Article
Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death.
Human molecular genetics - 1 Jul 2003
Huynh Duong P, Yang Hai-Tao, Vakharia Hema, Nguyen Dung, Pulst Stefan M
Abstract excerpt
Spinocerebellar ataxia type 2 (SCA2) is caused by the expansion of a polyglutamine (polyQ) repeat in ataxin-2, the SCA2 gene product. In contrast to other polyQ diseases, intranuclear inclusions are not prominent in SCA2. In animal models with expression of mutant ataxin-2 targeted to Purkinje ce...
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