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F. Caux, E. Dubosclard, O. Lascols, B. Buendia, O. Chazouilleres, A. Cohen, J. Courvalin, L. Laroche, J. Capeau, C. Vigouroux, S. Christin‐Maitre (2003)
A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.The Journal of clinical endocrinology and metabolism, 88 3
Merav Cohen, Y. Gruenbaum, Kenneth Lee, K. Wilson (2001)
Transcriptional repression, apoptosis, human disease and the functional evolution of the nuclear lamina.Trends in biochemical sciences, 26 1
M. Dunnigan, M. Cochrane, A. Kelly, J. Scott (1974)
Familial Lipoatrophic Diabetes with Dominant TransmissionQJM: An International Journal of Medicine, 43
A. Agarwal, J. Fryns, R. Auchus, A. Garg (2003)
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.Human molecular genetics, 12 16
M. Bergo, Bryant Gavino, J. Ross, W. Schmidt, C. Hong, L. Kendall, A. Mohr, M. Meta, H. Genant, Yebin Jiang, E. Wisner, N. Bruggen, R. Carano, S. Michaelis, S. Griffey, S. Young (2002)
Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defectProceedings of the National Academy of Sciences of the United States of America, 99
Cecilia Östlund, G. Bonne, K. Schwartz, H. Worman (2001)
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.Journal of cell science, 114 Pt 24
B. Novitch, D. Spicer, P. Kim, Wang Cheung, A. Lassar (1999)
pRb is required for MEF2-dependent gene expression as well as cell-cycle arrest during skeletal muscle differentiationCurrent Biology, 9
S. Bione, E. Maestrini, S. Rivella, M. Mancini, S. Regis, G. Romeo, D. Toniolo (1994)
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophyNature Genetics, 8
P. Hinds, S. Mittnacht, V. Dulić, A. Arnold, S. Reed, R. Weinberg (1992)
Regulation of retinoblastoma protein functions by ectopic expression of human cyclinsCell, 70
S. Shackleton, D. Lloyd, S. Jackson, R. Evans, M. Niermeijer, Baldev Singh, H. Schmidt, G. Brabant, Sudesh Kumar, P. Durrington, S. Gregory, S. O’Rahilly, R. Trembath (2000)
LMNA, encoding lamin A/C, is mutated in partial lipodystrophyNature Genetics, 24
T. Spann, R. Moir, A. Goldman, R. Stick, R. Goldman (1997)
Disruption of Nuclear Lamin Organization Alters the Distribution of Replication Factors and Inhibits DNA SynthesisThe Journal of Cell Biology, 136
J Frangioni (1993)
481J. Cell Sci., 105
C. Hutchison, M. Alvarez-Reyes, O. Vaughan (2001)
Lamins in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes?Journal of cell science, 114 Pt 1
V. Stierlé, J. Couprie, C. Ostlund, I. Krimm, S. Zinn-Justin, P. Hossenlopp, H. Worman, J. Courvalin, I. Duband-Goulet (2003)
The carboxyl-terminal region common to lamins A and C contains a DNA binding domain.Biochemistry, 42 17
O. Vaughan, M. Alvarez-Reyes, J. Bridger, J. Broers, M. Wenhert, G. Morris, W. Whitfield, C. Hutchison (2000)
Lamins A and C form a structural complex that anchors emerin at the nuclear envelopeCellular & Molecular Biology Letters, 05
E. Markiewicz, T. Dechat, R. Foisner, R. Quinlan, C. Hutchison (2002)
Lamin A/C binding protein LAP2alpha is required for nuclear anchorage of retinoblastoma protein.Molecular biology of the cell, 13 12
C. Navarro, A. Sandre-Giovannoli, R. Bernard, I. Boccaccio, A. Boyer, D. Geneviève, S. Hadj-Rabia, C. Gaudy-Marqueste, H. Smitt, Pierre Vabres, L. Faivre, A. Verloes, T. Essen, E. Flori, R. Hennekam, F. Beemer, N. Laurent, M. Merrer, P. Cau, N. Lévy (2004)
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.Human molecular genetics, 13 20
C. Vigouroux, M. Auclair, E. Dubosclard, M. Pouchelet, J. Capeau, J. Courvalin, B. Buendia (2001)
Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene.Journal of cell science, 114 Pt 24
A. Muchir, B. Engelen, M. Lammens, J. Mislow, E. McNally, K. Schwartz, G. Bonne (2003)
Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene.Experimental cell research, 291 2
L. Mounkes, S. Kozlov, Lidia Hernandez, Teresa Sullivan, C. Stewart (2003)
A progeroid syndrome in mice is caused by defects in A-type laminsNature, 423
James Holaska, Kenneth Lee, Amy Kowalski, K. Wilson (2003)
Transcriptional Repressor Germ Cell-less (GCL) and Barrier to Autointegration Factor (BAF) Compete for Binding to Emerin in Vitro *The Journal of Biological Chemistry, 278
CJ Hutchison (2001)
9J. Cell Sci., 114
A. Fidziańska, D. Toniolo, I. Hausmanowa-Petrusewicz (1998)
Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD)Journal of the Neurological Sciences, 159
U. Aebi, J. Cohn, L. Buhle, L. Gerace (1986)
The nuclear lamina is a meshwork of intermediate-type filamentsNature, 323
T. Spann, A. Goldman, Chen Wang, Sui Huang, R. Goldman (2002)
Alteration of nuclear lamin organization inhibits RNA polymerase II–dependent transcriptionThe Journal of Cell Biology, 156
J. Broers, E. Peeters, H. Kuijpers, J. Endert, C. Bouten, C. Oomens, F. Baaijens, F. Ramaekers (2004)
Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies.Human molecular genetics, 13 21
K. Wydner, J. Mcneil, Feng Lin, Howard Worman, Jeanne Lawrence (1996)
Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization.Genomics, 32 3
D. Lloyd, R. Trembath, S. Shackleton (2002)
A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies.Human molecular genetics, 11 7
C. Favreau, D. Higuet, J. Courvalin, B. Buendia (2004)
Expression of a Mutant Lamin A That Causes Emery-Dreifuss Muscular Dystrophy Inhibits In Vitro Differentiation of C2C12 MyoblastsMolecular and Cellular Biology, 24
A. Sandre-Giovannoli, R. Bernard, P. Cau, C. Navarro, J. Amiel, I. Boccaccio, S. Lyonnet, C. Stewart, A. Munnich, M. Merrer, N. Lévy (2003)
Lamin A Truncation in Hutchinson-Gilford ProgeriaScience, 300
A. Sandre-Giovannoli, M. Chaouch, S. Kozlov, J. Vallat, M. Tazir, N. Kassouri, P. Szepetowski, T. Hammadouche, A. Vandenberghe, C. Stewart, D. Grid, N. Lévy (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 mouse.American journal of human genetics, 70 3
A. Nagano, R. Koga, M. Ogawa, Y. Kurano, J. Kawada, R. Okada, Y. Hayashi, T. Tsukahara, K. Arahata (1996)
Emerin deficiency at the nuclear membrane in patients with Emery-Dreif uss muscular dystrophyNature Genetics, 12
Georg Krohne, Irene Waizenegger, Thomas Hsger (1989)
The conserved carboxy-terminal cysteine of nuclear lamins is essential for lamin association with the nuclear envelopeThe Journal of Cell Biology, 109
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 cells.The EMBO Journal, 12
AE Emery, FE Dreifuss (1966)
Unusual type of benign X-linked muscular dystrophyJ. Neurol. Neurosurg. Psychiatry, 29
J. Meier, K. Campbell, C. Ford, R. Stick, Christopher Hutchison (1991)
The role of lamin LIII in nuclear assembly and DNA replication, in cell-free extracts of Xenopus eggs.Journal of cell science, 98 ( Pt 3)
S. Dhe-Paganon, E. Werner, Y. Chi, S. Shoelson (2002)
Structure of the Globular Tail of Nuclear Lamin*The Journal of Biological Chemistry, 277
Y-Y Zhen (2002)
3207J. Cell Sci., 115
Y. Zhen, T. Libotte, M. Munck, A. Noegel, E. Korenbaum (2002)
NUANCE, a giant protein connecting the nucleus and actin cytoskeleton.Journal of cell science, 115 Pt 15
E. Apel, Renate Lewis, R. Grady, J. Sanes (2000)
Syne-1, A Dystrophin- and Klarsicht-related Protein Associated with Synaptic Nuclei at the Neuromuscular Junction*The Journal of Biological Chemistry, 275
K. Kozłowski, John Brown, R. Hardwick, D. Sillence (2005)
A new syndrome?Pediatric Radiology, 22
J. Newport, Katherine Wilson, W. Dunphy (1990)
A lamin-independent pathway for nuclear envelope assemblyThe Journal of Cell Biology, 111
C. Dreuillet, J. Tillit, M. Kress, M. Ernoult-Lange (2002)
In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C.Nucleic acids research, 30 21
Douglas Holtz, R. Tanaka, J. Hartwig, F. McKeon (1989)
The CaaX motif of lamin A functions in conjunction with the nuclear localization signal to target assembly to the nuclear envelopeCell, 59
E. Markiewicz, R. Venables, Mauricio-Alvarez-Reyes, R. Quinlan, Margareth Dorobek, Irena Hausmanowa-Petrucewicz, C. Hutchison (2002)
Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts.Journal of structural biology, 140 1-3
G. Jagatheesan, S. Thanumalayan, B. Muralikrishna, N. Rangaraj, Anjali Karande, V. Parnaik (1999)
Colocalization of intranuclear lamin foci with RNA splicing factors.Journal of cell science, 112 ( Pt 24)
L. Bengtsson, K. Wilson (2004)
Multiple and surprising new functions for emerin, a nuclear membrane protein.Current opinion in cell biology, 16 1
R. Goldman, D. Shumaker, M. Erdos, M. Eriksson, A. Goldman, L. Gordon, Y. Gruenbaum, S. Khuon, Melissa Mendez, R. Varga, F. Collins (2004)
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson–Gilford progeria syndromeProceedings of the National Academy of Sciences of the United States of America, 101
S. Imai, S. Nishibayashi, K. Takao, M. Tomifuji, T. Fujino, M. Hasegawa, T. Takano (1997)
Dissociation of Oct-1 from the nuclear peripheral structure induces the cellular aging-associated collagenase gene expression.Molecular biology of the cell, 8 12
A. Muchir, G. Bonne, A. Kooi, M. Meegen, F. Baas, P. Bolhuis, M. Visser, K. Schwartz (2000)
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).Human molecular genetics, 9 9
H. Cao, R. Hegele (2000)
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.Human molecular genetics, 9 1
(1993)
identification of critical residues in the nuclear lamin A/C nuclear localisation sequence
J. Harborth, Sayda Elbashir, Kim Bechert, T. Tuschl, K. Weber (2001)
Identification of essential genes in cultured mammalian cells using small interfering RNAs.Journal of cell science, 114 Pt 24
FL DeBusk (1972)
The Hutchinson-Gilford progeria syndromeJ. Pediatr., 80
I. Krimm, C. Ostlund, B. Gilquin, J. Couprie, P. Hossenlopp, J. Mornon, G. Bonne, J. Courvalin, H. Worman, S. Zinn-Justin (2002)
The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy.Structure, 10 6
A. Fidziańska, I. Hausmanowa-Petrusewicz (2003)
Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant forms of EDMDJournal of the Neurological Sciences, 210
D. Fisher, N. Chaudhary, G. Blobel (1986)
cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins.Proceedings of the National Academy of Sciences of the United States of America, 83 17
J. Bridger, I. Kill (2004)
Aging of Hutchinson–Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosisExperimental Gerontology, 39
OA Vaughan (2001)
Lamins A and C form a structural complex that anchors emerinat the nuclear envelopeJ. Cell Sci., 114
Qiuping Zhang, J. Skepper, Fangtang Yang, J. Davies, L. Hegyi, R. Roberts, P. Weissberg, Juliet Ellis, C. Shanahan (2001)
Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues.Journal of cell science, 114 Pt 24
B. Muralikrishna, J. Dhawan, N. Rangaraj, V. Parnaik (2001)
Distinct changes in intranuclear lamin A/C organization during myoblast differentiation.Journal of cell science, 114 Pt 22
U Aebi, J Cohn, L Buhle, L Gerace (1986)
The nuclear lamina is a meshwork of intermediate filament type filamentsNature, 323
H. Worman, J. Courvalin (2002)
The nuclear lamina and inherited disease.Trends in cell biology, 12 12
C. Vigouroux, F. Caux, Jacqueline Capeau, Sophie Christin-Maitre, Ariel Cohen, Gisèle Bonne, Nicolas Lévy, J. Oshima, A. Garg, G. Martin, Brian Kennedy (2003)
LMNA mutations in atypical Werner's syndromeThe Lancet, 362
J Lammerding (2004)
370J. Clin. Invest., 113
J. Hansen, Claus Jørgensen, R. Petersen, P. Hallenborg, R. Matteis, H. Bøye, N. Petrovic, S. Enerbäck, J. Nedergaard, S. Cinti, H. Riele, K. Kristiansen (2004)
Retinoblastoma protein functions as a molecular switch determining white versus brown adipocyte differentiationProceedings of the National Academy of Sciences of the United States of America, 101
A. Muchir, J. Médioni, M. Laluc, C. Massart, T. Arimura, A. Kooi, I. Desguerre, M. Mayer, X. Ferrer, S. Briault, M. Hirano, H. Worman, A. Mallet, M. Wehnert, K. Schwartz, G. Bonne (2004)
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutationsMuscle & Nerve, 30
A. Csoka, H. Cao, P. Sammak, D. Constantinescu, G. Schatten, R. Hegele (2004)
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromesJournal of Medical Genetics, 41
S. Manilal, N. Man, C. Sewry, G. Morris (1996)
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein.Human molecular genetics, 5 6
永野 敦 (1996)
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
D. Cutler, Teresa Sullivan, B. Marcus‐Samuels, C. Stewart, M. Reitman (2002)
Characterization of adiposity and metabolism in Lmna-deficient mice.Biochemical and biophysical research communications, 291 3
J. Mislow, James Holaska, Marian Kim, Kenneth Lee, M. Segura-Totten, K. Wilson, E. McNally (2002)
Nesprin‐1α self‐associates and binds directly to emerin and lamin A in vitroFEBS Letters, 525
A. Pendás, Zhongjun Zhou, J. Cadiñanos, J. Freije, Jianming Wang, K. Hultenby, A. Astudillo, A. Wernerson, Francisco Rodríguez, K. Tryggvason, C. López-Otín (2002)
Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase–deficient miceNature Genetics, 31
S. Grundy, H. Brewer, J. Cleeman, Sidney Smith, C. Lenfant, R. Bonow, R. Eckel, D. Einhorn, S. Haffner, R. Holman, E. Horton, R. Krauss, Daniel Levy, X. Pi-Sunyer, D. Porte, G. Reaven, F. Sacks, N. Stone, P. Wilson (2004)
Definition of Metabolic Syndrome: Report of the National Heart, Lung, and Blood Institute/American Heart Association Conference on Scientific Issues Related to DefinitionCirculation: Journal of the American Heart Association, 109
G. Novelli, A. Muchir, F. Sangiuolo, A. Helbling-Leclerc, M. D’Apice, C. Massart, F. Capon, P. Sbraccia, M. Federici, R. Lauro, C. Tudisco, R. Pallotta, G. Scarano, B. Dallapiccola, L. Merlini, G. Bonne (2002)
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.American journal of human genetics, 71 2
J. Peters, Robert Barnes, L. Bennett, William Gitomer, A. Bowcock, A. Garg (1998)
Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21–22Nature Genetics, 18
OA Vaughan (2001)
2577J. Cell Sci., 114
Brett Johnson, R. Nitta, Richard Frock, L. Mounkes, D. Barbie, C. Stewart, E. Harlow, B. Kennedy (2004)
A-type lamins regulate retinoblastoma protein function by promoting subnuclear localization and preventing proteasomal degradation.Proceedings of the National Academy of Sciences of the United States of America, 101 26
K. Vorburger, G. Kitten, E. Nigg (1989)
Modification of nuclear lamin proteins by a mevalonic acid derivative occurs in reticulocyte lysates and requires the cysteine residue of the C‐terminal CXXM motif.The EMBO Journal, 8
M. Eriksson, W. Brown, L. Gordon, L. Gordon, M. Glynn, J. Singer, L. Scott, M. Erdos, C. Robbins, T. Moses, Peter Berglund, A. Dutra, E. Pak, Sandra Durkin, A. Csoka, M. Boehnke, T. Glover, F. Collins (2003)
Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndromeNature, 423
A Maatta (2004)
265
Brian Kennedy, D. Barbie, Marie Classon, Nicholas Dyson, Ed Harlow (2000)
Nuclear organization of DNA replication in primary mammalian cells.Genes & development, 14 22
D. Ingber (2003)
Mechanosensation through integrins: Cells act locally but think globallyProceedings of the National Academy of Sciences of the United States of America, 100
F. Lin, H. Worman (1993)
Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C.The Journal of biological chemistry, 268 22
E. Schirmer, T. Guan, L. Gerace (2001)
Involvement of the Lamin Rod Domain in Heterotypic Lamin Interactions Important for Nuclear OrganizationThe Journal of Cell Biology, 153
L. Clements, S. Manilal, D. Love, G. Morris (2000)
Direct interaction between emerin and lamin A.Biochemical and biophysical research communications, 267 3
V. Nikolova, Christiana Leimena, A. Mcmahon, J. Tan, S. Chandar, D. Jogia, S. Kesteven, J. Michalicek, R. Otway, F. Verheyen, Stephen Rainer, C. Stewart, D. Martin, M. Feneley, D. Fatkin (2004)
Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice.The Journal of clinical investigation, 113 3
F. DeBusk (1972)
The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature.The Journal of pediatrics, 80 4
M. Schumacher, S. Camp, Y. Maulet, M. Newton, K. MacPhee-Quigley, Susan Taylor, T. Friedmann, P. Taylor (1986)
Primary structure of Torpedo californica acetylcholinesterase deduced from its cDNA sequenceNature, 319
DJ Ellis (1997)
2507J. Cell Sci., 110
David Evans, Carole Hutchinson, John Bryant (2004)
The nuclear envelope
T. Ozaki, M. Saijo, K. Murakami, H. Enomoto, Y. Taya, S. Sakiyama (1994)
Complex formation between lamin A and the retinoblastoma gene product: identification of the domain on lamin A required for its interaction.Oncogene, 9 9
J Meier (1991)
271J. Cell Sci., 98
D. Fatkin, C. Macrae, T. Sasaki, M. Wolff, M. Porcu, M. Frenneaux, J. Atherton, H. Vidaillet, S Spudich, U. Girolami, J. Seidman, C. Seidman, F. Muntoni, G. Müehle, W. Johnson, B. McDonough (1999)
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.The New England journal of medicine, 341 23
Einav Nili, Gady Cojocaru, Yael Kalma, Doron Ginsberg, N. Copeland, D. Gilbert, Nancy Jenkins, Raanan Berger, S. Shaklai, N. Amariglio, Frida Brok-Simoni, Amos Simon, Gideon Rechavi (2001)
Nuclear membrane protein LAP2beta mediates transcriptional repression alone and together with its binding partner GCL (germ-cell-less).Journal of cell science, 114 Pt 18
Teresa Sullivan, D. Escalante-Alcalde, H. Bhatt, M. Anver, N. Bhat, K. Nagashima, C. Stewart, B. Burke (1999)
Loss of a-Type Lamin Expression Compromises Nuclear Envelope Integrity Leading to Muscular DystrophyThe Journal of Cell Biology, 147
E. Markiewicz, Maria Ledran, C. Hutchison (2005)
Remodelling of the nuclear lamina and nucleoskeleton is required for skeletal muscle differentiation in vitroJournal of Cell Science, 118
Wahyu Raharjo, P. Enarson, Teresa Sullivan, C. Stewart, B. Burke (2001)
Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy.Journal of cell science, 114 Pt 24
J. Lammerding, P. Schulze, Tomosaburo Takahashi, S. Kozlov, Teresa Sullivan, R. Kamm, C. Stewart, Richard Lee (2004)
Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction.The Journal of clinical investigation, 113 3
Frank McKeon, M. Kirschner, D. Caput (1986)
Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteinsNature, 319
J. Liu, T. Ben-Shahar, D. Riemer, M. Treinin, P. Spann, K. Weber, A. Fire, Y. Gruenbaum (2000)
Essential roles for Caenorhabditis elegans lamin gene in nuclear organization, cell cycle progression, and spatial organization of nuclear pore complexes.Molecular biology of the cell, 11 11
J Harborth (2001)
4557J. Cell Sci., 114
Q Zhang (2001)
4485J. Cell Sci., 114
Darren Ellis, Hazel Jenkins, William Whitfield, Christopher Hutchison (1997)
GST-lamin fusion proteins act as dominant negative mutants in Xenopus egg extract and reveal the function of the lamina in DNA replication.Journal of cell science, 110 ( Pt 20)
H. Cao, R. Hegele (2003)
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)Journal of Human Genetics, 48
K. Wilson, Michael Zastrow, Kenneth Lee (2001)
Lamins and Disease Insights into Nuclear InfrastructureCell, 104
G. Bonne, E. Mercuri, A. Muchir, A. Urtizberea, H. Bécane, D. Récan, L. Merlini, M. Wehnert, R. Boor, U. Reuner, M. Vorgerd, E. Wicklein, B. Eymard, D. Duboc, I. Pénisson‐Besnier, J. Cuisset, X. Ferrer, I. Desguerre, D. Lacombe, K. Bushby, C. Pollitt, D. Toniolo, M. Fardeau, K. Schwartz, F. Muntoni (2000)
Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C geneAnnals of Neurology, 48
O. Vaughan, M. Alvarez-Reyes, J. Bridger, J. Broers, F. Ramaekers, M. Wehnert, G. Morris, W. Whitfield, C. Hutchison (2001)
Both emerin and lamin C depend on lamin A for localization at the nuclear envelope.Journal of cell science, 114 Pt 14
Rebecca Speckman, A. Garg, Fenghe Du, L. Bennett, Rose Veile, E. Arioglu, Simeon Taylor, M. Lovett, A. Bowcock (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/C.American journal of human genetics, 66 4
C. Hutchison (2002)
Lamins: building blocks or regulators of gene expression?Nature Reviews Molecular Cell Biology, 3
G. Bonne, M. Barletta, S. Varnous, H. Bécane, E. Hammouda, L. Merlini, F. Muntoni, C. Greenberg, F. Gary, J. Urtizberea, D. Duboc, M. Fardeau, D. Toniolo, K. Schwartz (1999)
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophyNature Genetics, 21
M. Dunnigan, M. Cochrane, A. Kelly, J. Scott (1974)
Familial lipoatrophic diabetes with dominant transmission. A new syndrome.The Quarterly journal of medicine, 43 169
J. Frangioni, Benjamin Neel (1993)
Use of a general purpose mammalian expression vector for studying intracellular protein targeting: identification of critical residues in the nuclear lamin A/C nuclear localization signal.Journal of cell science, 105 ( Pt 2)
The gene LMNA encodes the proteins lamins A and C and is implicated in nine different laminopathies — inherited diseases that are linked to premature ageing. Recent evidence has demonstrated that lamins A and C have essential functions in protecting cells from physical damage, as well as in maintaining the function of transcription factors required for the differentiation of adult stem cells. Thus, the degenerative nature of laminopathies is explained because these lamins are essential for maintenance of somatic tissues in adulthood.
Nature Cell Biology – Springer Journals
Published: Nov 1, 2004
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