Associated Papers
A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies.
Pradhan BS et al.
International Journal of Molecular Sciences, 2020
Biochemical and pathological changes result from mutated Caveolin-3 in muscle.
González Coraspe JA et al.
Skeletal Muscle, 2018
The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.
Hedley PL et al.
Circulation. Cardiovascular Genetics, 2013
Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.
Saini-Chohan HK et al.
Journal of Lipid Research, 2012
Caveolinopathies: from the biology of caveolin-3 to human diseases.
Gazzerro E et al.
European Journal of Human Genetics : Ejhg, 2010
Rippling muscle disease: variable phenotype in a family with five afflicted members.
Jacobi C et al.
Muscle & Nerve, 2010
Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.
Catteruccia M et al.
Neuromuscular Disorders : Nmd, 2009
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.
Traverso M et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2008
Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function.
Lehnart SE et al.
Circulation, 2007
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
Vatta M et al.
Circulation, 2006
Cell biology of membrane trafficking in human disease.
Howell GJ et al.
International Review of Cytology, 2006
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases.
Woodman SE et al.
Neurology, 2004
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy.
Hayashi T et al.
Biochemical and Biophysical Research Communications, 2004
Caveolae, ion channels and cardiac arrhythmias.
Balijepalli RC et al.
Progress in Biophysics and Molecular Biology, 0