-
Biochim. Biophys. Acta · Feb 2007
ReviewMolecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).
- Irina Kramerova, Jacques S Beckmann, and Melissa J Spencer.
- Department of Neurology and Pediatrics and UCLA Duchenne Muscular Dystrophy Research Center, University of California, Los Angeles, Neuroscience Research Building, 635 Young Dr. South, Los Angeles, CA 90095-7334, USA.
- Biochim. Biophys. Acta. 2007 Feb 1; 1772 (2): 128-44.
AbstractLimb girdle muscular dystrophy type 2A results from mutations in the gene encoding the calpain 3 protease. Mutations in this disease are inherited in an autosomal recessive fashion and result in progressive proximal skeletal muscle wasting but no cardiac abnormalities. Calpain 3 has been shown to proteolytically cleave a wide variety of cytoskeletal and myofibrillar proteins and to act upstream of the ubiquitin-proteasome pathway. In this review, we summarize the known biochemical and physiological features of calpain 3 and hypothesize why mutations result in disease.
Notes
Knowledge, pearl, summary or comment to share?You can also include formatting, links, images and footnotes in your notes
- Simple formatting can be added to notes, such as
*italics*,_underline_or**bold**. - Superscript can be denoted by
<sup>text</sup>and subscript<sub>text</sub>. - Numbered or bulleted lists can be created using either numbered lines
1. 2. 3., hyphens-or asterisks*. - Links can be included with:
[my link to pubmed](http://pubmed.com) - Images can be included with:
 - For footnotes use
[^1](This is a footnote.)inline. - Or use an inline reference
[^1]to refer to a longer footnote elseweher in the document[^1]: This is a long footnote..