IndraLab

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ATXN3 activates ATXN3. 66 / 72
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"Non pathogenic ataxin-3 has a polyQ stretch less than 40 glutamine repeats, whereas pathogenic ataxin-3 causing SCA3 has that more than 60 glutamine repeats."
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"Machado-Joseph disease (MJD), an autosomal dominant type of spinocerebellar degeneration (SCD), is caused by CAG expansions in the MJD1 gene at chromosome 14q32.1 (Kawaguchi et al., 1994)."
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"SCA3, which is also known as Machado-Joseph disease (MJD), is caused by abnormal polyQ expansion in the deubiquitinase (DUB) ataxin-3."
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"SCA3 is caused by a CAG expansion in the ATXN3 gene for the protein ataxin-3 [XREF_BIBR] with a pathologic expansion number from 52 to 86 [XREF_BIBR]."
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"For instance, the ATXN3 gene usually contains 13-41 CAG repeats [XREF_BIBR]; more than 55 CAG repeats in the ATXN3 gene are pathogenic and can cause spinocerebellar ataxia type 3 (SCA3), which is a condition characterized by progressive problems with movement [XREF_BIBR]."
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"SCA3 is caused by a polyQ expansion in the carboxy-terminal portion of a cytosolic protein ataxin-3 (Atxn3) and primarily affects dentate and pontine nuclei and substantia nigra."
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"SCA3, considered to be the most common dominantly inherited ataxia in the world, is caused by an abnormal CAG expansion in the ATXN3 gene that is normally 12-42 repeats in length, but is expanded to ~ 52-84 repeats in diseased individuals 1."
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"SCA3, which is also known as Machado-Joseph disease (MJD), is caused by abnormal polyQ expansion in the deubiquitinase (DUB) ataxin-3 (Costa Mdo and Paulson, 2012; Matos et al., 2011)."
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"Taking into account the level of ataxin-3 overexpression in the homozygous SCA3 mouse that was used, the lead AON is an exciting candidate for further clinical advancement [213]."
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"The ATXN3 gene , which causes SCA3 , also known as Machado-Joseph Disease ( MJD ) , contains a CAG repeat that is expanded in disease ."
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"SCA3 is caused by a CAG-repeat expansion in the ATXN3 gene on chromosome 14q24.3-q32.2, which results in an abnormally long polyglutamine tract in the ataxin-3 protein XREF_BIBR."
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"A polyglutamine expansion mutation in ataxin-3 causes spinocerebellar ataxia type 3 (SCA3), thereby providing a further link between ubiquitin dependent protein quality control mechanisms and neurodegeneration XREF_BIBR, XREF_BIBR."
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"[XREF_BIBR] SCA3 is caused by an expanded CAG repeat in exon 10 of ATXN3."
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"SCA3 is caused by polyglutamine expansion in ataxin-3."
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"Notably, overexpression of ATX-3 induced up-regulations of CDNK1A and BBC3 but a down-regulation of CCNB1, which required both the DUB activity and the poly-Ub binding ability of ATX-3 (XREF_SUPPLEMENTARY)."
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"SCA3 is caused by a polyQ expansion in the carboxy-terminal portion of a cytosolic protein ataxin-3 (Atxn3)."
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"SCA3 (also called Machado-Joseph Disease, MJD), is caused by CAG repeat expansion in the ATXN3 encoding gene."
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"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is caused by an unstable CAG repeat expansion in the ataxin-3 (ATXN3) gene leading to an expansion of polyglutamines in the C-terminus of the corresponding protein, ataxin-3 [XREF_BIBR, XREF_BIBR]."
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"SCA2 and SCA3 are caused by polyglutamine expansions in ataxin2 and ataxin3, respectively [XREF_BIBR, XREF_BIBR]."
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"Protein casein kinase 2 (CK2) and glycogen synthase kinase 3beta (GSK3beta) phosphorylate ATXN3 at S29, which promotes ATXN3 nuclear localisation and thus contributes to the pathogenesis of SCA3."
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"SCA3 is caused by an unstable cytosine-adenine-guanine (CAG) trinucleotide expansion mutation in the ATXN3 gene leading to an expanded polyQ tract within the ataxin-3 (ATX-3) protein [XREF_BIBR]."
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"Ataxin gene variants in ATXN1, ATXN2, ATXN3, and ATXN7 cause SCA1, SCA2, SCA3, and SCA7, respectively."
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"SCA3 is caused by abnormal triplet CAG repeat expansion in the gene ATXN3 that is normally 12-42 repeats in length, but is expanded to ~ 60-84 in patients."
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"Spinocerebellar ataxia type 3 (SCA3), the most common spinocerebellar ataxia, is caused by a polyglutamine (polyQ) expansion in the protein ataxin-3 (ATXN3)."
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"The finding that the Josephin domain of ataxin-3 contains highly aggregation-prone nonpolyQ elements opens new questions about the role of polyQ expansions in promoting ataxin-3 aggregation : Why does ataxin-3 cause SCA3 pathology only on polyQ expansion?"
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"However, only ataxin-3 containing an expanded polyQ tract leads to SCA3."
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"In addition, ATXN3 SUMOylation by SUMO-1 on site K166 also increases apoptosis in SCA3; therefore, SUMOylation by SUMO-1 might stimulate SCA3 pathogenesis through both effects described above."
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"Ataxin-3 misfolding and its subsequent aggregation underlies the autosomal dominant neurodegenerative disease Spinocerebellar ataxia type 3 (SCA3)."
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"A similar study investigated the expression of ataxin3, the ortholog of ATXN3 whose polyQ pathological expansion causes Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (MJD/SCA3) (Matos et al., 2019)."
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"SCA3 is caused by a CAG repeat expansion in the ATXN3 gene that encodes an expanded tract of polyglutamine in the disease protein ataxin-3 (ATXN3)."
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"The CAG repeat expansion in the coding region of ATXN3 causes spinocerebellar ataxia type 3 (SCA3) ."
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"Given the clear implication of ubiquitin pathway genes in retinal development and pathology and the genetic link between cerebellar dysfunction and retinal anomalies in other SCAs (McLaughlin and Dryja, 2002), we aimed to explore the function of ATXN3, whose mutation causes MJD/SCA3, in the retina."
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"An obvious candidate gene in this region was Ataxin-3 (ATXN3), because expansion of a coding CAG repeat in ATXN3 causes spinocerebellar ataxia type 3 (SCA3 or Machado-Joseph disease [MJD, MIM 109150])[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"Spinocerebellar ataxia type 3 (SCA3) is caused by an expanded polyglutamine stretch in ataxin-3."
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"What if the differential toxicity we observe with isoforms 1 and 2 of SCA3 causing ataxin-3 is due to developmental problems?"
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"How pathogenic expansion of the polyQ region of ataxin-3 causes SCA3 is unknown."
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"SCA3 is caused by a CAG repeat expansion in the ATXN3 gene that encodes an expanded tract of polyglutamine (polyQ) in the disease protein ataxin-3 (ATXN3)."
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"SCA3 is caused by a CAG trinucleotide repeat expansion in the ATXN3 gene [26]."
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"Machado-Joseph disease (MJD), the most common dominantly inherited ataxia worldwide, is caused by a polyglutamine (polyQ) expansion in the deubiquitinating (DUB) enzyme ataxin-3."
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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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"The most important point of our study is that polyQ ATXN3 levels were elevated in urine derived from patients with SCA3, and could distinguish SCA3 patients from healthy controls and other forms of ataxia patients (negative for mutations on ATXN3)."
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"MJD and SCA3 is caused by ataxin-3 with a stretch of 54-84 consecutive glutamines (mutant ataxin-3); normal ataxin-3 has 14-37 (Kawaguchi et al., 1994; van Alfen et al., 2001)."
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"In addition, a new humanized ataxin-3 knock-in mouse model displaying late disease onset produces SCA3 neuropathology in both neurons and glia [302]."
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"SCA3 is caused by a mutation in the SCA3 and MJD gene on chromosome 14q32, which encodes the ataxin 3 protein."
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"Thus it is possible that, in the farther, the short CAG repeat in the non expanded ATXN3 allele delayed the onset of cerebellar symptoms, and/or that the expanded CTG repeat in the DMPK gene in the patient accelerated the pathogenesis of MJD and SCA3."
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"We found that mutating UbS2 of SCA3 causing ataxin-3 reduces its steady-state levels in cultured mammalian cells (XREF_FIG)."
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"SCA3 and MJD, which is the most common dominantly inherited ataxia in China and other countries [XREF_BIBR - XREF_BIBR], is caused by an unstable CAG trinucleotide repeat expansions in the ATXN3 gene."
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"Spinocerebellar ataxia type 3 (SCA3), caused by a CAG repeat expansion in the ataxin-3 gene (ATXN3), is characterized by neuronal polyglutamine (polyQ) ATXN3 protein aggregates."
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"Spinocerebellar ataxia type 3 (SCA3) is caused by a CAG and polyglutamine repeat expansion in the SCA3 gene."
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"Polyglutamine expanded ataxin-3 causes cerebellar dysfunction of SCA3 transgenic mice by inducing transcriptional dysregulation."
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"However, our studies consistently found that ataxin-3 ubiquitination primarily enhances the deubiquitinase activities of ataxin-3 and upregulates its cellular functions, without enhancing its own degradation by the proteasome (Todi et al., 2009, 2010; Tsou et al., 2013)."
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"SCA3 is caused by polyglutamine expansion of the Ataxin-3 gene and is the most common inherited cerebellar ataxia in some populations [XREF_BIBR]."
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"The polyglutamine (polyQ)-containing protein ataxin-3 (AT3) triggers the neurodegenerative disease spinocerebellar ataxia type 3 (SCA3) when its polyQ tract is expanded beyond a critical length."
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"The ATXN3 gene, which causes SCA3, also known as Machado-Joseph Disease (MJD), contains a CAG repeat that is expanded in disease."
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"Two full-length ataxin-3 protein variants arise from alternative splicing of the ATXN3 gene, in which the abnormal expansion of a polyQ encoding CAG triplet repeat causes SCA3."
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"Spinocerebellar ataxia type 3 (SCA3) is caused by unstable expanded CAG repeats (expCAGs) in ATXN3."
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"Also known as Machado-Joseph disease, SCA3 is caused by the expansion of a polyQ stretch in ataxin-3."
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"Previously, we demonstrated that symptoms of SCA3 are reversible in the first conditional mouse model for SCA3 directing ataxin-3 predominantly to the hindbrain."
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"We observed that the levels of activated p-p53 S15 increased in MEF 148Q cells and in SCA3 mouse brains in contrast to its suppression by wild-type ataxin-3 (increase in MEF KO cells)."
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"Mutating the UIMs does not alter degradation, suggesting that UIM mediated oligoubiquitination of ataxin-3 modulates ataxin-3 function rather than stability."
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"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of SCA world-wide, [XREF_BIBR XREF_BIBR] and is caused by a pathologic CAG trinucleotide repeat expansion in the ATXN3 gene located on chromosome 14q32.12."
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"SCA3 is caused by an expanded stretch of CAG triplets in the coding region of the ATXN3 gene on chromosome 14q32.1, encoding the ataxin-3 protein [XREF_BIBR]."
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"The ubiquitination of ATXN3, primarily at site K117, activates the DUB function of ATXN3 through a conformational switch, which improves the editing of Ub chains on substrates."
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"XREF_BIBR, XREF_BIBR Here we evaluate the efficiency of non-allele-specific ASOs targeting human ATXN3 in two complementary transgenic mouse models of SCA3 : the yeast artificial chromosome (YAC) MJD-Q84.2 (Q84) model expressing the full-length human ATXN3 disease gene with 84 CAG repeats, and the cytomegalovirus (CMV) MJD-Q135 (Q135) model expressing a single human ATXN3 isoform from an ATXN3 cDNA with 135 CAG repeats."
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"Spinocerebellar ataxia type 3 (SCA3) is caused by an unstable CAG trinucleotide repeat expansion in the ataxin 3 (ATXN3) gene on chromosome 14."
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"For example, spinocerebellar ataxia type 3 (SCA3), which is characterized by progressive dysfunction of the cerebellum and brain stem, is caused by polyglutamine (polyQ) expansion in the ataxin-3 gene."
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