IndraLab

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ATXN3 activates L-glutamine. 18 / 18
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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."
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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."
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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."
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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."
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"Machado–Joseph disease (MJD, also known as spinocerebellar ataxia type 3 or SCA3) is the most common dominant ataxia in the world and is caused by abnormal expansion of CAG repeats in a coding region of ATXN3, which produces an elongated polyglutamine (polyQ) tract in the Ataxin-3 protein ."
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"The causative gene, ATXN3, leads to the abnormal expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats, producing a potentially harmful polyglutamine protein ."
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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."
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"According to concerns, the overexpression of ATXN3 may promote the abnormally enlarged polyglutamine."
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"SCA3 is caused by a CAG repeat expansion in the MJD1 gene that leads to an expanded polyglutamine (polyQ) tract in the encoded ataxin-3 protein, which makes SCA3 belong to the polyQ-disease family."
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"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an inherited neurodegenerative disorder resulting from a CAG-repeat expansion in the coding region of the ATXN3/MJD[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"The disease is caused by a CAG repeat expansion in the mutant gene, ATXN3, producing an enlarged polyglutamine tract in the mutant protein."
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"Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is caused by the expansion of a genetically unstable polyglutamine-encoding CAG repeat in ATXN3."
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"Mitochondrial dysfunction has been described in many neurodegenerative disorders; however, there is less information regarding mitochondrial deficits in Machado-Joseph disease (MJD), a polyglutamine (polyQ) disorder caused by CAG repeat expansion in the ATXN3 gene."
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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]."
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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."
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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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"MJD is a late-onset polyglutamine neurodegenerative disorder caused by a mutation in the ATXN3 gene, which encodes the ubiquitously expressed protein ataxin-3 [26]."
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"SCA3/MJD is caused by the abnormal CAG expansions of ATXN3 gene on chromosome 14q32.1, causing abnormal polyglutamine (polyQ) stretch in the C-terminal region of the protein, ataxin-3 ( Chen et al., 2[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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