Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D) - Wikidata - wikimedia - TriplyDB

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)

http://www.wikidata.org/entity/Q24517929

about

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.Molecular organization of sarcoglycan complex in mouse myotubes in culture Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy Making sense of the limb-girdle muscular dystrophies.Plasma membrane cytoskeleton of muscle: a fine structural analysis.Sarcoglycans in muscular dystrophy.Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina.Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects alpha-Dystroglycan is a laminin receptor involved in extracellular matrix assembly on myotubes and muscle cell viability.Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice Thin, a Trim32 ortholog, is essential for myofibril stability and is required for the integrity of the costamere in Drosophila.Inhibition of proteasome activity promotes the correct localization of disease-causing alpha-sarcoglycan mutants in HEK-293 cells constitutively expressing beta-, gamma-, and delta-sarcoglycan.Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy Designing heart performance by gene transfer.Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies.Finding the sweet spot: assembly and glycosylation of the dystrophin-associated glycoprotein complex.A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice.Concomitant alpha- and gamma-sarcoglycan deficiencies in a Turkish boy with a novel deletion in the alpha-sarcoglycan gene.Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins.Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice.LGMD2E is the most common type of sarcoglycanopathies in the Iranian population.Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for Limb Girdle Muscular Dystrophy 2D.

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Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)

http://www.wikidata.org/entity/Q24517929

description

1997 nî lūn-bûn

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1997 թուականի Յունիսին հրատարակուած գիտական յօդուած

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1997 թվականի հունիսին հրատարակված գիտական հոդված

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1997年の論文

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1997年論文

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1997年論文

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1997年論文

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1997年論文

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1997年論文

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1997年论文

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name

Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)

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Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)

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Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)

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Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)

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Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)

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Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)

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Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)

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Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)

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Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)

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Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)

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Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)

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Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)

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P1433

Journal of Medical Genetics

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Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)

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Azibi K

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Beldjord C

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Campbell KP

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Carrié A

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Fardeau M

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Jeanpierre M

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Kaplan JC

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Merlini L

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Piccolo F

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P2860

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

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

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

Human adhalin is alternatively spliced and the gene is located on chromosome 17q21

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa

Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin)

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

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470-475

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scholarly article

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6

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34

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Cherif Beldjord

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14027502

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9192266

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1050969

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