Mitigation of polyglutamine-induced toxicity through depletion of Trmt2a in an MJD/SCA3 mouse model
Tiago Gomes, David V.C. Brito, Ricardo Afonso-Reis, José Miguel Codêsso, Aaron Voigt, Clévio Nóbrega · FENS Forum 2024
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is a polyglutamine disorder caused by an abnormal trinucleotide (CAG) expansion in the ATXN3 gene, leading to neurodegeneration. This translates into severe impairments across the patient’s body functions, and there are no therapies to halt or slow disease progression. Thus, there is an urgent need to identify novel molecular targets to develop disease-modifying therapies. Previously, it was shown that the loss of the tRNA methyltransferase 2 homolog A (TRMT2A) reduced polyglutamine toxicity and aggregation in SC
ePoster · Neuroscience