IndraLab

Statements

ATXN3 activates Ataxia. 7 / 7
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"Mechanistically, it is not yet fully understood how the ATXN3 variants contribute to ataxia."
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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."
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"The most common, dominantly inherited ataxia worldwide, Spinocerebellar Ataxia Type 3 (SCA3), also known as Machado-Joseph Disease, is caused by a mutation in the deubiquitinase (DUB) ataxin-3 (Atxn3)[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"As a part of the routine genetic testing, they were tested using standard laboratories protocols for the ataxia-causing known genes in India—SCA1, SCA2, SCA3, SCA7, and SCA12."
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"Clinically, MJD leads to progressive ataxia and pyramidal signs, accompanied by a wide array of symptoms such as amyotrophy, gait imbalance, ophthalmoplegia, speech difficulties and dysphagia [77]."
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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."
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"Spinocerebellar ataxia type 3 (SCA3), a neurodegenerative condition caused by a CAG repeat expansion in the ATXN3 gene, leads to progressive ataxia affecting balance, gait, and speech."
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