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Machado–Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapyMatos, Carlos A. ; Almeida, Luís Pereira ; Nóbrega, ClévioJournal of neurochemistry, 2019-01, Vol.148 (1), p.8-28 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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The Machado-Joseph Disease Deubiquitinase Ataxin-3 Regulates the Stability and Apoptotic Function of p53Liu, Hongmei ; Li, Xiaoling ; Ning, Guozhu ; Zhu, Shu ; Ma, Xiaolu ; Liu, Xiuli ; Liu, Chunying ; Huang, Min ; Schmitt, Ina ; Wüllner, Ullrich ; Niu, Yamei ; Guo, Caixia ; Wang, Qiang ; Tang, Tie-Shan Bellen, HugoPLoS biology, 2016-11, Vol.14 (11), p.e2000733-e2000733 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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The Machado―Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stabilityDURCAN, Thomas M ; KONTOGIANNEA, Maria ; THORARINSDOTTIR, Thorhildur ; FALLON, Lara ; WILLIAMS, Aislinn J ; DJARMATI, Ana ; FANTANEANU, Tadeu ; PAULSON, Henry L ; FON, Edward AHuman molecular genetics, 2011-01, Vol.20 (1), p.141-154 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Cordycepin activates autophagy through AMPK phosphorylation to reduce abnormalities in Machado-Joseph disease modelsMarcelo, Adriana ; Brito, Filipa ; Carmo-Silva, Sara ; Matos, Carlos A ; Alves-Cruzeiro, João ; Vasconcelos-Ferreira, Ana ; Koppenol, Rebekah ; Mendonça, Liliana ; de Almeida, Luís Pereira ; Nóbrega, ClévioHuman molecular genetics, 2019-01, Vol.28 (1), p.51-63 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Ibuprofen enhances synaptic function and neural progenitors proliferation markers and improves neuropathology and motor coordination in Machado–Joseph disease modelsMendonça, Liliana S ; Nóbrega, Clévio ; Tavino, Silvia ; Brinkhaus, Maximilian ; Matos, Carlos ; Tomé, Sandra ; Moreira, Ricardo ; Henriques, Daniel ; Kaspar, Brian K ; Pereira de Almeida, LuísHuman molecular genetics, 2019-11, Vol.28 (22), p.3691-3703 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Silencing ataxin-3 mitigates degeneration in a rat model of Machado–Joseph disease: no role for wild-type ataxin-3?Alves, Sandro ; Nascimento-Ferreira, Isabel ; Dufour, Noëlle ; Hassig, Raymonde ; Auregan, Gwennaëlle ; Nóbrega, Clévio ; Brouillet, Emmanuel ; Hantraye, Philippe ; Pedroso de Lima, Maria C. ; Déglon, Nicole ; de Almeida, Luís PereiraHuman molecular genetics, 2010-06, Vol.19 (12), p.2380-2394 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Identifying Therapeutic Targets for Spinocerebellar Ataxia Type 3/Machado-Joseph Disease through Integration of Pathological Biomarkers and Therapeutic StrategiesChen, Yu-Shuan ; Hong, Zhen-Xiang ; Lin, Shinn-Zong ; Harn, Horng-JyhInternational journal of molecular sciences, 2020-04, Vol.21 (9), p.3063 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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KPNB1 modulates the Machado–Joseph disease protein ataxin-3 through activation of the mitochondrial protease CLPPAbeditashi, Mahkameh ; Weber, Jonasz Jeremiasz ; Pereira Sena, Priscila ; Velic, Ana ; Kalimeri, Maria ; Incebacak Eltemur, Rana Dilara ; Schmidt, Jana ; Hübener-Schmid, Jeannette ; Hauser, Stefan ; Macek, Boris ; Riess, Olaf ; Schmidt, ThorstenCellular and molecular life sciences : CMLS, 2022-08, Vol.79 (8), p.401-401, Article 401 [Periódico revisado por pares]Cham: Springer International PublishingTexto completo disponível |
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Material Type: Artigo
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Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestorSharony, Reuven ; Martins, Sandra ; Costa, Inês P D ; Zaltzman, Roy ; Amorim, António ; Sequeiros, Jorge ; Gordon, Carlos REuropean journal of human genetics : EJHG, 2019-11, Vol.27 (11), p.1731-1737 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Global DNA methylation is not elevated in blood samples from Machado-Joseph disease mutation carriersTeves, Luís ; Vieira Melo, Ana Rosa ; Ferreira, Ana F. ; Raposo, Mafalda ; Lemos, Carolina ; Bettencourt, Conceição ; Lima, ManuelaEpigenetics, 2024-12, Vol.19 (1), p.2368995 [Periódico revisado por pares]Taylor & FrancisTexto completo disponível |