Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)
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 culturePrivate beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern ItalyrAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophyMaking 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 prospectsalpha-Dystroglycan is a laminin receptor involved in extracellular matrix assembly on myotubes and muscle cell viability.Progressive muscular dystrophy in alpha-sarcoglycan-deficient miceThin, 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 DystrophyDesigning 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.
P2860
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P2860
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)
@ast
Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)
@en
Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)
@en-gb
Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)
@nl
type
label
Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)
@ast
Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)
@en
Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)
@en-gb
Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)
@nl
prefLabel
Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)
@ast
Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)
@en
Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)
@en-gb
Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)
@nl
P2093
P2860
P356
P1476
Mutational diversity and hot s ...... ve muscular dystrophy (LGMD2D)
@en
P2093
Beldjord C
Campbell KP
Jeanpierre M
P2860
P304
P356
10.1136/JMG.34.6.470
P407
P577
1997-06-01T00:00:00Z