Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells

Autor: Sara Duarte-Silva, Ana Freitas, João B. Relvas, Patrícia Maciel, Elsa Logarinho, Margarida Isabel Barros Coelho Martins, Anabela Silva-Fernandes, Maria do Carmo Costa, Peter Heutink, André T. Lopes, Andreia Neves-Carvalho, Henry L. Paulson, Sofia Cravino Serra

Publikováno v: Human molecular genetics 24(1), 100-117 (2014). doi:10.1093/hmg/ddu422
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
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The physiological function of Ataxin-3 (ATXN3), a deubiquitylase (DUB) involved in Machado–Joseph Disease (MJD), remains elusive. In this study, we demonstrate that ATXN3 is required for neuronal differentiation and for normal cell morphology, cyto

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