The Emery-Dreifuss Muscular Dystrophy Protein, Emerin, is a Nuclear Membrane Protein, Hum. Mol. Genet, vol.5, pp.801-808, 1996. ,
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy, Nat. Genet, vol.12, pp.254-259, 1996. ,
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy, Nat. Genet, vol.8, p.323, 1994. ,
The molecular basis of emerin-emerin and emerin-BAF interactions, J. Cell Sci, vol.127, pp.3956-3969, 2014. ,
Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy, FEBS Lett, vol.501, pp.171-176, 2001. ,
The nuclear envelope LEM-domain protein emerin, Nucleus, vol.4, pp.298-314, 2013. ,
Multiple roles for emerin: Implications for Emery-Dreifuss muscular dystrophy, Anat. Rec. A. Discov. Mol. Cell. Evol. Biol, vol.288, pp.676-680, 2006. ,
, , 2019.
Emery-Dreifuss Muscular Dystrophy, GeneReviews ® ,
URL : https://hal.archives-ouvertes.fr/inserm-00826557
, , 1993.
Prelamin A processing and heterochromatin dynamics in laminopathies, Adv. Enzyme Regul, vol.47, pp.154-167, 2007. ,
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution, Cell Cycle, vol.11, pp.3568-3577, 2012. ,
Expression Profiling of Differentiating Emerin-Null Myogenic Progenitor Identifies Molecular Pathways Implicated in Their Impaired Differentiation, vol.6, 2017. ,
MAPK signaling pathways and HDAC3 activity are disrupted during differentiation of emerin-null myogenic progenitor cells, Dis. Model. Mech, vol.10, pp.385-397, 2017. ,
Loss of Emerin Alters Myogenic Signaling and miRNA Expression in Mouse Myogenic Progenitors, PLoS ONE, vol.7, 2012. ,
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, vol.16, pp.1884-1895, 2007. ,
The inner nuclear membrane protein Emerin regulates ?-catenin activity by restricting its accumulation in the nucleus, EMBO J, vol.25, pp.3275-3285, 2006. ,
Attenuation of Wnt/?-catenin activity reverses enhanced generation of cardiomyocytes and cardiac defects caused by the loss of emerin, Hum. Mol. Genet, vol.24, pp.802-813, 2015. ,
A novel role for the nuclear membrane protein emerin in association of the centrosome to the outer nuclear membrane, J. Cell Biol, vol.178, pp.897-904, 2007. ,
Isolated nuclei adapt to force and reveal a mechanotransduction pathway in the nucleus, Nat. Cell Biol, vol.16, pp.376-381, 2014. ,
Mechanical regulation of transcription controls Polycomb-mediated gene silencing during lineage commitment, Nat. Cell Biol, vol.18, pp.864-875, 2016. ,
Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF, J. Cell Sci, vol.114, pp.4567-4573, 2001. ,
Emerin Caps the Pointed End of Actin Filaments: Evidence for an Actin Cortical Network at the Nuclear Inner Membrane, PLoS Biol, 2004. ,
Emerin modulates spatial organization of chromosome territories in cells on softer matrices, Nucleic Acids Res, vol.46, pp.5561-5586, 2018. ,
142: A new EMD gene missense mutation in exon 1 leads to absence of emerin and is responsible for X-linked dilated cardiomyopathy with conduction defects and arrhythmias and almost elusive skeletal muscle features, Neuromuscul. Disord, vol.24, pp.843-844, 2014. ,
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism, vol.68, pp.1883-1894, 2007. ,
X-Linked Nonsyndromic Sinus Node Dysfunction and Atrial Fibrillation Caused by Emerin Mutation, J. Cardiovasc. Electrophysiol, vol.19, pp.510-515, 2008. ,
Emerin self-assembly mechanism: Role of the LEM domain, FEBS J, vol.284, pp.338-352, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01450728
Solution NMR Structure of the Barrier-to-Autointegration Factor-Emerin Complex, J. Biol. Chem, vol.282, pp.14525-14535, 2007. ,
Structural basis for DNA bridging by barrier-to-autointegration factor, Nat. Struct. Mol. Biol, vol.12, pp.935-936, 2005. ,
Dynamic interaction between BAF and emerin revealed by FRAP, FLIP, and FRET analyses in living HeLa cells, J. Struct. Biol, vol.147, pp.31-41, 2004. ,
Transcriptional Repressor Germ Cell-less (GCL) and Barrier to Autointegration Factor (BAF) Compete for Binding to Emerin in Vitro, J. Biol. Chem, vol.278, pp.6969-6975, 2003. ,
Structural analysis of the ternary complex between lamin A/C, BAF and emerin identifies an interface disrupted in autosomal recessive progeroid diseases, Nucleic Acids Res, vol.46, pp.10460-10473, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-02343191
Loss of A-Type Lamin Expression Compromises Nuclear Envelope Integrity Leading to Muscular Dystrophy, J. Cell Biol, vol.147, pp.913-919, 1999. ,
Emerin Is Required for Proper Nucleus Reassembly after Mitosis: Implications for New Pathogenetic Mechanisms for Laminopathies Detected in EDMD1 Patients, Cells, vol.8, p.240, 2019. ,
Muscular Dystrophy Mutations Impair the Nuclear Envelope Emerin Self-assembly Properties, ACS Chem. Biol, vol.10, pp.2733-2742, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-01432162
Networking in the nucleus: A spotlight on LEM-domain proteins, Curr. Opin. Cell Biol, vol.34, pp.1-8, 2015. ,
Barrier-to-autointegration factor (BAF) bridges DNA in a discrete, higher-order nucleoprotein complex, Proc. Natl. Acad. Sci, vol.97, pp.8997-9002, 2000. ,
Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes, J. Biol. Chem, vol.285, pp.3487-3498, 2010. ,
Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics, Nature, vol.497, pp.507-511, 2013. ,
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression, Hum. Mol. Genet, vol.7, pp.855-864, 1998. ,
Barrier-to-Autointegration Factor Proteome Reveals Chromatin-Regulatory Partners, PLoS ONE, vol.4, p.7050, 2009. ,
The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane, J. Cell Sci, vol.112, pp.2571-2582, 1999. ,
X-linked emery-dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample, Ann. Neurol, vol.42, pp.249-253, 1997. ,
Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype, Neuromuscul. Disord, vol.9, pp.159-165, 1999. ,
,
, Zh. Nevrol. Psikhiatr. Im S S Korsakova, vol.106, pp.58-65, 2006.
Identification of essential genes in cultured mammalian cells using small interfering RNAs, J. Cell Sci, vol.114, pp.4557-4565, 2001. ,
Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene, Exp. Cell Res, vol.291, pp.352-362, 2003. ,
Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells, J. Cell Biol, vol.170, pp.781-791, 2005. ,
Dorsal stress fibers, transverse actin arcs, and perinuclear actin fibers form an interconnected network that induces nuclear movement in polarizing fibroblasts, FEBS J, vol.283, pp.3676-3693, 2016. ,
Super-resolution microscopy reveals LINC complex recruitment at nuclear indentation sites, Sci. Rep, 2014. ,
Opposing roles for distinct LINC complexes in regulation of the small GTPase RhoA, Mol. Biol. Cell, vol.28, 2017. ,
Inner nuclear envelope proteins SUN1 and SUN2 play a prominent role in the DNA damage response, Curr. Biol. CB, vol.22, pp.1609-1615, 2012. ,
Suppression of SUN2 by DNA methylation is associated with HSCs activation and hepatic fibrosis, Cell Death Dis, vol.9, 1021. ,
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