Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
about
Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiationAffixin activates Rac1 via betaPIX in C2C12 myoblastReduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathwayOTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscleFilamin 2 (FLN2): A muscle-specific sarcoglycan interacting proteinCargos and genes: insights into vesicular transport from inherited human diseaseA mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathyFerlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repairHomologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transferLack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathyEfficient and reproducible myogenic differentiation from human iPS cells: prospects for modeling Miyoshi Myopathy in vitroDysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair.Dysferlin-peptides reallocate mutated dysferlin thereby restoring functionAnnexin-A5 assembled into two-dimensional arrays promotes cell membrane repairCrystal structures of the human Dysferlin inner DysF domainMorphogenetic pathway of spore wall assembly in Saccharomyces cerevisiaeThe Dysferlin Domain-Only Protein, Spo73, Is Required for Prospore Membrane Extension in Saccharomyces cerevisiaeADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathyDefective membrane repair in dysferlin-deficient muscular dystrophyCharacterisation of the dysferlin skeletal muscle promoterCaveolin regulates endocytosis of the muscle repair protein, dysferlinMembrane damage-induced vesicle-vesicle fusion of dysferlin-containing vesicles in muscle cells requires microtubules and kinesin.Quantitation of the calcium and membrane binding properties of the C2 domains of dysferlinCharacterization of dysferlin deficient SJL/J mice to assess preclinical drug efficacy: fasudil exacerbates muscle disease phenotypeA rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesisTrophoblast cell fusion and differentiation are mediated by both the protein kinase C and a pathwaysActinin-associated LIM protein-deficient mice maintain normal development and structure of skeletal muscleEndocytic recycling proteins EHD1 and EHD2 interact with fer-1-like-5 (Fer1L5) and mediate myoblast fusionMembrane wounding triggers ATP release and dysferlin-mediated intercellular calcium signalingDysferlin mutations and mitochondrial dysfunctionDysferlin quantification in monocytes for rapid screening for dysferlinopathiesDistal myopathies: from clinical classification to molecular understanding.[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonanceMembrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression.Bone marrow transplantation in dysferlin-deficient mice results in a mild functional improvement.Duplication in the microtubule-actin cross-linking factor 1 gene causes a novel neuromuscular condition.Dysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion.
P2860
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P2860
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
description
1998 nî lūn-bûn
@nan
1998 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Dysferlin, a novel skeletal mu ...... limb girdle muscular dystrophy
@ast
Dysferlin, a novel skeletal mu ...... limb girdle muscular dystrophy
@en
Dysferlin, a novel skeletal mu ...... limb girdle muscular dystrophy
@nl
type
label
Dysferlin, a novel skeletal mu ...... limb girdle muscular dystrophy
@ast
Dysferlin, a novel skeletal mu ...... limb girdle muscular dystrophy
@en
Dysferlin, a novel skeletal mu ...... limb girdle muscular dystrophy
@nl
prefLabel
Dysferlin, a novel skeletal mu ...... limb girdle muscular dystrophy
@ast
Dysferlin, a novel skeletal mu ...... limb girdle muscular dystrophy
@en
Dysferlin, a novel skeletal mu ...... limb girdle muscular dystrophy
@nl
P2093
P3181
P356
P1433
P1476
Dysferlin, a novel skeletal mu ...... limb girdle muscular dystrophy
@en
P2093
B A Hosler
D McKenna-Yasek
E J Culper
J A Urtizberea
P2888
P3181
P356
10.1038/1682
P407
P577
1998-09-01T00:00:00Z