Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12 - Test2 - elhamkhani - TriplyDB

Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12

Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12

http://www.wikidata.org/entity/Q24312878

about

Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells Desmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desmin Sarcoglycan subcomplex expression in normal human smooth muscle 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 Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.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.Sarcospan-deficient mice maintain normal muscle function myotilin Mutation found in second pedigree with LGMD1A Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation 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 Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations Multiple PEX genes are required for proper subcellular distribution and stability of Pex5p, the PTS1 receptor: evidence that PTS1 protein import is mediated by a cycling receptor Molecular organization of sarcoglycan complex in mouse myotubes in culture Analysis of human sarcospan as a candidate gene for CFEOM1 Muscle regeneration in dystrophin-deficient mdx mice studied by gene expression profiling Genetic Engineering of Dystroglycan in Animal Models of Muscular Dystrophy Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy Sarcoglycan isoforms in skeletal muscle Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes Mutations in the caveolin-3 gene: When are they pathogenic?Localization of sarcoglycan, neuronal nitric oxide synthase, beta-dystroglycan, and dystrophin molecules in normal skeletal myofiber: triple immunogold labeling electron microscopy Dystrophin-glycoprotein complex and Ras and Rho GTPase signaling are altered in muscle atrophy Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.How the magnitude of clinical severity and recurrence risk affects reproductive decisions in adult males with different forms of progressive muscular dystrophy.Making sense of the limb-girdle muscular dystrophies.Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex Investigation of muscle disease.Limb-girdle Muscular Dystrophies in India: A Review.

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Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12

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1995 nî lūn-bûn

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1995 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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1995年の論文

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Sarcoglycan beta