M, Ernoult Lange M. Mislocalization of human transcription factor MOK2 in the presence of pathogenic mutations of lamin A/C. Biol Cell. 2008;100:51-61 pubmed
    ..Previous studies have shown an interaction between hsMOK2 and nuclear lamin A/C. This interaction could be important to explain hsMOK2 ability to repress transcription...
  34. Carboni N, Sardu C, Cocco E, Marrosu G, Manzi R, Nissardi V, et al. Cardiac involvement in patients with lamin A/C gene mutations: a cohort observation. Muscle Nerve. 2012;46:187-92 pubmed publisher
    ..Cardiac involvement represents a very common phenotypic expression of LMNA gene mutation. Subjects sharing common genetic background seem to suffer from analogue pattern of cardiac manifestation. ..
  35. Al Saaidi R, Rasmussen T, Palmfeldt J, Nissen P, Beqqali A, Hansen J, et al. The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins. Exp Cell Res. 2013;319:3010-9 pubmed publisher
    ..The LMNA gene generates two major transcripts encoding the nuclear lamina major components lamin A and lamin C by alternative splicing...
  36. Hubner S, Eam J, Hubner A, Jans D. Laminopathy-inducing lamin A mutants can induce redistribution of lamin binding proteins into nuclear aggregates. Exp Cell Res. 2006;312:171-83 pubmed
    ..Mutations within the A-type lamin gene cause a variety of degenerative diseases which are collectively referred to as laminopathies...
  37. Manju K, Muralikrishna B, Parnaik V. Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci. J Cell Sci. 2006;119:2704-14 pubmed
    A-type lamins are components of the nuclear lamina. Mutations in the gene encoding lamin A are associated with a range of highly degenerative diseases termed laminopathies...
  38. Decaudain A, Vantyghem M, Guerci B, Hecart A, Auclair M, Reznik Y, et al. New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. J Clin Endocrinol Metab. 2007;92:4835-44 pubmed
    ..Dual-energy x-ray absorptiometry and/or cross-sectional abdominal and thigh imaging can help diagnosis by revealing subclinical lipodystrophy. The prevalence and pathophysiology of metabolic laminopathies need to be studied further. ..
  39. Ruiz de Eguino G, Infante A, Schlangen K, Aransay A, Fullaondo A, Soriano M, et al. Sp1 transcription factor interaction with accumulated prelamin a impairs adipose lineage differentiation in human mesenchymal stem cells: essential role of sp1 in the integrity of lipid vesicles. Stem Cells Transl Med. 2012;1:309-21 pubmed publisher
    b>Lamin A (LMNA)-linked lipodystrophies may be either genetic (associated with LMNA mutations) or acquired (associated with the use of human immunodeficiency virus protease inhibitors [PIs]), and in both cases they share clinical features ..
  40. Frock R, Kudlow B, Evans A, Jameson S, Hauschka S, Kennedy B. Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation. Genes Dev. 2006;20:486-500 pubmed
    ..with multiple tissue-specific diseases, including Emery-Dreifuss (EDMD2/3) and Limb-Girdle muscular dystrophy (LGMD1B). X-linked EDMD results from mutations in emerin, a lamin A-associated protein...
  41. Mattioli E, Columbaro M, Capanni C, Santi S, Maraldi N, D Apice M, et al. Drugs affecting prelamin A processing: effects on heterochromatin organization. Exp Cell Res. 2008;314:453-62 pubmed
    ..farnesylation causing accumulation of non-farnesylated prelamin A, while AFCMe impairs the last cleavage of the lamin A precursor and is expected to accumulate farnesylated prelamin A...
  42. Parks S, Kushner J, Nauman D, Burgess D, Ludwigsen S, Peterson A, et al. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am Heart J. 2008;156:161-9 pubmed publisher
    b>Lamin A/C mutations are a well-established cause of dilated cardiomyopathy (DCM), although their frequency has not been examined in a large cohort of patients...
  43. Muchir A, Medioni J, Laluc M, Massart C, Arimura T, van der Kooi A, et al. Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. Muscle Nerve. 2004;30:444-50 pubmed
    ..Western-blotting showed that none of the mutations examined led to a decrease in cellular levels of lamin A or C...
  44. Strelkov S, Schumacher J, Burkhard P, Aebi U, Herrmann H. Crystal structure of the human lamin A coil 2B dimer: implications for the head-to-tail association of nuclear lamins. J Mol Biol. 2004;343:1067-80 pubmed
    ..In man, three types of lamins with significant sequence identity, i.e. lamin A/C, lamin B1 and B2, are expressed...
  45. Walter M, Witt T, Weigel B, Reilich P, Richard P, Pongratz D, et al. Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy. Neuromuscul Disord. 2005;15:40-4 pubmed
    ..Thus, the mutation with this unique phenotypical expression represents the first example for a link between the neurogenic and myogenic phenotypes and extends the clinical variability of laminopathies...
  46. Broers J, Kuijpers H, Ostlund C, Worman H, Endert J, Ramaekers F. Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization. Exp Cell Res. 2005;304:582-92 pubmed
    ..of intensity after photobleaching (FLIP) technique to study the molecular dynamics and organization of nuclear lamin proteins in cell lines stably transfected with green fluorescent protein (GFP)-tagged A-type lamin cDNA...
  47. Paradisi M, McClintock D, Boguslavsky R, Pedicelli C, Worman H, Djabali K. Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress. BMC Cell Biol. 2005;6:27 pubmed
    ..Dermal fibroblasts from a subject with HGPS expressing a mutant truncated lamin A have dysmorphic nuclei, hypersensitivity to heat shock, and delayed response to heat stress...
  48. Ivorra C, Kubicek M, Gonzalez J, Sanz González S, Alvarez Barrientos A, O Connor J, et al. A mechanism of AP-1 suppression through interaction of c-Fos with lamin A/C. Genes Dev. 2006;20:307-20 pubmed
    ..e., Fos/Jun). Here we show that the intermediate filament protein lamin A/C suppresses AP-1 function through direct interaction with c-Fos, and that both proteins can interact and ..
  49. McClintock D, Gordon L, 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;103:2154-9 pubmed
    ..In this article, we present evidence that the mutant lamin A (progerin) accumulates in the nucleus in a cellular age-dependent manner...
  50. Young S, Meta M, Yang S, Fong L. Prelamin A farnesylation and progeroid syndromes. J Biol Chem. 2006;281:39741-5 pubmed
    ..that leads to the synthesis of a mutant prelamin A that is farnesylated but cannot be further processed to mature lamin A...
  51. Cao K, Capell B, Erdos M, Djabali K, Collins F. A lamin A protein isoform overexpressed in Hutchinson-Gilford progeria syndrome interferes with mitosis in progeria and normal cells. Proc Natl Acad Sci U S A. 2007;104:4949-54 pubmed
    ..exon 11 (residue 1824, C --> T) of the LMNA gene, activating a cryptic splice donor and resulting in a mutant lamin A (LA) protein termed "progerin/LADelta50" that lacks the normal cleavage site to remove a C-terminal ..
  52. Kudlow B, Stanfel M, Burtner C, Johnston E, Kennedy B. Suppression of proliferative defects associated with processing-defective lamin A mutants by hTERT or inactivation of p53. Mol Biol Cell. 2008;19:5238-48 pubmed publisher
    ..Here, we stably expressed lamin A mutants, including progerin, in otherwise identical primary human fibroblasts to compare the effects of ..
  53. Brauch K, Chen L, Olson T. Comprehensive mutation scanning of LMNA in 268 patients with lone atrial fibrillation. Am J Cardiol. 2009;103:1426-8 pubmed publisher
    ..LMNA, encoding the nuclear membrane proteins, lamin A/C, was selected as a candidate gene for lone AF based on its established association with a syndrome of dilated ..
  54. De Vos W, Houben F, Hoebe R, Hennekam R, van Engelen B, Manders E, et al. Increased plasticity of the nuclear envelope and hypermobility of telomeres due to the loss of A-type lamins. Biochim Biophys Acta. 2010;1800:448-58 pubmed publisher
    ..On the cellular level, lamin mutations affect the physical integrity of nuclei and nucleo-cytoskeletal interactions, resulting in increased ..
  55. Capo Chichi C, Cai K, Simpkins F, Ganjei Azar P, Godwin A, Xu X. Nuclear envelope structural defects cause chromosomal numerical instability and aneuploidy in ovarian cancer. BMC Med. 2011;9:28 pubmed publisher
    ..Another common characteristic of human cancer is aneuploidy, but the causes and its role in carcinogenesis are not well established...
  56. Lopez Mejia I, Vautrot V, de Toledo M, Behm Ansmant I, Bourgeois C, Navarro C, et al. A conserved splicing mechanism of the LMNA gene controls premature aging. Hum Mol Genet. 2011;20:4540-55 pubmed publisher
    ..including serine-arginine rich splicing factor 1 (SRSF1) and SRSF6, on utilization of the 5'SS leading to lamin A or progerin production and a modulation of this regulation in the presence of the c...
  57. Muchir A, van Engelen B, Lammens M, Mislow J, McNally E, Schwartz K, et al. Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene. Exp Cell Res. 2003;291:352-62 pubmed
    ..Transfection of wild-type lamin A or C cDNAs restored the correct localization of both emerin and nesprin-1alpha...
  58. Yusufzai T, Tagami H, Nakatani Y, Felsenfeld G. CTCF tethers an insulator to subnuclear sites, suggesting shared insulator mechanisms across species. Mol Cell. 2004;13:291-8 pubmed
    ..These interactions, quite different from those of the gypsy insulator element in Drosophila, may generate similar loop structures, suggesting a common theme and model for enhancer-blocking insulator action. ..
  59. Savage D, Soos M, Powlson A, O Rahilly S, McFarlane I, Halsall D, et al. Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene. Diabetologia. 2004;47:753-6 pubmed
  60. Navarro C, De Sandre Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, et al. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet. 2004;13:2493-503 pubmed
    ..splicing mutation in the LMNA gene, leading to the complete or partial loss of exon 11 in mRNAs encoding Lamin A and resulting in a truncated Prelamin A protein...
  61. Constantinescu D, Gray H, Sammak P, Schatten G, Csoka A. Lamin A/C expression is a marker of mouse and human embryonic stem cell differentiation. Stem Cells. 2006;24:177-85 pubmed
    ..Previous studies have shown that lamin A/C is not expressed during mouse development before day 9, nor in undifferentiated mouse embryonic carcinoma ..
  62. Lee S, Chan J, Clement M, Pervaiz S. Functional proteomics of resveratrol-induced colon cancer cell apoptosis: caspase-6-mediated cleavage of lamin A is a major signaling loop. Proteomics. 2006;6:2386-94 pubmed
    ..Using Bax+/- cells as a model, proteomic analysis revealed four RSV-responsive events: fragmentation of lamin A/C protein; increase in concentration of a more basic isoelectric variant of the ribosomal protein P0; and ..
  63. Halaschek Wiener J, Brooks Wilson A. Progeria of stem cells: stem cell exhaustion in Hutchinson-Gilford progeria syndrome. J Gerontol A Biol Sci Med Sci. 2007;62:3-8 pubmed
    ..The major causal mutation associated with HGPS triggers abnormal messenger RNA splicing of the lamin A gene leading to changes in the nuclear architecture...
  64. Willis N, Cox T, Rahman Casañs S, Smits K, Przyborski S, van den Brandt P, et al. Lamin A/C is a risk biomarker in colorectal cancer. PLoS ONE. 2008;3:e2988 pubmed publisher
    ..Using CRC cell lines we investigated the effects of lamin A expression on other genes by RT-PCR; on cell growth by FACS analysis; and on invasiveness by cell migration ..
  65. Perrot A, Hussein S, Ruppert V, Schmidt H, Wehnert M, Duong N, et al. Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. Basic Res Cardiol. 2009;104:90-9 pubmed publisher
    ..LMNA, encoding the nuclear membrane protein lamin A/C, is one of the most important disease gene for that disease...
  66. Pasotti M, Klersy C, Pilotto A, Marziliano N, Rapezzi C, Serio A, et al. Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol. 2008;52:1250-60 pubmed publisher
    The aim of this study was to analyze the long-term follow-up of dilated cardiolaminopathies. Lamin A/C (LMNA) gene mutations cause a variety of phenotypes...
  67. Mejat A, Decostre V, Li J, Renou L, Kesari A, Hantai D, et al. Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy. J Cell Biol. 2009;184:31-44 pubmed publisher
    ..These results suggest that lamin A/C-mediated NMJ defects contribute to the AD-EDMD disease phenotype and provide insights into the cellular and ..
  68. Tilgner K, Wojciechowicz K, Jahoda C, Hutchison C, Markiewicz E. Dynamic complexes of A-type lamins and emerin influence adipogenic capacity of the cell via nucleocytoplasmic distribution of beta-catenin. J Cell Sci. 2009;122:401-13 pubmed publisher
    ..which are emerin null, demonstrated increased nuclear accumulation of stable beta-catenin and constant lamin expression...
  69. Malhotra R, Mason P. Lamin A/C deficiency as a cause of familial dilated cardiomyopathy. Curr Opin Cardiol. 2009;24:203-8 pubmed publisher
    Familial dilated cardiomyopathy is an underrecognized form of dilated cardiomyopathy. Lamin A/C deficiency is probably the most common cause of familial dilated cardiomyopathy...
  70. CANDELARIO J, Borrego S, Reddy S, Comai L. Accumulation of distinct prelamin A variants in human diploid fibroblasts differentially affects cell homeostasis. Exp Cell Res. 2011;317:319-29 pubmed publisher
    b>Lamin A is a component of the nuclear lamina that plays a major role in the structural organization and function of the nucleus...
  71. Marsman R, Bardai A, Postma A, Res J, Koopmann T, Beekman L, et al. A complex double deletion in LMNA underlies progressive cardiac conduction disease, atrial arrhythmias, and sudden death. Circ Cardiovasc Genet. 2011;4:280-7 pubmed publisher
    ..ligation-dependent probe amplification analysis of the LMNA gene, which encodes the nuclear-envelope protein lamin A/C, revealed a novel gene rearrangement involving a 24-bp inversion flanked by a 3.8-kb deletion upstream and a 7...
  72. Miller J, Ganat Y, Kishinevsky S, Bowman R, Liu B, Tu E, et al. Human iPSC-based modeling of late-onset disease via progerin-induced aging. Cell Stem Cell. 2013;13:691-705 pubmed publisher
    ..Our approach involves expression of progerin, a truncated form of lamin A associated with premature aging...
  73. MacLeod H, Culley M, Huber J, McNally E. Lamin A/C truncation in dilated cardiomyopathy with conduction disease. BMC Med Genet. 2003;4:4 pubmed
    Mutations in the gene encoding the nuclear membrane protein lamin A/C have been associated with at least 7 distinct diseases including autosomal dominant dilated cardiomyopathy with conduction system disease, autosomal dominant and ..
  74. van Berlo J, de Voogt W, van der Kooi A, van Tintelen J, Bonne G, Yaou R, 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
    This study evaluated common clinical characteristics of patients with lamin A/C gene mutations that cause either isolated dilated cardiomyopathy or dilated cardiomyopathy in association with skeletal muscular dystrophy...
  75. Sylvius N, Bilinska Z, Veinot J, Fidzianska A, Bolongo P, Poon S, et al. In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. J Med Genet. 2005;42:639-47 pubmed
    b>Lamin A/C (LMNA) gene variations have been reported in more than one third of genotyped families with dilated cardiomyopathy (DCM). However, the relationship between LMNA mutation and the development of DCM is poorly understood...
  76. Glynn M, Glover T. Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition. Hum Mol Genet. 2005;14:2959-69 pubmed
    ..of the LMNA gene, which activates a cryptic splice site resulting in the in-frame loss of 150 nucleotides from the lamin A message...
  77. Zhong N, Radu G, Ju W, Brown W. Novel progerin-interactive partner proteins hnRNP E1, EGF, Mel 18, and UBC9 interact with lamin A/C. Biochem Biophys Res Commun. 2005;338:855-61 pubmed
    ..as one of a growing group of disorders known as laminopathies, which result from genetic defects of the lamin A/C (LMNA) gene. The majority of HGPS mutant alleles involve a silent mutation, c...
  78. McClintock D, Ratner D, Lokuge M, Owens D, Gordon L, Collins F, et al. The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin. PLoS ONE. 2007;2:e1269 pubmed
    ..within exon 11 of LMNA, activating a splice donor site that results in production of a dominant negative form of lamin A protein, denoted progerin...
  79. Rankin J, Auer Grumbach M, Bagg W, Colclough K, Nguyen T, Fenton May J, et al. Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet A. 2008;146A:1530-42 pubmed publisher
    ..This report provides further evidence of the extreme phenotypic diversity and low penetrance associated with the R644C mutation. Possible explanations for these observations are discussed. ..
  80. Sylvius N, Hathaway A, Boudreau E, Gupta P, Labib S, Bolongo P, et al. Specific contribution of lamin A and lamin C in the development of laminopathies. Exp Cell Res. 2008;314:2362-75 pubmed publisher
    Mutations in the lamin A/C gene are involved in multiple human disorders for which the pathophysiological mechanisms are partially understood...
  81. Zhang Y, Sarge K. Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies. J Cell Biol. 2008;182:35-9 pubmed publisher
    b>Lamin A mutations cause many diseases, including cardiomyopathies and Progeria Syndrome. The covalent attachment of small ubiquitin-like modifier (SUMO) polypeptides regulates the function of many proteins...
  82. Han X, Feng X, Rattner J, Smith H, Bose P, Suzuki K, et al. Tethering by lamin A stabilizes and targets the ING1 tumour suppressor. Nat Cell Biol. 2008;10:1333-40 pubmed publisher
    ..Here we identify a lamin interaction domain (LID) found only in ING proteins, through which they bind to and colocalize with lamin A...
  83. Shimi T, Pfleghaar K, Kojima S, Pack C, Solovei I, Goldman A, et al. The A- and B-type nuclear lamin networks: microdomains involved in chromatin organization and transcription. Genes Dev. 2008;22:3409-21 pubmed publisher
    ..However, the mechanisms responsible for these lamin functions are poorly understood...
  84. Wu Z, Wu L, Weng D, Xu D, Geng J, Zhao F. Reduced expression of lamin A/C correlates with poor histological differentiation and prognosis in primary gastric carcinoma. J Exp Clin Cancer Res. 2009;28:8 pubmed publisher
    b>Lamin A/C is very important in DNA replication, RNA dependent transcription and nuclear stabilization. Reduced or absent lamin A/C expression has been found to be a common feature of a variety of different cancers...
  85. Kandert S, Wehnert M, Muller C, Buendia B, Dabauvalle M. Impaired nuclear functions lead to increased senescence and inefficient differentiation in human myoblasts with a dominant p.R545C mutation in the LMNA gene. Eur J Cell Biol. 2009;88:593-608 pubmed publisher
    ..R545C) in the carboxy-terminal domain of the lamin A/C gene...
  86. Galisson F, Mahrouche L, Courcelles M, Bonneil E, Meloche S, Chelbi Alix M, et al. A novel proteomics approach to identify SUMOylated proteins and their modification sites in human cells. Mol Cell Proteomics. 2011;10:M110.004796 pubmed publisher
  87. Dutour A, Roll P, Gaborit B, Courrier S, Alessi M, Tregouet D, et al. High prevalence of laminopathies among patients with metabolic syndrome. Hum Mol Genet. 2011;20:3779-86 pubmed publisher
    ..Nuclear shape and lamin A nucleoplasmic distribution abnormalities were systematically searched in lymphoblastoid cells of 87 consecutive ..
  88. Luo Y, Mitrpant C, Johnsen R, Fabian V, Needham M, Fletcher S, et al. Investigation of splicing changes and post-translational processing of LMNA in sporadic inclusion body myositis. Int J Clin Exp Pathol. 2013;6:1723-33 pubmed
    ..LMNA encodes the nuclear lamina proteins lamin A/C through alternative splicing, and aberrant splicing of exon 11 leads to the premature ageing disease, ..
  89. Kochin V, Shimi T, Torvaldson E, Adam S, Goldman A, Pack C, et al. Interphase phosphorylation of lamin A. J Cell Sci. 2014;127:2683-96 pubmed publisher
    ..Loss of nuclear structural integrity has been implicated as a key factor in the lamin A/C gene mutations that cause laminopathies, whereas the normal regulation of lamin A assembly and organization in ..
  90. Zastrow M, Flaherty D, Benian G, Wilson K. Nuclear titin interacts with A- and B-type lamins in vitro and in vivo. J Cell Sci. 2006;119:239-49 pubmed
    ..To identify new binding partners for lamin A, we carried out a two-hybrid screen with a human skeletal-muscle cDNA library, using the Ig-fold domain of lamin ..
  91. Scaffidi P, Misteli T. Lamin A-dependent nuclear defects in human aging. Science. 2006;312:1059-63 pubmed
    Mutations in the nuclear structural protein lamin A cause the premature aging syndrome Hutchinson-Gilford progeria (HGPS). Whether lamin A plays any role in normal aging is unknown...
  92. Wang Y, Herron A, Worman H. Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy. Hum Mol Genet. 2006;15:2479-89 pubmed
    ..Overexpression of lamin A mutants that cause cardiomyopathy in cultured cells induces morphological abnormalities in the nuclear envelope ..