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ULK overexpression mitigates motor deficits and neuropathology in mouse models ...

Vasconcelos-Ferreira, Ana; Martins, Inês Morgado; Lobo, Diana; Pereira, Dina; Lopes, Miguel M.; Faro, Rosário; Lopes, Sara M.; Verbeek, Dineke

Machado-Joseph disease (MJD) is a fatal neurodegenerative disorder clinically characterized by prominent ataxia. It is caused by an expansion of a CAG trinucleotide in ATXN3, translating into an expanded polyglutamine (polyQ) tract in the ATXN3 protein, that becomes prone to misfolding and aggregation. The pathogenesis of the disease has been associated with the dysfunction of several cellular mechanisms, inclu...

Date: 2022   |   Origin: Sapientia - Universidade do Algarve
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