A frameshift mutation in the murine Prkra gene causes dystonia and exhibits abnormal cerebellar development and reduced eIF2α phosphorylation.
Samuel B. Burnett, Allison M. Culver, Tricia A. Simon, Taylor Rowson, Kenneth Frederick, Kristina J. Palmer, Stephen A. Murray, Shannon William Davis, Rekha C. Patel
This study investigates the effects of a Prkra frameshift mutation in mice, showing reduced eIF2 phosphorylation and cerebellar abnormalities linked to dystonia.
bioRxiv · Jun 4, 2024 · PreprintMolecular Biology