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Article

Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles.

Neuron - 15 Feb 2023

Handler Hillary P, Duvick Lisa, Mitchell Jason S, Cvetanovic Marija, Reighard Molly, Soles Alyssa, Mather Kathleen B, Rainwater Orion, Serres Shannah, Nichols-Meade Tessa, Coffin Stephanie L, You Yun, Ruis Brian L, O'Callaghan Brennon, Henzler Christine, Zoghbi Huda Y, Orr Harry T

Abstract excerpt

Spinocerebellar ataxia type 1 (SCA1) is a dominant trinucleotide repeat neurodegenerative disease characterized by motor dysfunction, cognitive impairment, and premature death. Degeneration of cerebellar Purkinje cells is a frequent and prominent pathological feature of SCA1. We previously showed that transport of ATXN1 to Purkinje cell nuclei is required for pathology, where mutant ATXN1 alters transcription. To...

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Identifiers

PMID: 36577403
DOI: 10.1016/j.neuron.2022.11.017
PMCID: PMC9957934

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