Ontology highlight
ABSTRACT:
SUBMITTER: Sabatella M
PROVIDER: S-EPMC6182131 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Sabatella Mariangela M Theil Arjan F AF Ribeiro-Silva Cristina C Slyskova Jana J Thijssen Karen K Voskamp Chantal C Lans Hannes H Vermeulen Wim W
Nucleic acids research 20181001 18
The structure-specific ERCC1-XPF endonuclease plays a key role in DNA damage excision by nucleotide excision repair (NER) and interstrand crosslink repair. Mutations in this complex can either cause xeroderma pigmentosum (XP) or XP combined with Cockayne syndrome (XPCS-complex) or Fanconi anemia. However, most patients carry compound heterozygous mutations, which confounds the dissection of the phenotypic consequences for each of the identified XPF alleles. Here, we analyzed the functional impac ...[more]