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Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease
Raposo, Mafalda; Bettencourt, Conceição; Maciel, P.; Gao, Fuying; Ramos, Amanda; Kazachkova, Nadiya; Vasconcelos, João; Kay, Teresa; Rodrigues, Ana JoãoBACKGROUND: Machado-Joseph disease (or spinocerebellar ataxia type 3) is a late-onset polyglutamine neurodegenerative disorder caused by a mutation in the ATXN3 gene, which encodes for the ubiquitously expressed protein ataxin-3. Previous studies on cell and animal models have suggested that mutated ataxin-3 is involved in transcriptional dysregulation. Starting with a whole-transcriptome profiling of periphera...
Data: 2015
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Origem: RepositóriUM - Universidade do Minho