Article
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.
Laboratory investigation; a journal of technical methods and pathology - 1 Mar 2008
Traverso Monica, Gazzerro Elisabetta, Assereto Stefania, Sotgia Federica, Biancheri Roberta, Stringara Silvia, Giberti Laura, Pedemonte Marina, Wang Xiabo, Scapolan Sara, Pasquini Elisabetta, Donati Maria A, Zara Federico, Lisanti Michael P, Bruno Claudio, Minetti Carlo
Abstract excerpt
Caveolins are the principal protein components of caveolae, invaginations of the plasma membrane involved in cell signaling and trafficking. Caveolin-3 (Cav-3) is the muscle-specific isoform of the caveolin family and mutations in the CAV3 gene lead to a large group of neuromuscular disorders. In unrelated patients, we identified two distinct CAV3 mutations involving the same codon 78. Patient 1, affected by...
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