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In two cases with FA showing an AD inheritance pattern, ataxin I gene mutation was found, while in two other cases, CACNAIA gene mutation was found.
polyQ sequences in some proteins, including ataxin.
Ataxin 3 is ubiquitously expressed throughout the body, pathology occurs only in the brain, where ataxin 3 accumulates in inclusions, along with proteins including molecular Chaperons and components of ubiquitin proteosome degradation pathway (6).
Using yeast and fruit flies as simple, yet rapid and powerful models, then following up with human DNA screening, an international study led by biologists and neuroscientists from the University of Pennsylvania found evidence that mutations in the ataxin 2 gene were a genetic contributor to the disease.