TAF1 splicing variants and prolyl hydroxylase inhibitors therapy in a mouse model of Huntington’s disease
Claudia Rodríguez-López, Ivó H Hernández, Marcos Casado Barbero, Jose J Lucas · FENS Forum 2024
Huntington’s disease (HD) and X linked dystonia parkinsonism are basal ganglia diseases, which have in common a decrease in TAF1 expression. Transgenic HD mouse model (R6/1) show diminished TAF1 levels together with an imbalance in usage of an alternative 3’ splicing site of TAF 1, which leads to an increase of isoforms with the long version of exon 5 (TAF1-e5L), which carry a putative prolyl hydroxylase (PHD) dependent degradation motif. This alteration is corrected by SREK1 overexpression, and leads to behavioral and neuropathological recovery of R6/1 mice. We aim to analyze TAF1 splicing va
ePoster · Neuroscience