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A Loss‐of‐Function Variant in the Human Histidyl‐t RNA Synthetase ( HARS ) Gene is Neurotoxic In Vivo
(Wiley Periodicals, Inc.Cold Spring Harbor Laboratory Press, 2013-01)
Aminoacyl‐t RNA synthetases ( ARS s) are ubiquitously expressed enzymes responsible for ligating amino acids to cognate t RNA molecules. Mutations in four genes encoding an ARS have been implicated in inherited peripheral ...
REV1 and DNA polymerase zeta in DNA interstrand crosslink repair
(Wiley Subscription Services, Inc., A Wiley Company, 2012-12)
DNA interstrand crosslinks (ICLs) are covalent linkages between two strands of DNA, and their presence interferes with essential metabolic processes such as transcription and replication. These lesions are extremely toxic, ...