Journal
TRENDS IN MOLECULAR MEDICINE
Volume 7, Issue 10, Pages 435-441Publisher
ELSEVIER SCI LTD
DOI: 10.1016/S1471-4914(01)02105-0
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Funding
- NIGMS NIH HHS [T32-GM07288] Funding Source: Medline
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Caveolae are vesicular invaginations of the plasma membrane, and function as,message centers' for regulating signal transduction events. Caveolin-3, a muscle-specific caveolin-related protein, is the principal structural protein of caveolar membrane domains in skeletal muscle and in the heart. Several mutations within the coding sequence of the human caveolin-3 gene (located at 3p25) have been identified. Mutations that lead to a loss of similar to 95% of caveolin-3 protein expression are responsible for a novel autosomal dominant form of limb-girdle muscular dystrophy (LGMD-1C) in humans. By contrast, upregulation of the caveolin-3 protein is associated with Duchenne muscular dystrophy (DMD). Thus, tight regulation of caveolin-3 appears essential for maintaining normal muscle health and homeostasis.
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