Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
about
MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerinSyne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junctionEmerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membraneMutations in the integrin alpha7 gene cause congenital myopathyLINC complex alterations in DMD and EDMD/CMT fibroblastsDetergent-salt resistance of LAP2alpha in interphase nuclei and phosphorylation-dependent association with chromosomes early in nuclear assembly implies functions in nuclear structure dynamics.Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.The inner nuclear membrane: simple, or very complex?Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophyLoss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophyThe nuclear envelope LEM-domain protein emerinThe nuclear envelope: an intriguing focal point for neurogenetic diseaseStructural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophySolution structure of the constant region of nuclear envelope protein LAP2 reveals two LEM-domain structures: one binds BAF and the other binds DNASolution NMR structure of the barrier-to-autointegration factor-Emerin complexLamina-associated polypeptide 1: protein interactions and tissue-selective functionsThe nuclear envelope in muscular dystrophy and cardiovascular diseasesLife at the edge: the nuclear envelope and human diseaseTranscriptional repressor germ cell-less (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitroLaminopathies and the long strange trip from basic cell biology to therapyThe major nuclear envelope targeting domain of LAP2 coincides with its lamin binding region but is distinct from its chromatin interaction domainThe nuclear envelope at a glanceNuclear membrane dynamics and reassembly in living cells: targeting of an inner nuclear membrane protein in interphase and mitosisLoss of GATA6 leads to nuclear deformation and aneuploidy in ovarian cancer.Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy.Emerin organizes actin flow for nuclear movement and centrosome orientation in migrating fibroblasts.Identification of tyrosine-phosphorylated proteins associated with the nuclear envelope.The Emery-Dreifuss muscular dystrophy associated-protein emerin is phosphorylated on serine 49 by protein kinase A.An emerin "proteome": purification of distinct emerin-containing complexes from HeLa cells suggests molecular basis for diverse roles including gene regulation, mRNA splicing, signaling, mechanosensing, and nuclear architecture.Linker of nucleoskeleton and cytoskeleton complex proteins in cardiac structure, function, and disease.MAPK signaling pathways and HDAC3 activity are disrupted during differentiation of emerin-null myogenic progenitor cells.Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.Diseases of the nuclear envelope.Immunocytochemical analysis of human muscular dystrophy.The role of Drosophila Lamin C in muscle function and gene expressionEmerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan."Laminopathies": a wide spectrum of human diseases.Inner nuclear membrane proteins: impact on human disease.Loss of emerin alters myogenic signaling and miRNA expression in mouse myogenic progenitors.LAP2 is widely overexpressed in diverse digestive tract cancers and regulates motility of cancer cells.
P2860
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P2860
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
description
1996 nî lūn-bûn
@nan
1996 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի մարտին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Emerin deficiency at the nucle ...... ry-Dreifuss muscular dystrophy
@ast
Emerin deficiency at the nucle ...... ry-Dreifuss muscular dystrophy
@en
Emerin deficiency at the nucle ...... ry-Dreifuss muscular dystrophy
@en-gb
Emerin deficiency at the nucle ...... ry-Dreifuss muscular dystrophy
@nl
type
label
Emerin deficiency at the nucle ...... ry-Dreifuss muscular dystrophy
@ast
Emerin deficiency at the nucle ...... ry-Dreifuss muscular dystrophy
@en
Emerin deficiency at the nucle ...... ry-Dreifuss muscular dystrophy
@en-gb
Emerin deficiency at the nucle ...... ry-Dreifuss muscular dystrophy
@nl
prefLabel
Emerin deficiency at the nucle ...... ry-Dreifuss muscular dystrophy
@ast
Emerin deficiency at the nucle ...... ry-Dreifuss muscular dystrophy
@en
Emerin deficiency at the nucle ...... ry-Dreifuss muscular dystrophy
@en-gb
Emerin deficiency at the nucle ...... ry-Dreifuss muscular dystrophy
@nl
P2093
P2860
P921
P356
P1433
P1476
Emerin deficiency at the nucle ...... ry-Dreifuss muscular dystrophy
@en
P2093
T Tsukahara
Y K Hayashi
P2860
P2888
P356
10.1038/NG0396-254
P407
P577
1996-03-01T00:00:00Z
P6179
1046481756