Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
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Caveolinopathies: from the biology of caveolin-3 to human diseasesCaveolin regulates endocytosis of the muscle repair protein, dysferlinDefects in caveolin-1 cause dilated cardiomyopathy and pulmonary hypertension in knockout miceConcentration of caveolin-3 at the neuromuscular junction in young and old rat skeletal muscle fibersSarcolemmal repair is a slow process and includes EHD2.Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.Caveolae, caveolins, and cavins: complex control of cellular signalling and inflammation.RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.The intriguing regulators of muscle mass in sarcopenia and muscular dystrophy.Caveolin-deficient mice: insights into caveolar function human diseaseDeletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance.Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscleT-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases.A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)Limb-girdle muscular dystrophies--from genetics to molecular pathology.Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency.Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases.Diagnostic immunohistochemistry in neuromuscular disorders.Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.Caveolin-3 regulates myostatin signaling. Mini-review.Genetic screen in Drosophila muscle identifies autophagy-mediated T-tubule remodeling and a Rab2 role in autophagy.From embryonic development to human diseases: The functional role of caveolae/caveolin.Positive muscle phenomena--diagnosis, pathogenesis and associated disorders.Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies.Isaacs syndrome: A review.Unraveling the role of membrane microdomains during microbial infections.Caveolin interacts with the angiotensin II type 1 receptor during exocytic transport but not at the plasma membrane.Inhibition of lipid raft-dependent signaling by a dystrophy-associated mutant of caveolin-3.Simultaneous dystrophin and dysferlin deficiencies associated with high-level expression of the coxsackie and adenovirus receptor in transgenic mice.Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease.Dysferlin is expressed in human placenta but does not associate with caveolin.Rippling muscle disease in childhood.Consequences of a novel caveolin-3 mutation in a large German family.Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.Zebrafish as a model for caveolin-associated muscle disease; caveolin-3 is required for myofibril organization and muscle cell patterning.Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations.Loss of caveolin-3 induced by the dystrophy-associated P104L mutation impairs L-type calcium channel function in mouse skeletal muscle cellsRippling is not always electrically silent in rippling muscle disease
P2860
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P2860
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
description
2001 nî lūn-bûn
@nan
2001 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Mutations in CAV3 cause mechan ...... cle in rippling muscle disease
@ast
Mutations in CAV3 cause mechan ...... cle in rippling muscle disease
@en
Mutations in CAV3 cause mechan ...... cle in rippling muscle disease
@nl
type
label
Mutations in CAV3 cause mechan ...... cle in rippling muscle disease
@ast
Mutations in CAV3 cause mechan ...... cle in rippling muscle disease
@en
Mutations in CAV3 cause mechan ...... cle in rippling muscle disease
@nl
prefLabel
Mutations in CAV3 cause mechan ...... cle in rippling muscle disease
@ast
Mutations in CAV3 cause mechan ...... cle in rippling muscle disease
@en
Mutations in CAV3 cause mechan ...... cle in rippling muscle disease
@nl
P2093
P50
P356
P1433
P1476
Mutations in CAV3 cause mechan ...... cle in rippling muscle disease
@en
P2093
Propping P
Torbergsen T
Wienker TF
P2888
P304
P356
10.1038/90050
P407
P50
P577
2001-07-01T00:00:00Z