Genetic & Genomic MedicinemedRxivPreprint
PCNA thermosensitivity underlies an Ataxia Telangiectasia-like disorder
Joe Magrino, Veridiana Munford, Davi Jardim Martins…·Brian A. Kelch
The paper identifies a second PCNA mutation, C148S, causing PARD, showing both variants have thermo-stability defects leading to reduced chromatin-bound PCNA and temperature-dependent phenotypes.
DOI 10.1101/2022.10.20.22281069