Article
Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction.
Human molecular genetics - 15 Jul 2015
Guyenet Stephan J, Mookerjee Shona S, Lin Amy, Custer Sara K, Chen Sylvia F, Sopher Bryce L, La Spada Albert R, Ellerby Lisa M
Abstract excerpt
The neurodegenerative disorder spinocerebellar ataxia type 7 (SCA7) is caused by a polyglutamine (polyQ) expansion in the ataxin-7 protein, categorizing SCA7 as one member of a large class of heritable neurodegenerative proteinopathies. Cleavage of ataxin-7 by the protease caspase-7 has been demonstrated in vitro, and the accumulation of proteolytic cleavage products in SCA7 patients and mouse models has been...
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