Article

Altered retinal structure and function in Spinocerebellar ataxia type 3

2022-01-11

Abstract excerpt

<h4>ABSTRACT</h4> Spinocerebellar ataxia type 3 is an autosomal dominant neurodegenerative disorder caused by expansion of a polyglutamine (polyQ)-encoding CAG repeat in the ATXN3 gene. Because the ATXN3 protein regulates photoreceptor ciliogenesis and phagocytosis, we aimed to explore whether expanded polyQ ATXN3 impacts retinal function and integrity in SCA3 patients and transgenic mice. We evaluated the reti...

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Literature Corpus work: b9a1cbce-00a1-5e01-a87f-fb07f8e56c69
DOI: 10.1101/2022.01.10.475670

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