Biochemical and pathological changes result from mutated Caveolin-3 in muscle

Skeletal Muscle
José Andrés González CoraspeAndreas Roos

Abstract

Caveolin-3 (CAV3) is a muscle-specific protein localized to the sarcolemma. It was suggested that CAV3 is involved in the connection between the extracellular matrix (ECM) and the cytoskeleton. Caveolinopathies often go along with increased CK levels indicative of sarcolemmal damage. So far, more than 40 dominant pathogenic mutations have been described leading to several phenotypes many of which are associated with a mis-localization of the mutant protein to the Golgi. Golgi retention and endoplasmic reticulum (ER) stress has been demonstrated for the CAV3 p.P104L mutation, but further downstream pathophysiological consequences remained elusive so far. We utilized a transgenic (p.P104L mutant) mouse model and performed proteomic profiling along with immunoprecipitation, immunofluorescence and immunoblot examinations (including examination of α-dystroglycan glycosylation), and morphological studies (electron and coherent anti-Stokes Raman scattering (CARS) microscopy) in a systematic investigation of molecular and subcellular events in p.P104L caveolinopathy. Our electron and CARS microscopic as well as immunological studies revealed Golgi and ER proliferations along with a build-up of protein aggregates further characterized b...Continue Reading

References

Feb 16, 2002·Methods : a Companion to Methods in Enzymology·K J Livak, T D Schmittgen
Jan 25, 2003·Methods : a Companion to Methods in Enzymology·William MohlerPaul J Campagnola
Jan 31, 2003·Annals of Neurology·Dirk FischerRolf Schröder
Mar 28, 2003·Biochemical and Biophysical Research Communications·Jianhe HuangFrank S Lee
Mar 12, 2005·Proteomics·Linda L ManzaDaniel C Liebler
Oct 27, 2005·Molecular & Cellular Proteomics : MCP·Jesper V OlsenMatthias Mann
Feb 7, 2008·Laboratory Investigation; a Journal of Technical Methods and Pathology·Monica TraversoCarlo Minetti
Apr 21, 2009·Nature Methods·Jacek R WiśniewskiMatthias Mann
Jul 9, 2009·European Journal of Human Genetics : EJHG·Elisabetta GazzerroCarlo Minetti
May 18, 2010·The American Journal of Pathology·Eva BrauersAlexander Krüttgen
Aug 18, 2010·Journal of Lipid Research·Thuc T LeJi-Xin Cheng
May 26, 2011·Human Molecular Genetics·Atsushi KugaYoshihide Sunada
Jan 4, 2012·Journal of Cellular Physiology·Valentina BizzarroLuca Parente
Mar 1, 2012·The Journal of Biological Chemistry·Myung Kuk JoeStanislav I Tomarev
Apr 12, 2013·Nature Communications·Stéphanie CharrinEric Rubinstein
Jun 13, 2014·EMBO Molecular Medicine·Burcu AyogluCristina Al-Khalili Szigyarto
Jan 13, 2015·Nature Biotechnology·Marc VaudelHarald Barsnes
Dec 1, 2015·Muscle & Nerve·Lucas R SmithElisabeth R Barton
Apr 2, 2016·Physiological Reports·M A Hassan TalukderIlka M Pinz
Jun 29, 2016·Scientific Reports·Jeroen H F de BaaijJoost G J Hoenderop
Aug 16, 2016·Nature Chemical Biology·David C BriggsKevin P Campbell
Oct 22, 2016·American Journal of Physiology. Cell Physiology·Adam KassanHemal H Patel
Oct 25, 2016·Neurologia i neurochirurgia polska·Anna MaciasAnna Kaminska
Feb 25, 2017·Biochemical and Biophysical Research Communications·Yu Feng DengQin Huang
Apr 27, 2017·International Journal of Molecular Sciences·Masaharu Takamori
Nov 14, 2017·Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology·Fan DengZhengyuan Xia

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Citations

Feb 25, 2020·Journal of Cachexia, Sarcopenia and Muscle·Dinesh S ShahHarinder S Hundal
Aug 23, 2020·Biomolecules·Antonio Filippini, Alessio D'Alessio
Oct 21, 2020·Scientific Reports·Cyriel Sebastiaan OlieVered Raz
Feb 11, 2021·Orphanet Journal of Rare Diseases·Andreas HentschelAndreas Roos
Jul 25, 2021·International Journal of Molecular Sciences·Elena IgnatievaRenata Dmitrieva

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Datasets Mentioned

BETA
GM130

Methods Mentioned

BETA
transgenic
glycosylation
proteomic profiling
biopsy
Protein Assay
acetylation
ubiquitination
PCR
fluorescence
Immunoprecipitation

Software Mentioned

GF +
Odyssey
MS
! Tandem Jackhammer
Progenesis
Proteome Discoverer
Progenesis LC - MS
STRING
searchGUI
Mascot

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