The emerging family of dystrophin-related proteins

Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Tinsley, Jonathon M. and Davies, Kay E. 1994. The emerging family of dystrophin-related proteins. Trends in Cell Biology 4 (1) , pp. 19-23. 10.1016/0962-8924(94)90034-5

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Abstract

Duchenne and Becker muscular dystrophies are caused by mutations in the gene encoding dystrophin, a component of the subsarcolemmal cytoskeleton. Dystrophin-related proteins are identical or homologous to the cysteine-rich and C-terminal domains of dystrophin. This part of dystrophin binds to a membrane-spanning glycoprotein complex in muscle. At least five dystrophin-related proteins are encoded by the Duchenne muscular dystrophy locus. These proteins are found in many non-muscle tissues where dystrophin is not expressed and they are thought to be membrane-associated. Two other dystrophin-related proteins-utrophin and an 87 kDa postsynaptic protein - are encoded by separate loci and, like dystrophin, they are components of the neuromuscular junction.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Elsevier
ISSN:	0962-8924
Last Modified:	24 Oct 2022 11:52
URI:	https://orca.cardiff.ac.uk/id/eprint/49614

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