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ATXN3 activates Ataxia. 2 / 2

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"Transcriptional dysregulation has been described in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), an autosomal dominant ataxia caused by a polyglutamine expansion in the ataxin-3 protein."

37071051

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"Mutation of USP14 in mice or ataxin-3 in humans causes ataxia (Crimmins et al., 2006; Duenas et al., 2006) , whereas the S18Y allele of human UCH-L1 confers protection against sporadic Parkinson's disease."

19571111

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ATXN3 activates Ataxia. 2 / 2

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