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Article

Identification of Splicing Regulatory Activity of ATXN1 and Its Associated Domains

28 May 2025

Abstract excerpt

The expansion of the polyglutamine tract in ATXN1 contributes to the pathogenesis of SCA1. ATXN1 functions as a transcriptional regulator that interacts with multiple transcription factors, and transcriptional dysregulation has been observed in SCA1. In addition, splicing dysregulation has been identified in cells derived from SCA1 patients and model mouse tissues. Although ATXN1 binds to RNA and splicing...

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PMID: 40563422
DOI: 10.3390/biom15060782

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