Caveolae and caveolin-3 in muscular dystrophy |
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Authors: | Galbiati F Razani B Lisanti M P |
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Institution: | Department of Pharmacology, University of Pittsburgh School of Medicine, Biomedical Science Tower (BST), Rm E1356, Pittsburgh, PA 15261, USA. |
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Abstract: | 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 approximately 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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