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Article

The novel multiple sclerosis susceptibility gene ATXN1 regulates B cell receptor signaling in B-1a cells.

Molecular brain - 21 Jan 2021

Ma Qin, Didonna Alessandro

Abstract excerpt

Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system (CNS) caused by complex gene-environment interactions. ATXN1 maps to 6p22.3, within the 233 loci associated with an increased risk of developing MS. Toxic gain-of-function mutations in ATXN1 cause the neurodegenerative disorder spinocerebellar ataxia type 1 (SCA1). Conversely, ATXN1 loss-of-function is involved in...

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Identifiers

PMID: 33478569
DOI: 10.1186/s13041-020-00715-0
PMCID: PMC7819313

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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