Title : Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.

Pub. Date : 2010 Feb

PMID : 19593598






1 Functional Relationships(s)
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1 Further analysis of a neuronal cell model SKNBE, transfected with the mutant senataxin proteins, reveals increased sensitivity also to staurosporine and excitotoxicity associated with the p.L114Del mutant only. Staurosporine senataxin Homo sapiens