Emd

Summary

Gene Symbol: Emd
Description: emerin
Alias: AW550900, Sta, emerin
Species: mouse
Products:     Emd

Top Publications

  1. Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994;8:323-7 pubmed
    ..The EDMD gene encodes a novel serine-rich protein termed emerin, which contains a 20 amino acid hydrophobic domain at the C terminus, similar to that described for many membrane ..
  2. Ozawa R, Hayashi Y, Ogawa M, Kurokawa R, Matsumoto H, Noguchi S, et al. Emerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles. Am J Pathol. 2006;168:907-17 pubmed
    ..recessive form is caused by mutation in the EMD gene encoding an integral protein of the inner nuclear membrane, emerin. In this study, mutant mice lacking emerin were produced by insertion of a neomycin resistance gene into exon 6 of ..
  3. Demmerle J, Koch A, Holaska J. Emerin and histone deacetylase 3 (HDAC3) cooperatively regulate expression and nuclear positions of MyoD, Myf5, and Pax7 genes during myogenesis. Chromosome Res. 2013;21:765-79 pubmed publisher
    ..The inner nuclear membrane protein emerin has been implicated in regulating global chromatin architecture...
  4. Ho C, Jaalouk D, Vartiainen M, Lammerding J. Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics. Nature. 2013;497:507-11 pubmed publisher
    ..Ectopic expression of the nuclear envelope protein emerin, which is mislocalized in Lmna mutant cells and also linked to EDMD and DCM, restored MKL1 nuclear translocation ..
  5. Holt I, Ostlund C, Stewart C, Man N, Worman H, Morris G. Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo. J Cell Sci. 2003;116:3027-35 pubmed
    ..studied the effects of nine pathogenic mutations on the ability of lamin A to assemble normally and to localize emerin normally at the nuclear rim...
  6. Melcon G, Kozlov S, Cutler D, Sullivan T, Hernandez L, Zhao P, et al. Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration. Hum Mol Genet. 2006;15:637-51 pubmed
    Emery-Dreifuss muscular dystrophy (EDMD1) is caused by mutations in either the X-linked gene emerin (EMD) or the autosomal lamin A/C (LMNA) gene...
  7. Huber M, Guan T, Gerace L. Overlapping functions of nuclear envelope proteins NET25 (Lem2) and emerin in regulation of extracellular signal-regulated kinase signaling in myoblast differentiation. Mol Cell Biol. 2009;29:5718-28 pubmed publisher
    ..NET25 and MAN1 share an approximately 40-residue LEM homology domain with emerin, the protein mutated in X-linked Emery-Dreifuss muscular dystrophy...
  8. Koch A, Holaska J. Loss of emerin alters myogenic signaling and miRNA expression in mouse myogenic progenitors. PLoS ONE. 2012;7:e37262 pubmed publisher
    b>Emerin is an integral membrane protein of the inner nuclear membrane. Mutations in emerin cause X-linked Emery-Dreifuss muscular dystrophy (EDMD), a disease characterized by skeletal muscle wasting and dilated cardiomyopathy...
  9. Lammerding J, Hsiao J, Schulze P, Kozlov S, Stewart C, Lee R. Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells. J Cell Biol. 2005;170:781-91 pubmed
    Emery-Dreifuss muscular dystrophy can be caused by mutations in the nuclear envelope proteins lamin A/C and emerin. We recently demonstrated that A-type lamin-deficient cells have impaired nuclear mechanics and altered mechanotransduction,..

More Information

Publications36

  1. Rowat A, Lammerding J, Ipsen J. Mechanical properties of the cell nucleus and the effect of emerin deficiency. Biophys J. 2006;91:4649-64 pubmed
    ..envelope stability in disease and found that mouse embryo fibroblasts lacking the inner nuclear membrane protein, emerin, had a significantly decreased ratio of the area expansion to shear moduli (K/mu) compared to wild-type cells (2...
  2. Demmerle J, Koch A, Holaska J. The nuclear envelope protein emerin binds directly to histone deacetylase 3 (HDAC3) and activates HDAC3 activity. J Biol Chem. 2012;287:22080-8 pubmed publisher
    ..Here we show that emerin binds directly to HDAC3, the catalytic subunit of the nuclear co-repressor (NCoR) complex, and recruits HDAC3 to ..
  3. Muchir A, Pavlidis P, Bonne G, Hayashi Y, Worman H. Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy. Hum Mol Genet. 2007;16:1884-95 pubmed
    ..Mutations in EMD, encoding emerin, and LMNA, encoding A-type lamins, respectively, cause X-linked and autosomal dominant EDMD...
  4. Dedeic Z, Cetera M, Cohen T, Holaska J. Emerin inhibits Lmo7 binding to the Pax3 and MyoD promoters and expression of myoblast proliferation genes. J Cell Sci. 2011;124:1691-702 pubmed publisher
    X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) is caused by mutations in the inner nuclear membrane protein emerin. Previous studies have shown that emerin binds to and inhibits the activity of LIM domain only 7 (Lmo7), a ..
  5. Muchir A, Wu W, Worman H. Reduced expression of A-type lamins and emerin activates extracellular signal-regulated kinase in cultured cells. Biochim Biophys Acta. 2009;1792:75-81 pubmed publisher
    Mutations in genes encoding A-type lamins and emerin cause cardiomyopathy and muscular dystrophy...
  6. Haque F, Mazzeo D, Patel J, Smallwood D, Ellis J, Shanahan C, et al. Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes. J Biol Chem. 2010;285:3487-98 pubmed publisher
    ..Here, we identify emerin and short nesprin-2 isoforms as novel nucleoplasmic binding partners of SUN1/2...
  7. Borrego Pinto J, Jegou T, Osorio D, Aurade F, Gorjanacz M, Koch B, et al. Samp1 is a component of TAN lines and is required for nuclear movement. J Cell Sci. 2012;125:1099-105 pubmed publisher
    ..These results support a role for Samp1 in the association between the LINC complex and lamins during nuclear movement. ..
  8. Nili E, Cojocaru G, Kalma Y, Ginsberg D, Copeland N, Gilbert D, et al. Nuclear membrane protein LAP2beta mediates transcriptional repression alone and together with its binding partner GCL (germ-cell-less). J Cell Sci. 2001;114:3297-307 pubmed
    ..Co-expression of both LAP2beta and mGCL with the E2F-DP complex resulted in a reduced transcriptional activity equal to that exerted by the pRb protein. ..
  9. Solovei I, Wang A, Thanisch K, Schmidt C, Krebs S, Zwerger M, et al. LBR and lamin A/C sequentially tether peripheral heterochromatin and inversely regulate differentiation. Cell. 2013;152:584-98 pubmed publisher
    ..These results show how changes in NE composition contribute to regulating heterochromatin positioning, gene expression, and cellular differentiation during development...
  10. Willer M, Carroll C. Substrate stiffness-dependent regulation of the SRF-Mkl1 co-activator complex requires the inner nuclear membrane protein Emerin. J Cell Sci. 2017;130:2111-2118 pubmed publisher
    ..Here, we demonstrate that the nuclear lamina-associated inner nuclear membrane protein Emerin stimulates SRF-Mkl1-dependent gene activity in a substrate stiffness-dependent manner...
  11. Small K, Wagener M, Warren S. Isolation and characterization of the complete mouse emerin gene. Mamm Genome. 1997;8:337-41 pubmed
    ..The responsible emerin gene has recently been identified and found to encode a serine-rich protein similar to lamina-associated protein 2 ..
  12. 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
    ..program was associated with marked changes in the expression of nuclear beta-catenin-interacting partners, emerin and lamins A/C, to influence expression and activation of peroxisome proliferators-activated receptors gamma (..
  13. Bengtsson L, Otto H. LUMA interacts with emerin and influences its distribution at the inner nuclear membrane. J Cell Sci. 2008;121:536-48 pubmed publisher
    ..Furthermore, it interacts with emerin. Both downregulation of LUMA and overexpression of dominant-negative acting LUMA fragments causes redistribution ..
  14. Wheeler M, Warley A, Roberts R, Ehler E, Ellis J. Identification of an emerin-beta-catenin complex in the heart important for intercalated disc architecture and beta-catenin localisation. Cell Mol Life Sci. 2010;67:781-96 pubmed publisher
    How mutations in the protein emerin lead to the cardiomyopathy associated with X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) is unclear...
  15. Rivella S, Tamanini F, Bione S, Mancini M, Herman G, Chatterjee A, et al. A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes. Genomics. 1995;28:377-82 pubmed
    ..The very high conservation that we have described suggests that a potent selective pressure has contributed to such conservation of gene organization. ..
  16. Kim C, Perez A, Perkins G, Ellisman M, Dauer W. A molecular mechanism underlying the neural-specific defect in torsinA mutant mice. Proc Natl Acad Sci U S A. 2010;107:9861-6 pubmed publisher
  17. Stubenvoll A, Rice M, Wietelmann A, Wheeler M, Braun T. Attenuation of Wnt/β-catenin activity reverses enhanced generation of cardiomyocytes and cardiac defects caused by the loss of emerin. Hum Mol Genet. 2015;24:802-13 pubmed publisher
    Mutations in EMD, encoding emerin cause skeletal muscle and heart defects in patients with X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) but the underlying mechanisms leading to cardiac defects are poorly understood...
  18. Smith E, Meng Y, Moore R, Tse J, Xu A, Xu X. Nuclear envelope structural proteins facilitate nuclear shape changes accompanying embryonic differentiation and fidelity of gene expression. BMC Cell Biol. 2017;18:8 pubmed publisher
    ..ES cells genetically null for the nuclear lamina proteins lamin A/C or the inner nuclear envelope protein emerin, or compound mutant for both lamin A/C and emerin...
  19. Gorelik A, Sapir T, Haffner Krausz R, Olender T, Woodruff T, Reiner O. Developmental activities of the complement pathway in migrating neurons. Nat Commun. 2017;8:15096 pubmed publisher
    ..Pharmacological activation of the downstream receptors rescue Masp2 and C3 knockdown as well as C3 knockout. Therefore, we propose that the complement pathway is functionally important in migrating neurons of the developing cortex. ..
  20. Stroud M, Feng W, Zhang J, Veevers J, Fang X, Gerace L, et al. Nesprin 1α2 is essential for mouse postnatal viability and nuclear positioning in skeletal muscle. J Cell Biol. 2017;216:1915-1924 pubmed publisher
    ..Furthermore, we revealed that kinesin 1 was displaced in fibers of nesprin 1α2-knockout mice, suggesting that this interaction may play an important role in positioning of myonuclei and functional skeletal muscle. ..
  21. Tifft K, Bradbury K, Wilson K. Tyrosine phosphorylation of nuclear-membrane protein emerin by Src, Abl and other kinases. J Cell Sci. 2009;122:3780-90 pubmed publisher
    X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD) is caused by loss of emerin, a nuclear-membrane protein with roles in nuclear architecture, gene regulation and signaling...
  22. Kim Y, Sharov A, McDole K, Cheng M, Hao H, Fan C, et al. Mouse B-type lamins are required for proper organogenesis but not by embryonic stem cells. Science. 2011;334:1706-10 pubmed publisher
    ..Thus, our studies not only disprove several prevailing views of lamin-Bs but also establish a foundation for redefining the function of the nuclear lamina in the context of tissue building and homeostasis...
  23. Heydemann A, Demonbreun A, Hadhazy M, Earley J, McNally E. Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes. Hum Mol Genet. 2007;16:355-63 pubmed
    ..Additionally, the nuclear-membrane-associated proteins, lamin A/C and emerin, were mislocalized throughout the nucleoplasm...
  24. Chang W, Folker E, Worman H, Gundersen G. Emerin organizes actin flow for nuclear movement and centrosome orientation in migrating fibroblasts. Mol Biol Cell. 2013;24:3869-80 pubmed publisher
    ..A-type lamins anchor TAN lines, prompting us to test whether emerin, a nuclear membrane protein that interacts with lamins and TAN line proteins, contributes to nuclear movement...
  25. Mulky A, Cohen T, Kozlov S, Korbei B, Foisner R, Stewart C, et al. The LEM domain proteins emerin and LAP2alpha are dispensable for human immunodeficiency virus type 1 and murine leukemia virus infections. J Virol. 2008;82:5860-8 pubmed publisher
    The human nuclear envelope proteins emerin and lamina-associated polypeptide 2alpha (LAP2alpha) have been proposed to aid in the early replication steps of human immunodeficiency virus type 1 (HIV-1) and murine leukemia virus (MLV)...
  26. Lattanzi G, Cenni V, Marmiroli S, Capanni C, Mattioli E, Merlini L, et al. Association of emerin with nuclear and cytoplasmic actin is regulated in differentiating myoblasts. Biochem Biophys Res Commun. 2003;303:764-70 pubmed
    b>Emerin is a nuclear envelope protein whose biological function remains to be elucidated. Mutations of emerin gene cause the Emery-Dreifuss muscular dystrophy, a neuromuscular disorder also linked to mutations of lamin A/C...
  27. Collins C, Ellis J, Holaska J. MAPK signaling pathways and HDAC3 activity are disrupted during differentiation of emerin-null myogenic progenitor cells. Dis Model Mech. 2017;10:385-397 pubmed publisher
    Mutations in the gene encoding emerin cause Emery-Dreifuss muscular dystrophy (EDMD). Emerin is an integral inner nuclear membrane protein and a component of the nuclear lamina...