Access the full text.
Sign up today, get DeepDyve free for 14 days.
Loading next page...
/lp/springer-journals/inner-nuclear-membrane-proteins-impact-on-human-disease-G4qZcLHIdl
References (174)
-
J Kirschner, T Brune, M Wehnert, J Denecke, C Wasner, A Feuer (2005)
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeriaAnn Neurol, 57
-
T Sullivan, D Escalante-Alcalde, H Bhatt, M Anver, N Bhat, K Nagashima (1999)
Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophyJ Cell Biol, 147
-
D Pan, LD Estévez-Salmerón, SL Stroschein, X Zhu, J He, S Zhou (2005)
The integral inner nuclear membrane protein MAN1 physically interacts with the R-Smad proteins to repress signaling by the transforming growth factor-{beta} superfamily of cytokinesJ Biol Chem, 280
-
AK Agarwal, JP Fryns, RJ Auchus, A Garg (2003)
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasiaHum Mol Genet, 12
-
S Bione, E Maestrini, S Rivella, M Mancini, S Regis, G Romeo (1994)
Identification of a novel X-linked gene responsible for Emery–Dreifuss muscular dystrophyNat Genet, 8
-
RA Speckman, A Garg, F Du, L Bennett, R Veile, E Arioglu (2000)
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/CAm J Hum Genet, 66
-
RA Hegele, H Cao, DM Liu, GA Costain, V Charlton-Menys, NW Rodger (2006)
Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophyAm J Hum Genet, 79
-
KL Wilson, R Foisner (2010)
Lamin-binding proteinsCold Spring Harb Perspect Biol, 2
-
Q Ye, HJ Worman (1994)
Primary structure analysis and lamin B and DNA binding of human LBR, an integral protein of the nuclear envelope inner membraneJ Biol Chem, 269
-
TA Dittmer, T Misteli (2011)
The lamin protein familyGenome Biol, 12
-
MA Merideth, LB Gordon, S Clauss, V Sachdev, AC Smith, MB Perry (2008)
Phenotype and course of Hutchinson–Gilford progeria syndromeN Engl J Med, 358
-
N Nakajima, K Abe (1995)
Genomic structure of the mouse A-type lamin gene locus encoding somatic and germ cell-specific laminsFEBS Lett, 365
-
P Taimen, K Pfleghaar, T Shimi, D Möller, K Ben-Harush, MR Erdos (2009)
A progeria mutation reveals functions for lamin A in nuclear assembly, architecture, and chromosome organizationProc Natl Acad Sci USA, 106
-
A Vaughan, M Alvarez-Reyes, JM Bridger, JL Broers, FC Ramaekers, M Wehnert (2001)
Both emerin and lamin C depend on lamin A for localization at the nuclear envelopeJ Cell Sci, 114
-
SH Yang, SY Chang, S Ren, Y Wang, DA Andres, HP Spielmann (2011)
Absence of progeria-like disease phenotypes in knock-in mice expressing a non-farnesylated version of progerinHum Mol Genet, 20
-
QS Padiath, K Saigoh, R Schiffmann, H Asahara, T Yamada, A Koeppen (2006)
Lamin B1 duplications cause autosomal dominant leukodystrophyNat Genet, 38
-
C Stewart, B Burke (1987)
Teratocarcinoma stem cells and early mouse embryos contain only a single major lamin polypeptide closely resembling lamin BCell, 51
-
MN Guilly, A Bensussan, JF Bourge, M Bornens, JC Courvalin (1987)
A human T lymphoblastic cell line lacks lamins A and CEMBO J, 6
-
F Lin, DL Blake, I Callebaut, IS Skerjanc, L Holmer, MW McBurney (2000)
MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerinJ Biol Chem, 275
-
G Novelli, A Muchir, F Sangiuolo, A Helbling-Leclerc, MR D’Apice, C Massart (2002)
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/CAm J Hum Genet, 71
-
M Sinensky, K Fantle, M Trujillo, T McLain, A Kupfer, M Dalton (1994)
The processing pathway of prelaminA. J Cell Sci, 107
-
BA Kudlow, MN Stanfel, CR Burtner, ED Johnston, BK Kennedy (2008)
Suppression of proliferative defects associated with processing-defective lamin A mutants by hTERT or inactivation of p53Mol Biol Cell, 19
-
A Senior, L Gerace (1988)
Integral membrane proteins specific to the inner nuclear membrane and associated with the nuclear laminaJ Cell Biol, 107
-
F Houben, CH Willems, IL Declercq, K Hochstenbach, MA Kamps, LH Snoeckx (2009)
Disturbed nuclear orientation and cellular migration in A-type lamin deficient cellsBiochim Biophys Acta, 1793
-
M Crisp, Q Liu, K Roux, JB Rattner, C Shanahan, B Burke (2006)
Coupling of the nucleus and cytoplasm: role of the LINC complexJ Cell Biol, 172
-
A Garg (2011)
Lipodystrophies: genetic and acquired body fat disordersJ Clin Endocrinol Metab, 96
-
SH Yang, X Qiao, LG Fong, SG Young (2008)
Treatment with a farnesyltransferase inhibitor improves survival in mice with a Hutchinson–Gilford progeria syndrome mutationBiochim Biophys Acta, 1781
-
Q Ye, HJ Worman (1996)
Interaction between an integral protein of the nuclear envelope inner membrane and human chromodomain proteins homologous to Drosophila HP1J Biol Chem, 271
-
JCS Dean, ES Gray, KN Stewart, T Brown, DJ Lloyd, NC Smith (1993)
Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expressionClin Genet, 44
-
SH Yang, M Meta, X Qiao, D Frost, J Bauch, CA Coffinier (2006)
A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson–Gilford progeria syndrome mutationJ Clin Invest, 116
-
C Östlund, G Bonne, K Schwartz, HJ Worman (2001)
Properties of lamin A mutants found in Emery–Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophyJ Cell Sci, 114
-
Q Zhang, C Bethmann, NF Worth, JD Davies, C Wasner, A Feuer (2007)
Nesprin-1 and -2 are involved in the pathogenesis of Emery–Dreifuss muscular dystrophy and are critical for nuclear envelope integrityHum Mol Genet, 16
-
K Tilgner, K Wojciechowicz, C Jahoda, C Hutchison, E Markiewicz (2009)
Dynamic complexes of A-type lamins and emerin influence adipogenic capacity of the cell via nucleocytoplasmic distribution of beta-cateninJ Cell Sci, 122
-
MN Astejada, K Goto, A Nagano, S Ura, S Noguchi, I Nonaka (2007)
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in JapanActa Myol, 26
-
K Furukawa, Y Hotta (1993)
cDNA cloning of a germ cell specific lamin B3 from mouse spermatocytes and analysis of its function by ectopic expression in somatic cellsEMBO J, 12
-
M Caron, M Auclair, B Donadille, V Béréziat, B Guerci, M Laville (2007)
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 senescenceCell Death Differ, 14
-
GH Liu, BZ Barkho, S Ruiz, D Diep, J Qu, SL Yang (2011)
Recapitulation of premature ageing with iPSCs from Hutchinson–Gilford progeria syndromeNature, 472
-
U Aebi, J Cohn, L Buhle, L Gerace (1986)
The nuclear lamina is a meshwork of intermediate-type filamentsNature, 323
-
A Garg, RA Speckman, AM Bowcock (2002)
Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C geneAm J Med, 112
-
F Lin, HJ Worman (1995)
Structural organization of the human gene (LMNB1) encoding nuclear lamin B1Genomics, 27
-
LJ Ozelius, JW Hewett, CE Page, SB Bressman, PL Kramer, C Shalish (1997)
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding proteinNat Genet, 17
-
G Blobel (1985)
Gene gating: a hypothesisProc Natl Acad Sci USA, 82
-
KL Wydner, JA McNeil, F Lin, HJ Worman, JB Lawrence (1996)
Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridizationGenomics, 32
-
F Gros-Louis, N Dupre, P Dion, MA Fox, S Laurent, S Verreault (2007)
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxiaNat Genet, 39
-
T Dechat, SA Adam, P Taimen, T Shimi, RD Goldman (2010)
Nuclear laminsCold Spring Harb Perspect Biol, 2
-
MG Taylor, D Slavov, A Gajewski, S Vlcek, L Ku, PR Fain (2005)
Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathyHum Mutat, 26
-
A Sandre-Giovannoli, R Bernard, P Cau, C Navarro, J Amiel, I Boccaccio (2003)
Lamin A truncation in Hutchinson–Gilford progeriaScience, 300
-
C Goizet, RB Yaou, L Demay, P Richard, S Bouillot, M Rouanet (2004)
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychiaJ Med Genet, 41
-
P Gonzalez-Alegre, HL Paulson (2004)
Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystoniaJ Neurosci, 24
-
A Nagano, R Koga, M Ogawa, Y Kurano, J Kawada, R Okada (2006)
Emerin deficiency at the nuclear membrane in patients with Emery–Dreifuss muscular dystrophyNat Genet, 12
-
B Liu, J Wang, KM Chan, WM Tjia, W Deng, X Guan (2005)
Genomic instability in laminopathy-based premature agingNat Med, 11
-
A Muchir, G Bonne, AJ Kooi, M Meegen, F Baas, PA Bolhuis (2000)
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, 9
-
GW Luxton, ER Gomes, ES Folker, E Vintinner, GG Gundersen (2010)
Linear arrays of nuclear envelope proteins harness retrograde actin flow for nuclear movementScience, 329
-
RE Goodchild, WT Dauer (2005)
The AAA+protein torsinA interacts with a conserved domain present in LAP1 and a novel ER proteinJ Cell Biol, 168
-
WH Raharjo, P Enarson, T Sullivan, CL Stewart, B Burke (2001)
Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophyJ Cell Sci, 114
-
F Lin, HJ Worman (1993)
Structural organization of the human gene encoding nuclear lamin A and nuclear lamin CJ Biol Chem, 268
-
S Quijano-Roy, B Mbieleu, CG Bönnemann, PY Jeannet, J Colomer, NF Clarke (2008)
De novo LMNA mutations cause a new form of congenital muscular dystrophyAnn Neurol, 64
-
DZ Fisher, N Chaudhary, G Blobel (1986)
cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteinsProc Natl Acad Sci USA, 83
-
W Li, LS Yeo, C Vidal, T McCorquodale, M Herrmann, D Fatkin (2011)
Decreased bone formation and osteopenia in lamin A/C-deficient micePLoS One, 6
-
JT Lu, A Muchir, PL Nagy, HJ Worman (2011)
LMNA cardiomyopathy: cell biology and genetics meet clinical medicineDis Model Mech, 4
-
C Laguri, B Gilquin, N Wolff, R Romi-Lebrun, K Courchay, I Callebaut (2001)
Structural characterization of the LEM motif common to three human inner nuclear membrane proteinsStructure, 9
-
R Ben Yaou, C Navarro, S Quijano-Roy, AT Bertrand, C Massart, A Sandre-Giovannoli (2011)
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutationEur J Hum Genet, 19
-
A Dutour, P Roll, B Gaborit, S Courrier, MC Alessi, DA Tregouet (2011)
High prevalence of laminopathies among patients with metabolic syndromeHum Mol Genet, 20
-
SH Yang, DA Andres, HP Spielmann, SG Young, LG Fong (2008)
Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylatedJ Clin Invest, 118
-
EC Schirmer, L Florens, T Guan, JR Yates, L Gerace (2003)
Nuclear membrane proteins with potential disease links found by subtractive proteomicsScience, 301
-
JC Ho, T Zhou, WH Lai, Y Huang, YC Chan, X Li (2011)
Generation of induced pluripotent stem cell lines from 3 distinct laminopathies bearing heterogeneous mutations in lamin A/CAging (Albany NY), 3
-
J Schuster, J Sundblom, AC Thuresson, S Hassin-Baer, T Klopstock, M Dichgans (2011)
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptomsNeurogenetics, 12
-
MJ Puckelwartz, EJ Kessler, G Kim, MM Dewitt, Y Zhang, JU Earley (2010)
Nesprin-1 mutations in human and murine cardiomyopathyJ Mol Cell Cardiol, 48
-
MC Vantyghem, P Pigny, CA Maurage, N Rouaix-Emery, T Stojkovic, JM Cuisset (2004)
Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalitiesJ Clin Endocrinol Metab, 89
-
L Guelen, L Pagie, E Brasset, W Meuleman, MB Faza, W Talhout (2008)
Domain organization of human chromosomes revealed by mapping of nuclear lamina interactionsNature, 453
-
LG Fong, JK Ng, M Meta, N Coté, SH Yang, CL Stewart (2004)
Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient miceProc Natl Acad Sci USA, 101
-
K Hoffmann, CK Dreger, AL Olins, DE Olins, LD Shultz, B Lucke (2002)
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly)Nat Genet, 31
-
I Krimm, C Östlund, B Gilquin, J Couprie, P Hossenlopp, JP Mornon (2002)
The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophyStructure, 10
-
AK Agarwal, I Kazachkova, S Ten, A Garg (2008)
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutationJ Clin Endocrinol Metab, 93
-
K Cao, CD Blair, DA Faddah, JE Kieckhaefer, M Olive, MR Erdos (2011)
Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblastsJ Clin Invest, 121
-
BC Capell, M Olive, MR Erdos, K Cao, DA Faddah, UL Tavarez (2008)
A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse modelProc Natl Acad Sci USA, 105
-
A Muchir, P Pavlidis, G Bonne, YK Hayashi, HJ Worman (2007)
Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery–Dreifuss muscular dystrophyHum Mol Genet, 16
-
W Wu, J Shan, G Bonne, HJ Worman, A Muchir (2010)
Pharmacological inhibition of c-Jun N-terminal kinase signaling prevents cardiomyopathy caused by mutation in LMNA geneBiochim Biophys Acta, 1802
-
DA Cutler, T Sullivan, B Marcus-Samuels, CL Stewart, ML Reitman (2002)
Characterization of adiposity and metabolism in Lmna-deficient miceBiochem Biophys Res Commun, 291
-
M Raffaele Di Barletta, E Ricci, G Galluzzi, P Tonali, M Mora (2000)
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery–Dreifuss muscular dystrophyAm J Hum Genet, 66
-
H Cao, RA Hegele (2000)
Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophyHum Mol Genet, 9
-
K Cao, JJ Graziotto, CD Blair, JR Mazzulli, MR Erdos, D Krainc (2011b)
Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson–Gilford progeria syndrome cellsSci Transl Med, 3
-
T Dechat, B Korbei, OA Vaughan, S Vlcek, CJ Hutchison, R Foisner (2000)
Lamina-associated polypeptide 2alpha binds intranuclear A-type laminsJ Cell Sci, 113
-
JC Charniot, D Bonnefont-Rousselot, C Marchand, K Zerhouni, N Vignat, J Peynet (2007)
Oxidative stress implication in a new phenotype of amyotrophic quadricipital syndrome with cardiac involvement due to lamin A/C mutationFree Radic Res, 41
-
L Subramanyam, V Simha, A Garg (2010)
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutationsClin Genet, 78
-
G Biamonti, M Giacca, G Perini, G Contreas, L Zentilin, F Weighardt (1992)
The gene for a novel human lamin maps at a highly transcribed locus of chromosome 19 which replicates at the onset of S-phaseMol Cell Biol, 12
-
F Caux, E Dubosclard, O Lascols, B Buendia, O Chazouillères, A Cohen (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 cardiomyopathyJ Clin Endocrinol Metab, 88
-
GL Kite (1913)
The relative permeability of the surface and interior portions of the cytoplasm of animal and plant cellsBiol Bull, 25
-
S Silve, PH Dupuy, P Ferrara, G Loison (1998)
Human lamin B receptor exhibits sterol C14-reductase activity in Saccharomyces cerevisiaeBiochim Biophys Acta, 1392
-
L Vergnes, M Péterfy, MO Bergo, SG Young, K Reue (2004)
Lamin B1 is required for mouse development and nuclear integrityProc Natl Acad Sci USA, 101
-
S Manilal, TM Nguyen, CA Sewry, GE Morris (2006)
The Emery–Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane proteinHum Mol Genet, 5
-
KL Reddy, JM Zullo, E Bertolino, H Singh (2008)
Transcriptional repression mediated by repositioning of genes to the nuclear laminaNature, 452
-
AE Goldman, G Maul, PM Steinert, HY Yang, RD Goldman (1986)
Keratin-like proteins that coisolate with intermediate filaments of BHK-21 cells are nuclear laminsProc Natl Acad Sci USA, 83
-
A Decaudain, MC Vantyghem, B Guerci, AC Hécart, M Auclair, Y Reznik (2007)
New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndromeJ Clin Endocrinol Metab, 92
-
LM Tanabe, CE Kim, N Alagem, WT Dauer (2009)
Primary dystonia: molecules and mechanismsNat Rev Neurol, 5
-
S Dhe-Paganon, ED Werner, YI Chi, SE Shoelson (2002)
Structure of the globular tail of nuclear laminJ Biol Chem, 277
-
J Hellemans, O Preobrazhenska, A Willaert, P Debeer, PCM Verdonk, T Costa (2004)
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosisNat Genet, 36
-
P Scaffidi, T Misteli (2008)
Lamin A-dependent misregulation of adult stem cells associated with accelerated ageingNat Cell Biol, 10
-
G Bonne, E Mercuri, A Muchir, A Urtizberea, HM Bécane, D Recan (2000)
Clinical and molecular genetic spectrum of autosomal dominant Emery–Dreifuss muscular dystrophy due to mutations of the lamin A/C geneAnn Neurol, 48
-
L Chen, L Lee, BA Kudlow, HG Santos, O Sletvold, Y Shafeghati (2003)
LMNA mutations in atypical Werner’s syndromeLancet, 362
-
L Clements, S Manilal, DR Love, GE Morris (2000)
Direct interaction between emerin and lamin ABiochem Biophys Res Commun, 267
-
LG Fong, D Frost, M Meta, X Qiao, SH Yang, C Coffinier (2006)
A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeriaScience, 311
-
ST Lin, YH Fu (2009)
miR-23 regulation of lamin B1 is crucial for oligodendrocyte development and myelinationDis Model Mech, 2
-
C Coffinier, HJ Jung, C Nobumori, S Chang, Y Tu, RH Barnes (2011)
Deficiencies in lamin B1 and lamin B2 cause neurodevelopmental defects and distinct nuclear shape abnormalities in neuronsMol Biol Cell, 22
-
M Tazir, H Azzedine, S Assami, P Sindou, S Nouioua, R Zemmouri (2004)
Phenotypic variability in autosomal recessive axonal Charcot–Marie–Tooth disease due to the R298C mutation in lamin A/CBrain, 127
-
E Kondé, B Bourgeois, C Tellier-Lebegue, W Wu, J Pérez, S Caputo (2010)
Structural analysis of the Smad2-MAN1 interaction that regulates transforming growth factor-β signaling at the inner nuclear membraneBiochemistry, 49
-
J Lammerding, PC Schulze, T Takahashi, S Kozlov, T Sullivan, RD Kamm (2004)
Lamin A/C deficiency causes defective nuclear mechanics and mechanotransductionJ Clin Invest, 113
-
C Dour, S Schneebeli, F Bakiri, F Darcel, ML Jacquemont, MA Maubert (2011)
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-AJ Clin Endocrinol Metab, 96
-
DP Corrigan, D Kuszczak, AE Rusinol, DP Thewke, CA Hrycyna, S Michaelis (2005)
Prelamin A endoproteolytic processing in vitro by recombinant Zmpste24Biochem J, 387
-
C Coffinier, SY Chang, C Nobumori, Y Tu, EA Farber, JI Toth (2010)
Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiencyProc Natl Acad Sci USA, 107
-
WC Liang, H Mitsuhashi, E Keduka, I Nonaka, S Noguchi, I Nishino (2011)
TMEM43 mutations in Emery–Dreifuss muscular dystrophy-related myopathyAnn Neurol, 69
-
RA Röber, K Weber, M Osborn (1989)
Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental studyDevelopment, 105
-
A Muchir, P Pavlidis, V Decostre, AJ Herron, T Arimura, G Bonne (2007)
Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery–Dreifuss muscular dystrophyJ Clin Invest, 117
-
W Wu, A Muchir, J Shan, G Bonne, HJ Worman (2011)
Mitogen-activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by mutation in lamin A/C geneCirculation, 123
-
SK Mewborn, MJ Puckelwartz, F Abuisneineh, JP Fahrenbach, Y Zhang, H MacLeod (2010)
Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutationPLoS One, 5
-
TV Naismith, JE Heuser, XO Breakefield, PI Hanson (2004)
TorsinA in the nuclear envelopeProc Natl Acad Sci USA, 101
-
CA Wassif, KE Brownson, AL Sterner, A Forlino, PM Zerfas, WK Wilson (2007)
HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiencyHum Mol Genet, 16
-
D Renard, G Fourcade, D Milhaud, D Bessis, V Esteves-Vieira, A Boyer (2009)
Novel LMNA mutation in atypical Werner syndrome presenting with ischemic diseaseStroke, 40
-
A Sandre-Giovannoli, M Chaouch, S Kozlov, JM Vallat, M Tazir, N Kassouri (2002)
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot–Marie–Tooth disorder type 2) and mouseAm J Hum Genet, 70
-
ML Decker, E Chavez, I Vulto, PM Lansdorp (2009)
Telomere length in Hutchinson–Gilford progeria syndromeMech Ageing Dev, 130
-
M Eriksson, WT Brown, LB Gordon, MW Glynn, J Singe, L Scott (2003)
Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndromeNature, 423
-
D Fatkin, C MacRae, T Sasaki, MR Wolff, M Porcu, M Frenneaux (1999)
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system diseaseN Engl J Med, 341
-
SG Young, LG Fong, S Michaelis (2005)
Prelamin A, Zmpste24 misshapen cell nuclei, and progeria—new evidence suggesting that protein farnesylation could be important for disease pathogenesisJ Lipid Res, 46
-
F Lin, JM Morrison, W Wu, HJ Worman (2005)
MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signalingHum Mol Genet, 14
-
EA Fairley, J Kendrick-Jones, JA Ellis (1999)
The Emery–Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membraneJ Cell Sci, 112
-
R Foisner, L Gerace (1993)
Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylationCell, 73
-
VL Verstraeten, JL Broers, MA Steensel, S Zinn-Justin, FC Ramaekers, PM Steijlen (2006)
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulationHum Mol Genet, 15
-
L Renou, S Stora, RB Yaou, M Volk, M Sinkovec, L Demay (2008)
Heart–hand syndrome of Slovenian type: a new kind of laminopathyJ Med Genet, 45
-
S Best, F Salvati, J Kallo, C Garner, S Height, SL Thein (2003)
Lamin B-receptor mutations in Pelger-Huët anomalyBr J Haematol, 123
-
I Varela, S Pereira, AP Ugalde, CL Navarro, MF Suárez, P Cau (2008)
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature agingNat Med, 14
-
G Bonne, M Raffaele Di Barletta, S Varnous, HM Becane, EH Hammouda, L Merlini (1999)
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery–Dreifuss muscular dystrophyNat Genet, 21
-
GL Brodsky, F Muntoni, S Miocic, G Sinagra, C Sewry, L Mestroni (2000)
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvementCirculation, 101
-
J Espada, I Varela, I Flores, AP Ugalde, J Cadiñanos, AM Pendás (2008)
Nuclear envelope defects cause stem cell dysfunction in premature-aging miceJ Cell Biol, 181
-
DJ Lloyd, RC Trembath, S Shackleton (2002)
A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathiesHum Mol Genet, 11
-
HR Waterham, J Koster, P Mooyer, G Noort, RI Kelley, WR Wilcox (2003)
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3-beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor geneAm J Hum Genet, 72
-
VL Verstraeten, S Caputo, MA Steensel, I Duband-Goulet, S Zinn-Justin, M Kamps (2009)
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stressJ Cell Mol Med, 13
-
MC Walter, TN Witt, BS Weigel, P Reilich, P Richard, D Pongratz (2005)
Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery–Dreifuss muscular dystrophyNeuromuscul Disord, 15
-
CL Navarro, J Cadiñanos, A Sandre-Giovannoli, R Bernard, S Courrier, I Boccaccio (2005)
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursorsHum Mol Genet, 14
-
FD McKeon, MW Kirschner, D Caput (1986)
Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteinsNature, 319
-
EK Benson, SW Lee, SA Aaronson (2010)
Role of progerin-induced telomere dysfunction in HGPS premature cellular senescenceJ Cell Sci, 123
-
WT Dauer, HJ Worman (2009)
The nuclear envelope as a signaling node in development and diseaseDev Cell, 17
-
A Garg, L Subramanyam, AK Agarwal, V Simha, B Levine, MR D’Apice (2009)
Atypical progeroid syndrome due to heterozygous missense LMNA mutationsJ Clin Endocrinol Metab, 94
-
C Gaudy-Marqueste, P Roll, V Esteves-Vieira, PJ Weiller, JJ Grob, P Cau (2010)
LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndromeJ Med Genet, 47
-
JS Lee, CM Hale, P Panorchan, SB Khatau, JP George, Y Tseng (2007)
Nuclear lamin A/C deficiency induces defects in cell mechanics, polarization, and migrationBiophys J, 93
-
YY Liu, A Rusinol, M Sinensky, YJ Wang, Y Zou (2006)
DNA damage responses in progeroid syndromes arise from defective maturation of prelamin AJ Cell Sci, 119
-
P Scaffidi, T Misteli (2006)
Lamin A-dependent nuclear defects in human agingScience, 312
-
Y Wang, AJ Herron, HJ Worman (2006)
Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery–Dreifuss muscular dystrophyHum Mol Genet, 15
-
JL Broers, EA Peeters, HJ Kuijpers, J Endert, CV Bouten, CW Oomens (2004)
Decreased mechanical stiffness in LMNA−/− cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathiesHum Mol Genet, 13
-
R Attali, N Warwar, A Israel, I Gurt, E McNally, M Puckelwartz (2009)
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposisHum Mol Genet, 18
-
KM Wojtanik, K Edgemon, S Viswanadha, B Lindsey, M Haluzik, W Chen (2009)
The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutationJ Lipid Res, 50
-
RE Goodchild, WT Dauer (2004)
Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutationProc Natl Acad Sci USA, 101
-
R Akter, D Rivas, G Geneau, H Drissi, G Duque (2009)
Effect of lamin A/C knockdown on osteoblast differentiation and functionJ Bone Miner Res, 24
-
DK Shumaker, KK Lee, YC Tanhehco, R Craigie, KL Wilson (2001)
LAP2 binds to BAF–DNA complexes: requirement for the LEM domain and modulation by variable regionsEMBO J, 20
-
ES Folker, C Östlund, GW Luxton, HJ Worman, GG Gundersen (2011)
Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movementProc Natl Acad Sci USA, 108
-
L Holmer, A Pezhman, HJ Worman (1998)
The human lamin B receptor/sterol reductase multigene familyGenomics, 54
-
DB Savage, MA Soos, A Powlson, S O’Rahilly, I McFarlane, DJ Halsall (2004)
Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA geneDiabetologia, 47
-
CL Moulson, G Go, JM Gardner, AC Wal, JH Smitt, JM Hagen (2005)
Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathyJ Invest Dermatol, 125
-
CM Doucet, MW Hetzer (2010)
Nuclear pore biogenesis into an intact nuclear envelopeChromosoma, 119
-
SM Bailer, HM Eppenberger, G Griffiths, EA Nigg (1991)
Characterization of A 54-kD protein of the inner nuclear membrane: evidence for cell cycle-dependent interaction with the nuclear laminaJ Cell Biol, 114
-
CL Navarro, A Sandre-Giovannoli, R Bernard, I Boccaccio, A Boyer, D Genevieve, S Hadj-Rabia (2004)
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identity restrictive dermopathy as a lethal neonatal laminopathyHum Mol Genet, 13
-
HJ Worman, CD Evans, G Blobel (1990)
The lamin B receptor of the nuclear envelope inner membrane: a polytopic protein with eight potential transmembrane domainsJ Cell Biol, 111
-
D McClintock, D Ratner, M Lokuge, DM Owens, LB Gordon, FS Collins (2007)
The mutant form of lamin A that causes Hutchinson–Gilford progeria is a biomarker of cellular aging in human skinPLoS One, 2
-
XS Puente, V Quesada, FG Osorio, R Cabanillas, J Cadiñanos, JM Fraile (2011)
Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndromeAm J Hum Genet, 88
-
P Clayton, B Fischer, A Mann, S Mansour, E Rossier, M Veen (2010)
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane proteinNucleus, 1
-
HJ Worman, I Lazaridis, SD Georgatos (1988)
Nuclear lamina heterogeneity in mammalian cells. Differential expression of the major lamins and variations in lamin B phosphorylationJ Biol Chem, 263
-
S Shackleton, DJ Lloyd, SN Jackson, R Evans, MF Niermeijer, BM Singh (2000)
LMNA, encoding lamin A/C, is mutated in partial lipodystrophyNat Genet, 24
-
L Hernández, KJ Roux, ES Wong, LC Mounkes, R Mutalif, R Navasankari (2010)
Functional coupling between the extracellular matrix and nuclear lamina by Wnt signaling in progeriaDev Cell, 19
-
J Zhang, Q Lian, G Zhu, F Zhou, L Sui, C Tan (2011)
A human iPSC model of Hutchinson–Gilford progeria reveals vascular smooth muscle and mesenchymal stem cell defectsCell Stem Cell, 8
-
BA Kudlow, SA Jameson, BK Kennedy (2005)
HIV protease inhibitors block adipocyte differentiation independently of lamin A/CAIDS, 19
-
HJ Worman, J Yuan, G Blobel, SD Georgatos (1988)
A lamin B receptor in the nuclear envelopeProc Natl Acad Sci USA, 85
-
M Cai, Y Huang, R Ghirlando, KL Wilson, R Craigie, GM Clore (2001)
Solution structure of the constant region of nuclear envelope protein LAP2 reveals two LEM-domain structures: one binds BAF and the other binds DNAEMBO J, 20
-
RL Boguslavsky, CL Stewart, HJ Worman (2006)
Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophyHum Mol Genet, 15
-
CE Kim, A Perez, G Perkins, MH Ellisman, WT Dauer (2010)
A molecular mechanism underlying the neural-specific defect in torsinA mutant miceProc Natl Acad Sci USA, 107
-
A Muchir, J Shan, G Bonne, SE Lehnart, HJ Worman (2009)
Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type laminsHum Mol Genet, 18
- Publisher
- Springer Journals
- Copyright
- Copyright © 2012 by Springer-Verlag
- Subject
- Life Sciences; Human Genetics; Developmental Biology; Animal Genetics and Genomics; Eukaryotic Microbiology; Biochemistry, general; Cell Biology
- ISSN
- 0009-5915
- eISSN
- 1432-0886
- DOI
- 10.1007/s00412-012-0360-2
- pmid
- 22307332
- Publisher site
- See Article on Publisher Site
Abstract
In the past decade, the inner nuclear membrane has become a focus of research on inherited diseases. A heterogeneous group of genetic disorders known as laminopathies have been described that result from mutations in genes encoding nuclear lamins, intermediate filament proteins associated with the inner nuclear membrane. Mutations in genes encoding integral inner nuclear membrane proteins, many of which bind to nuclear lamins, also cause diseases that sometimes are very similar to those caused by lamin gene mutations. The pathogenic mechanisms that underlie these diseases, which often selectively affect different tissues or organ systems despite the near-ubiquitous expression of the proteins, are only beginning to be elucidated. The unfolding story of the laminopathies provides a remarkable example of how research in basic cell biology has impacted upon medicine and human health.
Journal
Chromosoma – Springer Journals
Published: Feb 4, 2012