Ontology highlight
ABSTRACT:
SUBMITTER: Hoch NC
PROVIDER: S-EPMC5218588 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Nature 20161221 7635
XRCC1 is a molecular scaffold protein that assembles multi-protein complexes involved in DNA single-strand break repair. Here we show that biallelic mutations in the human XRCC1 gene are associated with ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia. Cells from a patient with mutations in XRCC1 exhibited not only reduced rates of single-strand break repair but also elevated levels of protein ADP-ribosylation. This latter phenotype is recapitulated in a related syndrom ...[more]