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- CYP46A1- gene therapy improves Machado-Joseph disease in mouse modelsPublication . Nóbrega, Clévio; Mendonca, L. S.; Marcelo, Adriana; Lamaziere, A.; Tome, S.; Despres, G.; Matos, C.; Mechmet, Fatich; Langui, D.; den Dunnen, W.; de Almeida, L. P.; Cartier, N.; Alves, S.Aims/Context: Machado-Joseph Disease (MJD) is a neurodegenerative disease associated with extensive neuronal death. Defects in brain cholesterol metabolism may contribute to neurodegenerative diseases.