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Article

ALS-associated genes in SCA2 mouse spinal cord transcriptomes

15 Apr 2020

Abstract excerpt

The spinocerebellar ataxia type 2 (SCA2) gene ATXN2 has a prominent role in the pathogenesis and treatment of amyotrophic lateral sclerosis (ALS). In addition to cerebellar ataxia, motor neuron disease is often seen in SCA2, and ATXN2 CAG repeat expansions in the long normal range increase ALS risk. Also, lowering ATXN2 expression in TDP-43 ALS mice prolongs their survival. Here we investigated the ATXN2...

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PMID: 32307524
DOI: 10.1093/hmg/ddaa072

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