Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases
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Differential effects of myopathy-associated caveolin-3 mutants on growth factor signalingCaveolinopathies: from the biology of caveolin-3 to human diseasesMolecular evolution of the junctophilin gene familyDefective interactions of protein partner with ion channels and transporters as alternative mechanisms of membrane channelopathiesThe caveolin-cavin system plays a conserved and critical role in mechanoprotection of skeletal muscle.PTRF/Cavin-1 Deficiency Causes Cardiac Dysfunction Accompanied by Cardiomyocyte Hypertrophy and Cardiac FibrosisCholesterol depletion in adipocytes causes caveolae collapse concomitant with proteosomal degradation of cavin-2 in a switch-like fashionRole of myotonic dystrophy protein kinase (DMPK) in glucose homeostasis and muscle insulin action.Caveolae, ion channels and cardiac arrhythmias.Modest effects of lipid modifications on the structure of caveolin-3Viral entry, lipid rafts and caveosomes.Defining a new paradigm for human arrhythmia syndromes: phenotypic manifestations of gene mutations in ion channel- and transporter-associated proteins.Membrane traffic and muscle: lessons from human diseaseCaveolae protect endothelial cells from membrane rupture during increased cardiac outputCells respond to mechanical stress by rapid disassembly of caveolae.Palmitate diet-induced loss of cardiac caveolin-3: a novel mechanism for lipid-induced contractile dysfunction.Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance.MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes.Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscleMuscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neuronsCaveolins in cardioprotection - translatability and mechanismsMURC/cavin-4 Is Co-Expressed with Caveolin-3 in Rhabdomyosarcoma Tumors and Its Silencing Prevents Myogenic Differentiation in the Human Embryonal RD Cell Line.Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibers.Diagnostic immunohistology of muscle diseases.Therapy insight: cardiovascular complications associated with muscular dystrophies.Caveolins in glial cell model systems: from detection to significance.Two-way traffic on the road to plasma membrane repairA pH-Mediated Topological Switch within the N-Terminal Domain of Human Caveolin-3.From embryonic development to human diseases: The functional role of caveolae/caveolin.Caveolins in rhabdomyosarcomaMolecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies.The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members.Common membrane trafficking defects of disease-associated dynamin 2 mutationsMurine Electrophysiological Models of Cardiac Arrhythmogenesis.Delta Opioid Receptors and Cardioprotection.Architecture of the caveolar coat complex.Interaction of caveolin-1, nitric oxide, and nitric oxide synthases in hypoxic human SK-N-MC neuroblastoma cells.Differential expression of caveolin-3 in mouse smooth muscle cells in vivo.Muscular dystrophy in PTFR/cavin-1 null mice.The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis.
P2860
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P2860
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases
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2004 nî lūn-bûn
@nan
2004 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2004年の論文
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2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
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2004年论文
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name
Caveolinopathies: mutations in ...... somal dominant muscle diseases
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Caveolinopathies: mutations in ...... somal dominant muscle diseases
@en
Caveolinopathies: mutations in ...... somal dominant muscle diseases
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Caveolinopathies: mutations in ...... somal dominant muscle diseases
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Caveolinopathies: mutations in ...... somal dominant muscle diseases
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Caveolinopathies: mutations in ...... somal dominant muscle diseases
@nl
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Caveolinopathies: mutations in ...... somal dominant muscle diseases
@ast
Caveolinopathies: mutations in ...... somal dominant muscle diseases
@en
Caveolinopathies: mutations in ...... somal dominant muscle diseases
@nl
P2093
P3181
P356
P1433
P1476
Caveolinopathies: mutations in ...... somal dominant muscle diseases
@en
P2093
F Galbiati
M P Lisanti
S E Woodman
P304
P3181
P356
10.1212/WNL.62.4.538
P407
P577
2004-02-24T00:00:00Z