Article
Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks.
Cell death & disease - 20 Mar 2014
Martin N T, Nakamura K, Paila U, Woo J, Brown C, Wright J A, Teraoka S N, Haghayegh S, McCurdy D, Schneider M, Hu H, Quinlan A R, Gatti R A, Concannon P
Abstract excerpt
The study of rare human syndromes characterized by radiosensitivity has been instrumental in identifying novel proteins and pathways involved in DNA damage responses to ionizing radiation. In the present study, a mutation in mitochondrial poly-A-polymerase (MTPAP), not previously recognized for its role in the DNA damage response, was identified by exome sequencing and subsequently associated with cellular...
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