IndraLab

Statements


ATXN1 activates ATXN3. 4 / 4
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"Ataxin gene variants in ATXN1, ATXN2, ATXN3, and ATXN7 cause SCA1, SCA2, SCA3, and SCA7, respectively."

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"XREF_BIBR SCA1, SCA2, Machado-Joseph or SCA3, SCA6, SCA7, SCA12, SCA17, and dentatorubral-pallidoluysian atrophy (DRPLA) are caused by (CAG) n repeat expansions in the ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, PPP2R2B, TBP, and ATN1 genes, respectively, and all lead to the expansion of a polyglutamine tract in the corresponding proteins."

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"SCA1, SCA2, and SCA3 are caused by large abnormal CAG trinucleotide repeat expansions in ATXN1, ATXN2, and ATXN3 genes, respectively (Chung et al., 1993; Orr et al., 1993; Kawaguchi et al., 1994; Pulst et al., 1996)."

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"There are also 6 types of spinocerebellar ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, SCA17), which are caused by expansions in the genes ATXN1 , ATXN2 , ATXN3 , CACNA1A , ATXN7 and TBP , respectively."