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689 related items for PubMed ID: 22133674

  • 1. Toward understanding Machado-Joseph disease.
    Costa Mdo C, Paulson HL.
    Prog Neurobiol; 2012 May; 97(2):239-57. PubMed ID: 22133674
    [Abstract] [Full Text] [Related]

  • 2. Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3.
    Gao R, Liu Y, Silva-Fernandes A, Fang X, Paulucci-Holthauzen A, Chatterjee A, Zhang HL, Matsuura T, Choudhary S, Ashizawa T, Koeppen AH, Maciel P, Hazra TK, Sarkar PS.
    PLoS Genet; 2015 Jan; 11(1):e1004834. PubMed ID: 25590633
    [Abstract] [Full Text] [Related]

  • 3. Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: removal of the CAG containing exon.
    Evers MM, Tran HD, Zalachoras I, Pepers BA, Meijer OC, den Dunnen JT, van Ommen GJ, Aartsma-Rus A, van Roon-Mom WM.
    Neurobiol Dis; 2013 Oct; 58():49-56. PubMed ID: 23659897
    [Abstract] [Full Text] [Related]

  • 4. Druggable genome screen identifies new regulators of the abundance and toxicity of ATXN3, the Spinocerebellar Ataxia type 3 disease protein.
    Ashraf NS, Sutton JR, Yang Y, Ranxhi B, Libohova K, Shaw ED, Barget AJ, Todi SV, Paulson HL, Costa MDC.
    Neurobiol Dis; 2020 Apr; 137():104697. PubMed ID: 31783119
    [Abstract] [Full Text] [Related]

  • 5. Machado-Joseph disease/spinocerebellar ataxia type 3.
    Paulson H.
    Handb Clin Neurol; 2012 Apr; 103():437-49. PubMed ID: 21827905
    [Abstract] [Full Text] [Related]

  • 6. ATXN3: a multifunctional protein involved in the polyglutamine disease spinocerebellar ataxia type 3.
    Hernández-Carralero E, Quinet G, Freire R.
    Expert Rev Mol Med; 2024 Sep 25; 26():e19. PubMed ID: 39320846
    [Abstract] [Full Text] [Related]

  • 7. Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease.
    Koch P, Breuer P, Peitz M, Jungverdorben J, Kesavan J, Poppe D, Doerr J, Ladewig J, Mertens J, Tüting T, Hoffmann P, Klockgether T, Evert BO, Wüllner U, Brüstle O.
    Nature; 2011 Nov 23; 480(7378):543-6. PubMed ID: 22113611
    [Abstract] [Full Text] [Related]

  • 8. Compromised mitochondrial complex II in models of Machado-Joseph disease.
    Laço MN, Oliveira CR, Paulson HL, Rego AC.
    Biochim Biophys Acta; 2012 Feb 23; 1822(2):139-49. PubMed ID: 22037589
    [Abstract] [Full Text] [Related]

  • 9. Polyglutamine diseases: the special case of ataxin-3 and Machado-Joseph disease.
    Matos CA, de Macedo-Ribeiro S, Carvalho AL.
    Prog Neurobiol; 2011 Sep 15; 95(1):26-48. PubMed ID: 21740957
    [Abstract] [Full Text] [Related]

  • 10. A fine balance between Prpf19 and Exoc7 in achieving degradation of aggregated protein and suppression of cell death in spinocerebellar ataxia type 3.
    Chen ZS, Huang X, Talbot K, Chan HYE.
    Cell Death Dis; 2021 Feb 02; 12(2):136. PubMed ID: 33542212
    [Abstract] [Full Text] [Related]

  • 11. The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3'-phosphatase in spinocerebellar ataxia type 3 pathogenesis.
    Chatterjee A, Saha S, Chakraborty A, Silva-Fernandes A, Mandal SM, Neves-Carvalho A, Liu Y, Pandita RK, Hegde ML, Hegde PM, Boldogh I, Ashizawa T, Koeppen AH, Pandita TK, Maciel P, Sarkar PS, Hazra TK.
    PLoS Genet; 2015 Jan 02; 11(1):e1004749. PubMed ID: 25633985
    [Abstract] [Full Text] [Related]

  • 12. A new humanized ataxin-3 knock-in mouse model combines the genetic features, pathogenesis of neurons and glia and late disease onset of SCA3/MJD.
    Switonski PM, Szlachcic WJ, Krzyzosiak WJ, Figiel M.
    Neurobiol Dis; 2015 Jan 02; 73():174-88. PubMed ID: 25301414
    [Abstract] [Full Text] [Related]

  • 13. The Machado-Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability.
    Durcan TM, Kontogiannea M, Thorarinsdottir T, Fallon L, Williams AJ, Djarmati A, Fantaneanu T, Paulson HL, Fon EA.
    Hum Mol Genet; 2011 Jan 01; 20(1):141-54. PubMed ID: 20940148
    [Abstract] [Full Text] [Related]

  • 14. The deubiquitinase function of ataxin-3 and its role in the pathogenesis of Machado-Joseph disease and other diseases.
    Potapenko A, Davidson JM, Lee A, Laird AS.
    Biochem J; 2024 Mar 20; 481(6):461-480. PubMed ID: 38497605
    [Abstract] [Full Text] [Related]

  • 15. Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease-Robust Tools for Direct and Indirect Detection of the ATXN3 (CAG)n Repeat Expansion.
    Lian M, Tan VJ, Taguchi R, Zhao M, Phang GP, Tan AS, Liu S, Lee CG, Chong SS.
    Int J Mol Sci; 2024 Jul 24; 25(15):. PubMed ID: 39125643
    [Abstract] [Full Text] [Related]

  • 16. Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
    Raposo M, Hübener-Schmid J, Tagett R, Ferreira AF, Vieira Melo AR, Vasconcelos J, Pires P, Kay T, Garcia-Moreno H, Giunti P, Santana MM, Pereira de Almeida L, Infante J, van de Warrenburg BP, de Vries JJ, Faber J, Klockgether T, Casadei N, Admard J, Schöls L, Riess O, European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group, Costa MDC, Lima M.
    Neurobiol Dis; 2024 Apr 24; 193():106456. PubMed ID: 38423193
    [Abstract] [Full Text] [Related]

  • 17. Autophagy in Spinocerebellar Ataxia Type 3: From Pathogenesis to Therapeutics.
    Paulino R, Nóbrega C.
    Int J Mol Sci; 2023 Apr 17; 24(8):. PubMed ID: 37108570
    [Abstract] [Full Text] [Related]

  • 18. Comparison of spinocerebellar ataxia type 3 mouse models identifies early gain-of-function, cell-autonomous transcriptional changes in oligodendrocytes.
    Ramani B, Panwar B, Moore LR, Wang B, Huang R, Guan Y, Paulson HL.
    Hum Mol Genet; 2017 Sep 01; 26(17):3362-3374. PubMed ID: 28854700
    [Abstract] [Full Text] [Related]

  • 19. Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro.
    Chai Y, Koppenhafer SL, Shoesmith SJ, Perez MK, Paulson HL.
    Hum Mol Genet; 1999 Apr 01; 8(4):673-82. PubMed ID: 10072437
    [Abstract] [Full Text] [Related]

  • 20. [Polyglutamine-expanded ataxin-3 is degraded by autophagy].
    Xiao H, Tang J, Hu Z, Tan J, Tang B, Jiang Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Feb 01; 27(1):23-8. PubMed ID: 20140862
    [Abstract] [Full Text] [Related]

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