Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy
about
Differential effects of myopathy-associated caveolin-3 mutants on growth factor signalingA comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severityMutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeCaveolinopathies: from the biology of caveolin-3 to human diseasesPOMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndromeLimb-girdle muscular dystrophyMutations in the caveolin-3 gene: When are they pathogenic?Absence of alpha 7 integrin in dystrophin-deficient mice causes a myopathy similar to Duchenne muscular dystrophyA POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.Development of rabbit monoclonal antibodies for detection of alpha-dystroglycan in normal and dystrophic tissue.Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Altered expression of natively glycosylated alpha dystroglycan in pediatric solid tumors.Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathyRNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China.Molecular and muscle pathology in a series of caveolinopathy patients.Caveolin-deficient mice: insights into caveolar function human diseaseTransgenic overexpression of dystroglycan does not inhibit muscular dystrophy in mdx miceDistal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteinsCaveolin-1/3 double-knockout mice are viable, but lack both muscle and non-muscle caveolae, and develop a severe cardiomyopathic phenotype.Diagnostic immunohistochemistry in neuromuscular disorders.Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stagesMuscular dystrophies due to defective glycosylation of dystroglycan.The Classification, Natural History and Treatment of the Limb Girdle Muscular DystrophiesMuscle-specific AMPK β1β2-null mice display a myopathy due to loss of capillary density in nonpostural muscles.Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.ABC of multifaceted dystrophin glycoprotein complex (DGC).Post-transcriptional regulation of fukutin in an astrocytoma cell line.Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course?The effects of post-translational processing on dystroglycan synthesis and trafficking.Inhibition of lipid raft-dependent signaling by a dystrophy-associated mutant of caveolin-3.Roles of fukutin, the gene responsible for fukuyama-type congenital muscular dystrophy, in neurons: possible involvement in synaptic function and neuronal migrationPhenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease.The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis.Dystroglycan is not required for localization of dystrophin, syntrophin, and neuronal nitric-oxide synthase at the sarcolemma but regulates integrin alpha 7B expression and caveolin-3 distribution.Rippling muscle disease in childhood.Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.Phenotypic variability associated with Arg26Gln mutation in caveolin3.Muscular dystrophy associated mutations in caveolin-1 induce neurotransmission and locomotion defects in Caenorhabditis elegans.Zebrafish as a model for caveolin-associated muscle disease; caveolin-3 is required for myofibril organization and muscle cell patterning.
P2860
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P2860
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy
description
2000 nî lūn-bûn
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2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Dissociation of the dystroglyc ...... limb girdle muscular dystrophy
@ast
Dissociation of the dystroglyc ...... limb girdle muscular dystrophy
@en
Dissociation of the dystroglyc ...... limb girdle muscular dystrophy
@nl
type
label
Dissociation of the dystroglyc ...... limb girdle muscular dystrophy
@ast
Dissociation of the dystroglyc ...... limb girdle muscular dystrophy
@en
Dissociation of the dystroglyc ...... limb girdle muscular dystrophy
@nl
prefLabel
Dissociation of the dystroglyc ...... limb girdle muscular dystrophy
@ast
Dissociation of the dystroglyc ...... limb girdle muscular dystrophy
@en
Dissociation of the dystroglyc ...... limb girdle muscular dystrophy
@nl
P2093
P3181
P1476
Dissociation of the dystroglyc ...... limb girdle muscular dystrophy
@en
P2093
H G Lenard
R Herrmann
P304
P3181
P356
10.1093/OXFORDJOURNALS.HMG.A018926
P407
P577
2000-09-22T00:00:00Z