Article
Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1.
JCI insight - 8 Feb 2021
Nitschke Larissa, Coffin Stephanie L, Xhako Eder, El-Najjar Dany B, Orengo James P, Alcala Elizabeth, Dai Yanwan, Wan Ying-Wooi, Liu Zhandong, Orr Harry T, Zoghbi Huda Y
Abstract excerpt
Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disorder characterized by motor incoordination, mild cognitive decline, respiratory dysfunction, and early lethality. It is caused by the expansion of the polyglutamine (polyQ) tract in Ataxin-1 (ATXN1), which stabilizes the protein, leading to its toxic accumulation in neurons. Previously, we showed that serine 776 (S776) phosphorylation is...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
