KPNB1 modulates the Machado-Joseph disease protein ataxin-3 through activation of the mitochondrial protease CLPP. | KPNB1 modulates the Machado-Joseph disease protein ataxin-3 through activation of the mitochondrial protease CLPP. Abeditashi M, Weber JJ, Pereira Sena P, Velic A, Kalimeri M, Incebacak Eltemur RD, Schmidt J, Hübener-Schmid J, Hauser S, Macek B, Riess O, Schmidt T., Free PMC Article | 07/16/2022 |
A Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3 Disease Phenotype Including Neuropathological, Behavioral, and Transcriptional Abnormalities Especially in Oligodendrocytes. | A Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3 Disease Phenotype Including Neuropathological, Behavioral, and Transcriptional Abnormalities Especially in Oligodendrocytes. Haas E, Incebacak RD, Hentrich T, Huridou C, Schmidt T, Casadei N, Maringer Y, Bahl C, Zimmermann F, Mills JD, Aronica E, Riess O, Schulze-Hentrich JM, Hübener-Schmid J., Free PMC Article | 04/2/2022 |
Ubiquilin-2 differentially regulates polyglutamine disease proteins. | Ubiquilin-2 differentially regulates polyglutamine disease proteins. Gerson JE, Safren N, Fischer S, Patel R, Crowley EV, Welday JP, Windle AK, Barmada S, Paulson HL, Sharkey LM., Free PMC Article | 09/4/2021 |
ATXN3 positively regulates type I IFN antiviral response by deubiquitinating and stabilizing HDAC3 | ATXN3 Positively Regulates Type I IFN Antiviral Response by Deubiquitinating and Stabilizing HDAC3. Feng Q, Miao Y, Ge J, Yuan Y, Zuo Y, Qian L, Liu J, Cheng Q, Guo T, Zhang L, Yu Z, Zheng H. | 07/6/2019 |
Loss of the Spinocerebellar Ataxia type 3 disease protein ATXN3 alters transcription of multiple signal transduction pathways | Loss of the Spinocerebellar Ataxia type 3 disease protein ATXN3 alters transcription of multiple signal transduction pathways. Zeng L, Zhang D, McLoughlin HS, Zalon AJ, Aravind L, Paulson HL., Free PMC Article | 03/9/2019 |
findings identify a novel molecular link between ATX-3 and p53-mediated cell death and provide an explanation for the direct involvement of p53 in SCA3 disease pathogenesis | The Machado-Joseph Disease Deubiquitinase Ataxin-3 Regulates the Stability and Apoptotic Function of p53. Liu H, Li X, Ning G, Zhu S, Ma X, Liu X, Liu C, Huang M, Schmitt I, Wüllner U, Niu Y, Guo C, Wang Q, Tang TS., Free PMC Article | 05/27/2017 |
We show that chronic VPA treatment did not modify the ATXN3 inclusion load and astrogliosis in affected brain regions However, VPA chronic treatment was able to increase GRP78 protein levels at 30 weeks of age, one of its known neuroprotective effects | Limited Effect of Chronic Valproic Acid Treatment in a Mouse Model of Machado-Joseph Disease. Esteves S, Duarte-Silva S, Naia L, Neves-Carvalho A, Teixeira-Castro A, Rego AC, Silva-Fernandes A, Maciel P., Free PMC Article | 06/28/2016 |
work suggests that in Machado-Joseph disease, mutant ataxin-3 drives an abnormal reduction of ataxin-2 levels, which overactivates poly(A)-binding protein, increases translation of mutant ataxin-3 and other proteins and aggravates Machado-Joseph disease. | Re-establishing ataxin-2 downregulates translation of mutant ataxin-3 and alleviates Machado-Joseph disease. Nóbrega C, Carmo-Silva S, Albuquerque D, Vasconcelos-Ferreira A, Vijayakumar UG, Mendonça L, Hirai H, de Almeida LP. | 05/7/2016 |
SCA3 knockin mice exhibit robust Atxn3 accumulation both in regions known to be affected in human disease; also display altered splicing of the mutant Atxn3 transcript that results in the formation of a previously described alternative ATXN3 transcript | A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript. Ramani B, Harris GM, Huang R, Seki T, Murphy GG, Costa Mdo C, Fischer S, Saunders TL, Xia G, McEachin RC, Paulson HL., Free PMC Article | 11/21/2015 |
Data support the importance of ATXN3 in neuronal cells and indicate that an expanded polyQ tract leads to a partial loss of the cellular function of ATXN3 that may be relevant to neurodegeneration. | Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells. Neves-Carvalho A, Logarinho E, Freitas A, Duarte-Silva S, Costa Mdo C, Silva-Fernandes A, Martins M, Serra SC, Lopes AT, Paulson HL, Heutink P, Relvas JB, Maciel P., Free PMC Article | 08/29/2015 |
While ataxin-3 may participate in protein quality control pathways, it does not critically regulate the handling of mutant htt or contribute to major features of disease pathogenesis in Huntington disease. | The de-ubiquitinating enzyme ataxin-3 does not modulate disease progression in a knock-in mouse model of Huntington disease. Zeng L, Tallaksen-Greene SJ, Wang B, Albin RL, Paulson HL., Free PMC Article | 10/25/2014 |
Results suggest that postnatal nuclear accumulation of mutant ataxin-3 disrupts dendritic differentiation and mGluR-signaling in mouse model spinocerebellar ataxia type 3 Purkinje cells | Mutant ataxin-3 with an abnormally expanded polyglutamine chain disrupts dendritic development and metabotropic glutamate receptor signaling in mouse cerebellar Purkinje cells. Konno A, Shuvaev AN, Miyake N, Miyake K, Iizuka A, Matsuura S, Huda F, Nakamura K, Yanagi S, Shimada T, Hirai H. | 09/27/2014 |
Lentiviral-based expression of mutant atxn-3 in the mouse cerebellum induces localized neuropathology sufficient to generate a behavioral ataxic phenotype. | Overexpression of mutant ataxin-3 in mouse cerebellum induces ataxia and cerebellar neuropathology. Nóbrega C, Nascimento-Ferreira I, Onofre I, Albuquerque D, Conceição M, Déglon N, de Almeida LP. | 03/8/2014 |
Cerebellar soluble mutant ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia Type 3 mice. | Cerebellar soluble mutant ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia Type 3 mice. Nguyen HP, Hübener J, Weber JJ, Grueninger S, Riess O, Weiss A., Free PMC Article | 11/30/2013 |
the efficacy of gene silencing in blocking the MJD-associated motor-behavior and neuropathological abnormalities | Silencing mutant ataxin-3 rescues motor deficits and neuropathology in Machado-Joseph disease transgenic mice. Nóbrega C, Nascimento-Ferreira I, Onofre I, Albuquerque D, Hirai H, Déglon N, de Almeida LP., Free PMC Article | 07/13/2013 |
the sequestration of misfolded SOD1 into aggresomes, which is driven by ataxin-3, plays an important role in attenuating protein misfolding-induced cell toxicity. | Ataxin-3 regulates aggresome formation of copper-zinc superoxide dismutase (SOD1) by editing K63-linked polyubiquitin chains. Wang H, Ying Z, Wang G., Free PMC Article | 11/3/2012 |
Human calpastatin promotes neuroprotection by decreasing mutant ataxin 3 fragment production in transgenic mice. | Calpastatin-mediated inhibition of calpains in the mouse brain prevents mutant ataxin 3 proteolysis, nuclear localization and aggregation, relieving Machado-Joseph disease. Simões AT, Gonçalves N, Koeppen A, Déglon N, Kügler S, Duarte CB, Pereira de Almeida L. | 10/20/2012 |
we propose that -1 ribosomal frameshifting contributes to the toxicity associated with (exp)CAG repeats. | Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models. Stochmanski SJ, Therrien M, Laganière J, Rochefort D, Laurent S, Karemera L, Gaudet R, Vyboh K, Van Meyel DJ, Di Cristo G, Dion PA, Gaspar C, Rouleau GA. | 09/15/2012 |
an unexpected convergence upon the E2 Ub-conjugating enzyme in the regulation of an E3/deubiquitinating enzyme pair, with important implications for the function of parkin and ataxin-3 | Ataxin-3 deubiquitination is coupled to Parkin ubiquitination via E2 ubiquitin-conjugating enzyme. Durcan TM, Kontogiannea M, Bedard N, Wing SS, Fon EA., Free PMC Article | 05/12/2012 |
This study demonistrated that n-terminal ataxin-3 causes neurological symptoms with inclusions, endoplasmic reticulum stress and ribosomal dislocation in mice. | N-terminal ataxin-3 causes neurological symptoms with inclusions, endoplasmic reticulum stress and ribosomal dislocation. Hübener J, Vauti F, Funke C, Wolburg H, Ye Y, Schmidt T, Wolburg-Buchholz K, Schmitt I, Gardyan A, Driessen S, Arnold HH, Nguyen HP, Riess O. | 08/27/2011 |
Activity and cellular functions of the deubiquitinating enzyme and polyglutamine disease protein ataxin-3 are regulated by ubiquitination at lysine 117 | Activity and cellular functions of the deubiquitinating enzyme and polyglutamine disease protein ataxin-3 are regulated by ubiquitination at lysine 117. Todi SV, Scaglione KM, Blount JR, Basrur V, Conlon KP, Pastore A, Elenitoba-Johnson K, Paulson HL., Free PMC Article | 01/15/2011 |
Data show that the absence of ATXN3 leads to an overt cytoskeletal/adhesion defect raising the possibility that this protein may play a role in the cytoskeleton. | Absence of ataxin-3 leads to cytoskeletal disorganization and increased cell death. Rodrigues AJ, do Carmo Costa M, Silva TL, Ferreira D, Bajanca F, Logarinho E, Maciel P. | 10/30/2010 |
Ataxin-3 is important for myogenesis through regulation of integrin subunit levels. | Ataxin-3 plays a role in mouse myogenic differentiation through regulation of integrin subunit levels. do Carmo Costa M, Bajanca F, Rodrigues AJ, Tomé RJ, Corthals G, Macedo-Ribeiro S, Paulson HL, Logarinho E, Maciel P., Free PMC Article | 10/30/2010 |
CK2 and GSK3 phosphorylation on S29 controls wild-type ATXN3 nuclear uptake. | CK2 and GSK3 phosphorylation on S29 controls wild-type ATXN3 nuclear uptake. Pastori V, Sangalli E, Coccetti P, Pozzi C, Nonnis S, Tedeschi G, Fusi P. | 08/16/2010 |
We therefore conclude that overexpressing wild type ataxin-3 or mutant ataxin-3 with NES are not striking suppressors of polyglutamine-induced neurodegeneration and have thus no potential for future gene therapeutic interventions in SCA3. | Polyglutamine-induced neurodegeneration in SCA3 is not mitigated by non-expanded ataxin-3: conclusions from double-transgenic mouse models. Hübener J, Riess O. | 06/28/2010 |