Protein Kinase C gamma Mutations Drive Spinocerebellar Ataxia Type 14 by Impairing Autoinhibition
C. A. Pilo, T. R. Baffi, A. P. Kornev, M. T. Kunkel, M. Malfavon, D.-H. Chen, L.-C. Huang, C. Longman, N. A. Kannan, W. H. Raskind, D. J. Gonzalez, S. S. Taylor, G. Gorrie, A. C. Newton
SCA14 driver mutations in PKCγ impair autoinhibition, with defect correlating inversely with age of disease onset.
bioRxiv · Jun 24, 2021 · PreprintBiochemistry