IndraLab

Statements

ATXN3 activates L-glutamine. 8 / 8
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"Spinocerebellar ataxia type 3 (SCA3) is a human polyglutamine disease caused by mutations in the gene encoding Ataxin-3, resulting in progressive dysfunction of the cerebellum [XREF_BIBR]."
18624757
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"SCA3 is caused by an expansion mutation of cytosine-adenine-guanine (CAG) repeats encoding a polyglutamine stretch from 51 to 91 repeats in the ataxin-3 gene, which normally has fewer than 44 CAG repeats."
33071733
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"We have previously shown that rapamycin attenuates the phenotype in a mouse model of Huntington disease when administered pre-symptomatically and have recently extended this to demonstrate the effectiveness of rapamycin in a transgenic mouse model of spinocerebellar ataxia type 3, a polyglutamine disorder caused by mutations in the ataxin-3 gene."
20081360
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"The NIs in our cases are consistently labeled for ataxin-3, yet genetic screening failed to reveal expanded CAG repeats in ataxin-3 or other diseases causing polyglutamine containing proteins."
14637113
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"The pathology of spinocerebellar ataxia type 3, also known as Machado-Joseph disease, is triggered by aggregation of toxic ataxin-3 (ATXN3) variants containing expanded polyglutamine repeats."
31625269
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"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is a polyglutamine (polyQ) neurodegenerative disorder caused by abnormal (more than 40 repeats) CAG nucleotide repeat expansions in the ataxin-3 (ATXN3) gene, which encodes a protein that is involved in ubiquitin-proteasome system degradation of proteins [XREF_BIBR, XREF_BIBR]."
| PMC
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"Machado-Joseph disease (or spinocerebellar ataxia type 3) is a late-onset polyglutamine neurodegenerative disorder caused by a mutation in the ATXN3 gene, which encodes for the ubiquitously expressed protein ataxin-3."
25914309
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"SCA3 is caused by a CAG repeat expansion in the ATXN3 gene, resulting in an abnormally long polyglutamine stretch in the encoded ATXN3 protein."
28624196