Article
Short half-lives of ataxia-associated aprataxin proteins in neuronal cells.
Neuroscience letters - 29 May 2007
Hirano Makito, Asai Hirohide, Kiriyama Takao, Furiya Yoshiko, Iwamoto Takaaki, Nishiwaki Tomohisa, Yamamoto Aya, Mori Toshio, Ueno Satoshi
Abstract excerpt
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ataxia with oculomotor apraxia type 1 (AOA1) is caused by mutations in the gene encoding aprataxin (APTX). Although several in vitro findings proposed that impaired enzymatic activities of APTX are responsible for EAOH/AOA1, potential instability of mutant proteins has also been suggested as the pathogenesis based on in vivo finding that...
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