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ATXN3 activates ATXN3. 99 / 105
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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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"From the perspective of neuropathological features, SCA3/MJD is caused by abnormal CAG repeat amplification of the ATXN3 gene [ 19 ]."
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"SCA3, caused by an expanded CAG repeat in the ATXN3 gene (Kawaguchi et al., 1994), is one of the most common dominantly inherited ataxias worldwide (Gaspar et al., 2001, Schols et al., 2004) and is characterized by cerebellar degeneration and progressive ataxia."
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"Therefore, the higher PVS burden in SCA3 patients may cause a significant accumulation of ataxin-3 protein as the disease progresses.In the SCA3 patients, the highest PVS burden areas and density were primarily located in the white matter of the parietal lobes and basal ganglia."
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"MJD is caused by deubiquitinase ataxin-3 carrying a stretch of approximately 60–87 glutamines in affected patients."
30036587
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"SCA3 is caused by a CAG repeat expansion in the exon 10 of the ataxin-3 (ATXN3) gene and typically manifests with dysfunction and degeneration of neurons in cerebellum and spinocerebellar tracts [4]."
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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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"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 mutation in the SCA3 and MJD gene on chromosome 14q32, which encodes the ataxin 3 protein."
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"SCA3 is caused by a CAG repeat expansion in the ATXN3 gene on chromosome 14q32.1 which results in an abnormally long polyglutamine tract in the ataxin-3 protein."
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"Although the CAG-expansion in ATXN3 is known to cause SCA3, the underlying cellular mechanisms leading to neurodegeneration are not fully elucidated."
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"Exposing SCA3 iPSC-derived neurons to 100 μM glutamate has been reported to induce SDS-insoluble ataxin-3 aggregates ( Koch et al., 2011 )."
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"Abnormal expansion of glutamine residues in the C-terminus of ATXN3 causes MJD ( Koch et al., 2011 )."
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"SCA3 is caused by a CAG repeat expansion of the ATXN3 gene and is transmitted in an autosomal dominant manner and located on chromosomal position 14q32."
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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 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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"Interestingly, N-terminal fragments of Atx3 lacking the polyQ stretch were shown to induce an MJD-like phenotype in mice and led to mitochondrial perturbations in cell models, pointing toward their participation in the molecular pathogenesis (Hübener et al., 2011; Harmuth et al., 2018)."
36385755
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"It is unclear how polyQ expansion in Atxn3 causes SCA3."
37865002
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"Spinocerebellar ataxia type 3 (SCA3) is caused by an expanded polyglutamine stretch in ataxin-3."
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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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"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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"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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"Spinocerebellar ataxia type 3 (SCA3) is caused by unstable expanded CAG repeats (expCAGs) in ATXN3."
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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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"Co-expression of wild-type ataxin-3 and pathogenic polyQ-expanded ataxin-3 restored the degeneration of Drosophila eyes that is observed with expression of polyQ-expanded ataxin-3 alone, and flies co-expressing both forms of ataxin-3 lived longer than flies expressing only the pathogenic form [162]."
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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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"Also, defective aggresome formation was found in ATXN3 siRNA knockdown cells, which was reversed by overexpression of ATXN3 protein [25]."
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"SCA3 is caused by the presence of abnormal CAG repeats occurring in the ataxin-3 ( ATXN3 ) gene located at chromosome 14q32.1 ( Lima and Coutinho, 1980 )."
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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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"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 SCA3 mouse lines used above overexpress wild-type or polyQ-expanded human ATXN3."
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"Our data demonstrate that DNAJB6 levels are a crucial factor in determining sensitivity to polyQ-related amyloidosis.To study aggregation of endogenous, full-length proteins with expanded polyglutamin[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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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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"However, only ataxin-3 containing an expanded polyQ tract leads to SCA3."
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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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"Among SCA, SCA3 is caused by a mutation in the ATXN3 (ataxin-3) gene."
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"For instance, the ATXN3 gene, in which abnormal expansion of CAG trinucleotide repeats will cause SCA3."
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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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"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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"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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"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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"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.Because humans, mice, and zebrafish show similar mature retinal structures (Figure 1A), here, we combine in vivo zebrafish and mouse models and in vitro cells."
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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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"SCA3 (also called Machado-Joseph Disease, MJD), is caused by CAG repeat expansion in the ATXN3 encoding gene."
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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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"SCA2 and SCA3 are caused by polyglutamine expansions in ataxin2 and ataxin3, respectively [XREF_BIBR, 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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"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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"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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"The CAG repeat expansion in the coding region of ATXN3 causes spinocerebellar ataxia type 3 (SCA3) ."
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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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"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."
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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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"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 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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"SCA3 is caused by polyglutamine expansion in ataxin-3."
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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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"How pathogenic expansion of the polyQ region of ataxin-3 causes SCA3 is unknown."
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"[XREF_BIBR] SCA3 is caused by an expanded CAG repeat in exon 10 of ATXN3."
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"MJD is caused by a polyglutamine (PolyQ)-encoding CAG repeat expansion in the MJD1 gene (ATXN3), which leads to aggregation of the polyQ fragment, predominantly in neurons."
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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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"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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"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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"Huntington’s disease (HD) and spinocerebellar ataxia type 3 (SCA3, also called Machado-Joseph disease) are caused by extensive polyglutamine (polyQ) expansion of the huntingtin or ataxin-3 protein [334]."
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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, 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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"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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"SCA3 is caused by a heterozygous (CAG)/polyglutamine expansion of the ataxin-3 gene (Kawaguchi et al., 1994)."
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"MJD is caused by an abnormal CAG repeat expansion in the ATXN3 gene located at chromosome 14q32.1 [1] ."
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"SCA3, caused by an expanded CAG repeat in the ATXN3 gene (Kawaguchi et al., 1994), is one of the most common dominantly inherited ataxias worldwide (Gaspar et al., 2001; Schols et al., 2004) and is characterized by cerebellar degeneration and progressive ataxia."
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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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"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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"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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"SCA3 is caused by a polyQ expansion in the carboxy-terminal portion of a cytosolic protein ataxin-3 (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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"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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"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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"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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"Prior to this, an algorithm called RepeatHMM was published and shown to be able to accurately measure pathogenic CAG expansions in the ATXN3 gene causing Machado-Joseph disease/SCA3 and long expansions of ATTCT repeats resulting in SCA10 (Liu et al. 2017)."
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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."
33087504
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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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"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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"This proteotoxic Ataxin 3 underlies the manifestation of the neurodegenerative disorder “Machado Joseph Disease” (MJD) in humans (Durcan and Fon, 2013)."
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"Polyglutamine expanded ataxin-3 causes cerebellar dysfunction of SCA3 transgenic mice by inducing transcriptional dysregulation."
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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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"Polyglutamine expansion in Ataxin 3 causes SCA3, one of the polyglutamine-mediated neurodegenerative disorders characterized by the loss of cells in several regions of the brain stem and cerebellum [4[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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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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"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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"In addition to carrying an FGF14 (GAA) -[(GAA) (GCA) ] expansion, she was found to carry an ATXN3 (CAG) expansion causing SCA3 (Fig. 5a and d, Supplementary Table S3)."
38513302
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"CAG-polyglutamine (polyQ) repeat expansions in ATXN3 cause the neurodegenerative disorder spinocerebellar ataxia type 3 (SCA3)."
36737438
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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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"Ataxin gene variants in ATXN1, ATXN2, ATXN3, and ATXN7 cause SCA1, SCA2, SCA3, and SCA7, respectively."
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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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"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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"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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"SCA3 is caused by a CAG trinucleotide repeat expansion in the ATXN3 gene [26]."
30607747
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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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"PolyQ expansion of the protein ataxin-3, a deubiquitinating enzyme (DUB), causes SCA3, also known as Machado-Joseph disease [128]."
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"More recently Mueller and coworkers [25] showed that ATXN3 phosphorylation by CK2 on S340 and S352 promotes ATXN3 nuclear uptake."
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