ataxin


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ataxin

(ă-tăks'in),
An abnormal protein found in spinal cerebellar ataxias as a result of CAG repeat expansions.
[ataxia + -in]
References in periodicals archive ?
Other than the 68 FA cases inherited as AR, out of 61 cases considered to have been inherited as AD, two have shown the ataxin 1 (ATXN 1) (SCA1) gene mutation, and two have shown the CACNA1A (SCA6) gene mutation.
polyQ sequences in some proteins, including ataxin. They mentioned that
expansions in ataxin 7 result in different types of aggregation and
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).
molecular and Cellular biology, Sep 2003, Ataxin 3 interaction with Rad23 and valosin containing protein and its association with ubiquitin chain and the proteosome are consistant with a role in ubiquitin mediated proteolysis, vol.
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.