Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3.
Gao R, Liu Y, Silva-Fernandes A, Fang X, Paulucci-Holthauzen A, Chatterjee A, Zhang HL, Matsuura T, Choudhary S, Ashizawa T, Koeppen AH, Maciel P, Hazra TK, Sarkar PS.
Gao R, et al.
PLoS Genet. 2015 Jan 15;11(1):e1004834. doi: 10.1371/journal.pgen.1004834. eCollection 2015 Jan.
PLoS Genet. 2015.
PMID: 25590633
Free PMC article.