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Article

Mapping SCA1 regional vulnerabilities reveals neural and skeletal muscle contributions to disease.

JCI insight - 21 Mar 2024

Duvick Lisa, Southern W Michael, Benzow Kellie A, Burch Zoe N, Handler Hillary P, Mitchell Jason S, Kuivinen Hannah, Gadiparthi Udaya, Yang Praseuth, Soles Alyssa, Sheeler Carrie A, Rainwater Orion, Serres Shannah, Lind Erin B, Nichols-Meade Tessa, You Yun, O'Callaghan Brennon, Zoghbi Huda Y, Cvetanovic Marija, Wheeler Vanessa C, Ervasti James M, Koob Michael D, Orr Harry T

Abstract excerpt

Spinocerebellar ataxia type 1 (SCA1) is a fatal neurodegenerative disease caused by an expanded polyglutamine tract in the widely expressed ataxin-1 (ATXN1) protein. To elucidate anatomical regions and cell types that underlie mutant ATXN1-induced disease phenotypes, we developed a floxed conditional knockin mouse (f-ATXN1146Q/2Q) with mouse Atxn1 coding exons replaced by human ATXN1 exons encoding 146...

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Source

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Identifiers

PMID: 38512434
DOI: 10.1172/jci.insight.176057
PMCID: PMC11141930

Genes

ATXN1
ACTA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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