Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2001-2-22
pubmed:abstractText
Caveolin-3 is the muscle-specific isoform of the caveolin protein family, which is a major component of caveolae, small membrane invaginations found in most cell types. Caveolins play important roles in the formation of caveola membranes, acting as scaffolding proteins to organize and concentrate lipid-modified signaling molecules, and modulate a signaling pathway. For instance, caveolin-3 interacts with neuronal nitric oxide synthase (nNOS) and inhibits its catalytic activity. Recently, specific mutations in the caveolin-3 gene, including the Pro104Leu missense mutation, have been shown to cause an autosomal dominant limb-girdle muscular dystrophy (LGMD1C), which is characterized by the deficiency of caveolin-3 in the sarcolemma. However, the molecular mechanism by which these mutations cause the deficiency of caveolin-3 and muscle cell degeneration remains elusive. Here we generated transgenic mice expressing the Pro104Leu mutant caveolin-3. They showed severe myopathy accompanied by the deficiency of caveolin-3 in the sarcolemma, indicating a dominant negative effect of mutant caveolin-3. Interestingly, we also found a great increase of nNOS activity in their skeletal muscle, which, we propose, may play a role in muscle fiber degeneration in caveolin-3 deficiency.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0964-6906
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
173-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:11159934-Animals, pubmed-meshheading:11159934-Blotting, Western, pubmed-meshheading:11159934-Caveolin 3, pubmed-meshheading:11159934-Caveolins, pubmed-meshheading:11159934-Female, pubmed-meshheading:11159934-Gene Expression, pubmed-meshheading:11159934-Genotype, pubmed-meshheading:11159934-Immunohistochemistry, pubmed-meshheading:11159934-Male, pubmed-meshheading:11159934-Mice, pubmed-meshheading:11159934-Mice, Transgenic, pubmed-meshheading:11159934-Muscle, Skeletal, pubmed-meshheading:11159934-Muscular Diseases, pubmed-meshheading:11159934-Mutation, pubmed-meshheading:11159934-Nitric Oxide Synthase, pubmed-meshheading:11159934-Nitric Oxide Synthase Type I, pubmed-meshheading:11159934-Phenotype, pubmed-meshheading:11159934-RNA, Messenger, pubmed-meshheading:11159934-Reverse Transcriptase Polymerase Chain Reaction
pubmed:year
2001
pubmed:articleTitle
Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity.
pubmed:affiliation
Division of Neurology, Department of Internal Medicine, Kawasaki Medical School, 577 Matsushima, Kurashiki-City, Okayama 701-0192, Japan. ysunada@med.kawasaki-m.ac.jp
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't