id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_ya6arrpxzreudgbsxnjs6txoui	N T Martin	Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks	2014.0	9	.pdf	application/pdf	8758	672	55	poly-A-polymerase (MTPAP), not previously recognized for its role in the DNA damage response, was identified by exome Further analysis of the cellular phenotype revealed delayed DNA repair, increased levels of DNA double-strand breaks, increased reactive oxygen species (ROS), and increased cell death after irradiation (IR). increased DNA damage, reduced repair kinetics, increased cell death by apoptosis, and reduced clonogenic survival after Keywords: radiosensitivity; MTPAP; DNA repair; sequencing; reactive oxygen species; DNA damage homologous recombination; IR, irradiation (ionizing); INDEL, insertion-deletion; LCL, lymphoblastoid cell line; MRN, protein complex; MRE11, NBS1, RAD50; MTPAP/ mtPAP, mitochondrial poly-A-polymerase; NAC, n-acetyl cysteine; NBS1, Nijmegen breakage syndrome 1; NCA, neutral comet assay; NHEJ, non-homologous end Figure 4 RS63-3 and -7 LCLs had normal mitochondrial respiration but increased levels of ROS and apoptosis post-IR. Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks	./cache/work_ya6arrpxzreudgbsxnjs6txoui.pdf	./txt/work_ya6arrpxzreudgbsxnjs6txoui.txt