Article
A novel Ataxin-3 knock-in mouse model mimics the human SCA3 disease phenotype including neuropathological, behavioral, and transcriptional abnormalities
2020-02-28
Abstract excerpt
<h4>Background</h4> Spinocerebellar ataxia type 3 is the most common autosomal dominant inherited ataxia worldwide and is caused by a CAG repeat expansion in the Ataxin-3 gene resulting in a polyQ expansion in the corresponding protein. The disease is characterized by neuropathological (aggregate formation, cell loss), phenotypical (gait instability, body weight reduction), and specific transcriptional changes i...
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Identifiers and source
- Literature Corpus work
- 439d01c7-ae2a-52cc-ac05-b7d165a941cc
- DOI
- 10.1101/2020.02.28.968024
