Caveolin-3 in muscular dystrophy

Human Molecular Genetics
E M McNallyL M Kunkel

Abstract

The dystrophin-glycoprotein complex (DGC) serves as a link between cytoplasmic actin, the membrane and the extracellular matrix of striated muscle. Genetic defects in genes encoding a subset of DGC proteins result in muscular dystrophy and a secondary decrease in other DGC proteins. Caveolae are dynamic structures that have been implicated in a number of functions including endocytosis, potocytosis and signal transduction. Caveolin (VIP-21) is thought to play a structural role in the formation of non-clathrin-coated vesicles in a number of different cell types. Caveolin-3, or M-caveolin, was identified as a muscle-specific form of the caveolin family. We show that caveolin-3 co-purifies with dystrophin, and that a fraction of caveolin-3 is a dystrophin-associated protein. We isolated the gene for human caveolin-3 and mapped it to chromosome 3p25. We determined the genomic organization of human caveolin-3 and devised a screening strategy to look for mutations in caveolin-3 in patients with muscular dystrophy. Of 82 patients screened, two nucleotide changes were found that resulted in amino acid substitutions (G55S and C71W); these changes were not seen in a control population. The amino acid changes map to a functionally importa...Continue Reading

Citations

Mar 17, 2001·American Journal of Medical Genetics·F de PaulaM Zatz
Sep 26, 2000·Muscle & Nerve·R D Cohn, K P Campbell
Dec 8, 2004·Human Mutation·Luigi FulizioCorrado Angelini
Jan 1, 2003·Current Neurology and Neuroscience Reports·Katherine D Mathews, Steven A Moore
Jul 1, 1995·Journal of the Neurological Sciences·M VainzofM Zatz
Apr 23, 2003·Biochemical and Biophysical Research Communications·Donald D DoyleH Clive Palfrey
Apr 5, 2003·Journal of Molecular and Cellular Cardiology·Elizabeth McNallyAhlke Heydemann
Sep 12, 2001·Advanced Drug Delivery Reviews·L CampbellK Ritchie
Nov 9, 2000·Pediatric Neurology·B T Darras, H R Jones
Aug 17, 1999·Current Opinion in Cell Biology·T V Kurzchalia, R G Parton
Feb 13, 2001·Neuromuscular Disorders : NMD·R PogueK M Bushby
Jan 5, 2000·Neuromuscular Disorders : NMD·I RichardJ S Beckmann
Oct 13, 2001·Trends in Molecular Medicine·F GalbiatiM P Lisanti
Jul 9, 2009·European Journal of Human Genetics : EJHG·Elisabetta GazzerroCarlo Minetti
Apr 14, 2005·European Journal of Human Genetics : EJHG·Yanchao HuangSilvère M van der Maarel
Oct 1, 2003·Molecular Biology of the Cell·Hans ThornPeter Stralfors
Nov 20, 2001·Nucleic Acids Research·T J MackeR Sampath
Dec 15, 2010·The Neurologist·Laura BroglioMassimiliano Filosto
Jun 6, 2009·American Journal of Physiology. Cell Physiology·Pascal N BernatchezWilliam C Sessa
Dec 6, 2001·The Journal of Clinical Investigation·B Razani, M P Lisanti
Aug 10, 2000·Proceedings of the National Academy of Sciences of the United States of America·F GalbiatiM P Lisanti
Jul 11, 2014·Molecular and Cellular Endocrinology·Leire Méndez-GiménezGema Frühbeck
Nov 1, 2009·Expert Opinion on Medical Diagnostics·Carmen Navarro, Susana Teijeira
Jan 12, 2000·The Journal of Cell Biology·T G ThompsonL M Kunkel
Apr 1, 2003·Annals of Neurology·Christian KubischMatthias Vorgerd
Dec 27, 2011·Pediatric Neurology·Xiomara Q RosalesChang-Yong Tsao
Feb 16, 2010·Trends in Cell Biology·Carsten G Hansen, Ben J Nichols
Jun 28, 2008·Neuromuscular Disorders : NMD·Ahmed AboumousaVolker Straub
Sep 28, 2007·Neuromuscular Disorders : NMD·Harriet P LoKathryn N North
Dec 15, 2015·Trends in Cell Biology·Jade P X Cheng, Benjamin J Nichols
Feb 6, 2007·Heart Rhythm : the Official Journal of the Heart Rhythm Society·William L Border, D Woodrow Benson
Oct 29, 2009·Human Mutation·Paula L HedleyMichael Christiansen
Jun 17, 2003·Acta Neurologica Scandinavica·I YabeK Tashiro
May 1, 2009·Journal of Fish Biology·S-W ChongY-J Jiang
Jun 11, 2011·Muscle & Nerve·Manuel Arias GómezCarmen Navarro

❮ Previous
Next ❯

Related Concepts

Related Feeds

Caveolins & Signal Transduction

Caveolins are small proteins with a hairpin loop conformation that are located in the plasma membrane of various cell types where they bind cholesterol and interact with receptors essential for several signal transduction pathways. Here is the latest research.