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Mutant huntingtin impairs PNKP and ATXN3, disrupting DNA repair and transcription.
Gao R, Chakraborty A, Geater C, Pradhan S, Gordon KL, Snowden J, Yuan S, Dickey AS, Choudhary S, Ashizawa T, Ellerby LM, La Spada AR, Thompson LM, Hazra TK, Sarkar PS. Gao R, et al. Among authors: choudhary s. Elife. 2019 Apr 17;8:e42988. doi: 10.7554/eLife.42988. Elife. 2019. PMID: 30994454 Free PMC article.
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. Among authors: choudhary s. 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.
1,592 results