The nuclear envelope as a signaling node in development and disease.

[1]  D. Fawcett,et al.  On the occurrence of a fibrous lamina on the inner aspect of the nuclear envelope in certain cells of vertebrates. , 1966, The American journal of anatomy.

[2]  A. Cohen,et al.  The nuclear fibrous lamina in human cells: Studies on its appearance and distribution , 1976, The Anatomical record.

[3]  V. Mareš,et al.  Nuclear pore complexes in cells of the developing mouse cerebral cortex. , 1978, Acta histochemica.

[4]  G. Blobel,et al.  Immunocytochemical localization of the major polypeptides of the nuclear pore complex-lamina fraction. Interphase and mitotic distribution , 1978, The Journal of cell biology.

[5]  L. Deaven,et al.  Investigation of the determinants of nuclear pore number. , 1980, Cytogenetics and cell genetics.

[6]  M. Kirschner,et al.  Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins , 1986, Nature.

[7]  U. Aebi,et al.  The nuclear lamina is a meshwork of intermediate-type filaments , 1986, Nature.

[8]  G. Blobel,et al.  cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins. , 1986, Proceedings of the National Academy of Sciences of the United States of America.

[9]  P. Steinert,et al.  Keratin-like proteins that coisolate with intermediate filaments of BHK-21 cells are nuclear lamins. , 1986, Proceedings of the National Academy of Sciences of the United States of America.

[10]  M. Bornens,et al.  A human T lymphoblastic cell line lacks lamins A and C. , 1987, The EMBO journal.

[11]  C. Stewart,et al.  Teratocarcinoma stem cells and early mouse embryos contain only a single major lamin polypeptide closely resembling lamin B , 1987, Cell.

[12]  K. Weber,et al.  Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study. , 1989, Development.

[13]  M. Peter,et al.  The role of the head and tail domain in lamin structure and assembly: analysis of bacterially expressed chicken lamin A and truncated B2 lamins. , 1992, Journal of structural biology.

[14]  E. Maestrini,et al.  Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy , 1994, Nature Genetics.

[15]  W. Lee,et al.  The retinoblastoma gene product is a cell cycle-dependent, nuclear matrix-associated protein. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[16]  K. Murakami,et al.  Complex formation between lamin A and the retinoblastoma gene product: identification of the domain on lamin A required for its interaction. , 1994, Oncogene.

[17]  S. Manilal,et al.  The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. , 1996, Human molecular genetics.

[18]  T. Tsukahara,et al.  Emerin deficiency at the nuclear membrane in patients with Emery-Dreif uss muscular dystrophy , 1996, Nature Genetics.

[19]  E. Hurt,et al.  Yeast genetics to dissect the nuclear pore complex and nucleocytoplasmic trafficking. , 1997, Annual review of genetics.

[20]  E. Buchner,et al.  Insertional Mutation of the Drosophila Nuclear Lamin Dm0 Gene Results in Defective Nuclear Envelopes, Clustering of Nuclear Pore Complexes, and Accumulation of Annulate Lamellae , 1997, The Journal of cell biology.

[21]  N. Risch,et al.  The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein , 1997, Nature Genetics.

[22]  Brian Burke,et al.  Loss of a-Type Lamin Expression Compromises Nuclear Envelope Integrity Leading to Muscular Dystrophy , 1999, The Journal of cell biology.

[23]  F. Muntoni,et al.  Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy , 1999, Nature Genetics.

[24]  M. Lovett,et al.  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. , 2000, American journal of human genetics.

[25]  K Weber,et al.  Essential roles for Caenorhabditis elegans lamin gene in nuclear organization, cell cycle progression, and spatial organization of nuclear pore complexes. , 2000, Molecular biology of the cell.

[26]  B. Clurman,et al.  Characterization and Targeted Disruption of Murine Nup50, a p27Kip1-Interacting Component of the Nuclear Pore Complex , 2000, Molecular and Cellular Biology.

[27]  Claude Mugnier,et al.  Mutant WD-repeat protein in triple-A syndrome , 2000, Nature Genetics.

[28]  S. Gregory,et al.  LMNA, encoding lamin A/C, is mutated in partial lipodystrophy , 2000, Nature Genetics.

[29]  R. Hegele,et al.  Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. , 2000, Human molecular genetics.

[30]  M. Krasnow,et al.  A nuclear lamin is required for cytoplasmic organization and egg polarity in Drosophila , 2001, Nature Cell Biology.

[31]  C. Stewart,et al.  Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. , 2001, Journal of cell science.

[32]  J. V. van Deursen,et al.  Disruption of the FG nucleoporin NUP98 causes selective changes in nuclear pore complex stoichiometry and function , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[33]  H. Worman,et al.  Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. , 2001, Journal of cell science.

[34]  N. van Bruggen,et al.  Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[35]  M. Reitman,et al.  Characterization of adiposity and metabolism in Lmna-deficient mice. , 2002, Biochemical and Biophysical Research Communications - BBRC.

[36]  G. Scarano,et al.  Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. , 2002, American journal of human genetics.

[37]  B. Chait,et al.  Proteomic analysis of the mammalian nuclear pore complex , 2002, The Journal of cell biology.

[38]  S. Shoelson,et al.  Structure of the Globular Tail of Nuclear Lamin* , 2002, The Journal of Biological Chemistry.

[39]  D. E. Olins,et al.  Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger–Huët anomaly) , 2002, Nature Genetics.

[40]  S. Zinn-Justin,et al.  The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy. , 2002, Structure.

[41]  C. López-Otín,et al.  Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase–deficient mice , 2002, Nature Genetics.

[42]  C. Stewart,et al.  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. , 2002, American journal of human genetics.

[43]  Laura Scott,et al.  Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome , 2003, Nature.

[44]  P. S. Klein,et al.  SANE, a Novel LEM Domain Protein, Regulates Bone Morphogenetic Protein Signaling through Interaction with Smad1* , 2003, The Journal of Biological Chemistry.

[45]  Pierre Cau,et al.  Lamin A Truncation in Hutchinson-Gilford Progeria , 2003, Science.

[46]  John R Yates,et al.  Nuclear Membrane Proteins with Potential Disease Links Found by Subtractive Proteomics , 2003, Science.

[47]  D. E. Olins,et al.  Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly. , 2003, Human molecular genetics.

[48]  H. Waterham,et al.  Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene , 2003 .

[49]  M. Taira,et al.  XMAN1, an inner nuclear membrane protein, antagonizes BMP signaling by interacting with Smad1 in Xenopus embryos , 2003, Development.

[50]  J. Cronshaw,et al.  The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[51]  William T Dauer,et al.  Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[52]  M. Bergo,et al.  Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[53]  X. Breakefield,et al.  TorsinA in the nuclear envelope. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[54]  H. Paulson,et al.  Aberrant Cellular Behavior of Mutant TorsinA Implicates Nuclear Envelope Dysfunction in DYT1 Dystonia , 2004, The Journal of Neuroscience.

[55]  M. Bergo,et al.  Lamin B1 is required for mouse development and nuclear integrity. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[56]  Philippe Debeer,et al.  Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis , 2004, Nature Genetics.

[57]  Richard T. Lee,et al.  Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. , 2004, The Journal of clinical investigation.

[58]  L. Wallrath,et al.  Molecular Genetic Analysis of the Nested Drosophila melanogaster Lamin C Gene , 2005, Genetics.

[59]  K. Furukawa,et al.  Null mutants of Drosophila B-type lamin Dm(0) show aberrant tissue differentiation rather than obvious nuclear shape distortion or specific defects during cell proliferation. , 2005, Developmental biology.

[60]  W. Dauer,et al.  Loss of the Dystonia-Associated Protein TorsinA Selectively Disrupts the Neuronal Nuclear Envelope , 2005, Neuron.

[61]  H. Crijns,et al.  A-type lamins are essential for TGF-beta1 induced PP2A to dephosphorylate transcription factors. , 2005, Human molecular genetics.

[62]  Jun He,et al.  The Integral Inner Nuclear Membrane Protein MAN1 Physically Interacts with the R-Smad Proteins to Repress Signaling by the Transforming Growth Factor-β Superfamily of Cytokines* , 2005, Journal of Biological Chemistry.

[63]  C. López-Otín,et al.  Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. , 2005, Human molecular genetics.

[64]  L. Mestroni,et al.  Thymopoietin (lamina‐associated polypeptide 2) gene mutation associated with dilated cardiomyopathy , 2005, Human mutation.

[65]  W. Dauer,et al.  The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein , 2005, The Journal of cell biology.

[66]  Wei Wu,et al.  MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling. , 2005, Human molecular genetics.

[67]  M. Gelb,et al.  Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[68]  S. Young,et al.  Man1, an inner nuclear membrane protein, regulates vascular remodeling by modulating transforming growth factor β signaling , 2006 .

[69]  Juliet A. Ellis,et al.  The inner nuclear membrane protein Emerin regulates β‐catenin activity by restricting its accumulation in the nucleus , 2006, The EMBO journal.

[70]  D. Levy,et al.  The nucleoporin Nup96 is required for proper expression of interferon-regulated proteins and functions. , 2006, Immunity.

[71]  H. Worman,et al.  Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy. , 2006, Human molecular genetics.

[72]  F. Piano,et al.  Nucleoporins NPP-1, NPP-3, NPP-4, NPP-11 and NPP-13 are required for proper spindle orientation in C. elegans. , 2006, Developmental biology.

[73]  Richard T. Lee,et al.  Prelamin A and lamin A appear to be dispensable in the nuclear lamina. , 2006, The Journal of clinical investigation.

[74]  Stephen G Young,et al.  A Protein Farnesyltransferase Inhibitor Ameliorates Disease in a Mouse Model of Progeria , 2006, Science.

[75]  R. Schiffmann,et al.  Lamin B1 duplications cause autosomal dominant leukodystrophy , 2006, Nature Genetics.

[76]  C. Walsh,et al.  Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis , 2006, Annals of neurology.

[77]  I. Nonaka,et al.  Emerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles. , 2006, The American journal of pathology.

[78]  M. Bergo,et al.  A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation. , 2006, The Journal of clinical investigation.

[79]  E. Hoffman,et al.  Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration. , 2006, Human molecular genetics.

[80]  R. Hegele,et al.  Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. , 2006, American journal of human genetics.

[81]  C. Stewart,et al.  Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. , 2006, Human molecular genetics.

[82]  R. Shiekhattar,et al.  The human Nup107–160 nuclear pore subcomplex contributes to proper kinetochore functions , 2007, The EMBO journal.

[83]  Paul Pavlidis,et al.  Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. , 2007, The Journal of clinical investigation.

[84]  Hisato Kondoh,et al.  Triggering neural differentiation of ES cells by subtype switching of importin-α , 2007, Nature Cell Biology.

[85]  G. Wang,et al.  NUP98–NSD1 links H3K36 methylation to Hox-A gene activation and leukaemogenesis , 2007, Nature Cell Biology.

[86]  Yiider Tseng,et al.  Nuclear lamin A/C deficiency induces defects in cell mechanics, polarization, and migration. , 2007, Biophysical journal.

[87]  R. Foisner,et al.  Nucleoplasmic LAP2α–lamin A complexes are required to maintain a proliferative state in human fibroblasts , 2007, The Journal of cell biology.

[88]  R. Vallee,et al.  Dual subcellular roles for LIS1 and dynein in radial neuronal migration in live brain tissue , 2007, Nature Neuroscience.

[89]  Juliet A. Ellis,et al.  Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. , 2007, Human molecular genetics.

[90]  C. Stewart,et al.  The nuclear envelope protein MAN1 regulates TGFβ signaling and vasculogenesis in the embryonic yolk sac , 2007, Development.

[91]  J. Sanes,et al.  Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia , 2007, Nature Genetics.

[92]  I. Varela,et al.  Nuclear envelope defects cause stem cell dysfunction in premature-aging mice , 2008, The Journal of cell biology.

[93]  D. Levy,et al.  Nucleoporin levels regulate cell cycle progression and phase-specific gene expression. , 2008, Developmental cell.

[94]  A. Noegel,et al.  Nesprin-2 Giant (NUANCE) maintains nuclear envelope architecture and composition in skin , 2008, Journal of Cell Science.

[95]  S. Young,et al.  Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated. , 2008, The Journal of clinical investigation.

[96]  K. Anderson,et al.  Nuclear pore composition regulates neural stem/progenitor cell differentiation in the mouse embryo. , 2008, Developmental cell.

[97]  A. Sonnenberg,et al.  TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton , 2008, Journal of Cell Science.

[98]  Richard T. Lee,et al.  Increased mechanosensitivity and nuclear stiffness in Hutchinson–Gilford progeria cells: effects of farnesyltransferase inhibitors , 2008, Aging cell.

[99]  T. Misteli,et al.  Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing , 2008, Nature Cell Biology.

[100]  C. Stewart,et al.  The lamin B receptor under transcriptional control of C/EBPepsilon is required for morphological but not functional maturation of neutrophils. , 2008, Human molecular genetics.

[101]  L. Wallrath,et al.  Tissue-Specific Defects Are Caused by Loss of the Drosophila MAN1 LEM Domain Protein , 2008, Genetics.

[102]  T. Ke,et al.  Mutation in Nuclear Pore Component NUP155 Leads to Atrial Fibrillation and Early Sudden Cardiac Death , 2008, Cell.

[103]  A. Ishimura,et al.  Man1, an inner nuclear membrane protein, regulates left–right axis formation by controlling nodal signaling in a node‐independent manner , 2008, Developmental dynamics : an official publication of the American Association of Anatomists.

[104]  M. Hetzer,et al.  Border control at the nucleus: biogenesis and organization of the nuclear membrane and pore complexes. , 2009, Developmental cell.

[105]  Ying-Hui Fu,et al.  miR-23 regulation of lamin B1 is crucial for oligodendrocyte development and myelination , 2009, Disease Models & Mechanisms.

[106]  B. Burke,et al.  Nuclei take a position: managing nuclear location. , 2009, Developmental cell.

[107]  J. Melki,et al.  Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. , 2009, Human molecular genetics.

[108]  M. Adams,et al.  Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. , 2009, American journal of human genetics.

[109]  S. Lehnart,et al.  Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins. , 2008, Human molecular genetics.