Article
Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
Neurobiology of disease - 1 Jul 2006
Chen Ying-Zhang, Hashemi Sayed H, Anderson Susan K, Huang Yongzhao, Moreira Maria-Ceu, Lynch David R, Glass Ian A, Chance Phillip F, Bennett Craig L
Abstract excerpt
A severe recessive cerebellar ataxia, Ataxia-Oculomotor Apraxia 2 (AOA2) and a juvenile onset form of dominant amyotrophic lateral sclerosis (ALS4) result from mutations of the Senataxin (SETX) gene. To begin characterization this disease protein, we developed a specific antibody to the DNA/RNA h...
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