Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A

Details

Serval ID
serval:BIB_2D1493A65300
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A
Journal
Journal of Biological Chemistry
Author(s)
Ono  Y., Shimada  H., Sorimachi  H., Richard  I., Saido  T. C., Beckmann  J. S., Ishiura  S., Suzuki  K.
ISSN
0021-9258 (Print)
Publication state
Published
Issued date
07/1998
Volume
273
Number
27
Pages
17073-8
Notes
Journal Article --- Old month value: Jul 3
Abstract
p94 (calpain3), a muscle-specific member of the calpain family, has been shown to be responsible for limb-girdle muscular dystrophy type 2A (LGMD2A), a form of autosomal recessive and progressive neuromuscular disorder. To elucidate the molecular mechanism of LGMD2A, we constructed nine p94 missense point mutants found in LGMD2A and analyzed their p94 unique properties. All mutants completely or almost completely lose the proteolytic activity against a potential substrate, fodrin. However, some of the mutants still possess autolytic activity and/or connectin/titin binding ability, indicating these properties are not necessary for the LGMD2A phenotypes. These results provide strong evidence that LGMD2A results from the loss of proteolysis of substrates by p94, suggesting a novel molecular mechanism leading to muscular dystrophies.
Keywords
Animals COS Cells Calpain/genetics/metabolism/*physiology Carrier Proteins/metabolism Humans Hydrolysis Microfilament Proteins/metabolism Muscle Proteins/metabolism Muscular Dystrophies/*genetics Mutagenesis, Site-Directed *Point Mutation Protein Kinases/metabolism
Pubmed
Web of science
Open Access
Yes
Create date
25/01/2008 17:18
Last modification date
20/08/2019 14:12
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