TY - JOUR
T1 - Caveolae and caveolin-3 in muscular dystrophy
AU - Galbiati, Ferruccio
AU - Razani, Babak
AU - Lisanti, Michael P.
N1 - Funding Information:
This work was supported by grants from the NIH, the Muscular Dystrophy Association (MDA), the American Heart Association (AHA), and the Susan B. Komen Breast Cancer Foundation (to M.P.L.). B.R. is supported by a National Institutes of Health Medical Scientist Training Grant (T32-GM07288). M.P.L. is the recipient of a Hirschl/Weil-Caulier Career Scientist Award. F.G. is the recipient of a Scientist Development Grant (SDG) from the American Heart Association (AHA).
PY - 2001
Y1 - 2001
N2 - 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 -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.
AB - 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 -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.
UR - http://www.scopus.com/inward/record.url?scp=0034792435&partnerID=8YFLogxK
U2 - 10.1016/S1471-4914(01)02105-0
DO - 10.1016/S1471-4914(01)02105-0
M3 - Review article
C2 - 11597517
AN - SCOPUS:0034792435
SN - 1471-4914
VL - 7
SP - 435
EP - 441
JO - Trends in Molecular Medicine
JF - Trends in Molecular Medicine
IS - 10
ER -