Clinical and translational implications of the caveolin gene family: Lessons from mouse models and human genetic disorders

Isabelle Mercier, Jean Francois Jasmin, Stephanos Pavlides, Carlo Minetti, Neal Flomenberg, Richard G. Pestell, Philippe G. Frank, Federica Sotgia, Michael P. Lisanti

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Here we review the clinical and translational implications of the caveolin gene family for understanding the pathogenesis of human diseases, including breast and prostate cancers, pulmonary hypertension, cardiomyopathy, diabetes, and muscular dystrophy. Detailed phenotypic analysis of caveolin knockout mice has served to highlight the crucial role of a caveolin deficiency in the pathogenesis of many human disease processes. Mutations in the human caveolin genes are associated with a number of established genetic disorders (such as breast cancer, lipodystrophy, muscular dystrophy, and cardiomyopathy), making the caveolins important and novel targets for drug development. The implementation of new strategies for caveolin replacement therapyincluding caveolin mimetic peptidesis ongoing. © 2009 USCAP, Inc. All rights reserved.
    Original languageEnglish
    Pages (from-to)614-623
    Number of pages9
    JournalLaboratory Investigation
    Volume89
    Issue number6
    DOIs
    Publication statusPublished - Jun 2009

    Keywords

    • Caveolae
    • Caveolins
    • Human disease pathogenesis
    • Mouse animal models

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