We just published a detailed assessment of PURA and its related disorders. We review structural and evolutionary aspects, knowledge about it cell biological role, the defects occurring in mice with impaired PURA genes, as well as human neuronal disorders either caused by mutations in the PURA gene (PURA Syndrome) or modulated by the protein (FXTAS and ALS/FTLD).
Molitor M.*, Bacher S.*, Burczyk S.*, Niessing D.
The molecular function of PURA and its implications in neurological diseases.
Frontiers in Genetics (2021) https://doi.org/10.3389/fgene.2021.638217