Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A - Wikidata - awgldk - TriplyDB

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

http://www.wikidata.org/entity/Q24314667

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Myc-nick: a cytoplasmic cleavage product of Myc that promotes alpha-tubulin acetylation and cell differentiation Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release Autolytic activity of human calpain 7 is enhanced by ESCRT-III-related protein IST1 through MIT-MIM interaction A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-κB pathway in skeletal muscle Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12 Novel variants of muscle calpain 3 identified in human melanoma cells: cisplatin-induced changes in vitro and differential expression in melanocytic lesions Multiple molecular interactions implicate the connectin/titin N2A region as a modulating scaffold for p94/calpain 3 activity in skeletal muscle Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue Structure and physiological function of calpains Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle myotilin Mutation found in second pedigree with LGMD1A Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein Candidate-gene testing for orphan limb-girdle muscular dystrophies The pathogenic activation of calpain: a marker and mediator of cellular toxicity and disease states The mouse and human genes encoding the recognition component of the N-end rule pathway Distinctive patterns of microRNA expression in primary muscular disorders Sorting of a nonmuscle tropomyosin to a novel cytoskeletal compartment in skeletal muscle results in muscular dystrophy DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12 Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins Cysteine proteases as therapeutic targets: does selectivity matter? A systematic review of calpain and cathepsin inhibitors Pharmacology of manipulating lean body mass Ca2+-dependent regulations and signaling in skeletal muscle: from electro-mechanical coupling to adaptation The atypical calpains: evolutionary analyses and roles in Caenorhabditis elegans cellular degeneration Calpains mediate integrin attachment complex maintenance of adult muscle in Caenorhabditis elegans Development of calpain-specific inactivators by screening of positional scanning epoxide libraries Crystal structure of calpain-3 penta-EF-hand (PEF) domain - a homodimerized PEF family member with calcium bound at the fifth EF-hand Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin Association of neuronal nitric oxide synthase (nNOS) with alpha1-syntrophin at the sarcolemma Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy Skeletal muscle-specific calpain is an intracellular Na+-dependent protease Disruption of the murine calpain small subunit gene, Capn4: calpain is essential for embryonic development but not for cell growth and division Down-regulation of MyoD by calpain 3 promotes generation of reserve cells in C2C12 myoblasts Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD)

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P2860

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

http://www.wikidata.org/entity/Q24314667

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1995 nî lūn-bûn

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1995 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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1995 թվականի ապրիլին հրատարակված գիտական հոդված

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1995年の論文

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1995年論文

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1995年論文

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1995年論文

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1995年論文

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1995年論文

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1995年论文

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Mutations in the proteolytic e ...... dle muscular dystrophy type 2A

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Mutations in the proteolytic e ...... dle muscular dystrophy type 2A

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