IndraLab

Statements


ATXN3 activates CASP3. 7 / 7
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reach
"For ataxias SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 and dentatorubral-pallidoluysian atrophy, expansion beyond 39, 33, 45, 20, 34, 41, and 35 repeats in the ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, and ATN1 genes, respectively, will cause disease."

reach
"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."

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

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"At least 6 autosomal dominant forms of spinocerebellar ataxia (SCA1, 2, 3, 6, 7, and 17) are caused by CAG repeat expansions, the most common of these being SCA3, or Machado-Joseph disease (MJD)."

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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."

reach
"Recent studies showed that polyglutamine-expanded huntingtin or ataxin-3 also induced caspase-3 activation and apoptotic neuronal death by releasing cytochrome- c and Smac from mitochondria ( [48,49] [MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"

reach
"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)."