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Article

Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.

Nucleic acids research - 12 Oct 2018

Sabatella Mariangela, Theil Arjan F, Ribeiro-Silva Cristina, Slyskova Jana, Thijssen Karen, Voskamp Chantal, Lans Hannes, Vermeulen Wim

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 30165384
DOI: 10.1093/nar/gky774
PMCID: PMC6182131

Genes

ERCC1

Provenance

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Related research

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Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.PMID 30165384Read ↗

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.Semantic proximity Read ↗

Function and Interactions of ERCC1-XPF in DNA Damage ResponseSemantic proximity Read ↗

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Human XPG nuclease structure, assembly, and activities with insights for neurodegeneration and cancer from pathogenic mutations.Semantic proximity Read ↗

A disease-associated XPA allele interferes with TFIIH binding and primarily affects transcription-coupled nucleotide excision repair.Semantic proximity Read ↗

Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.Semantic proximity Read ↗

Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.Semantic proximity Read ↗

Multiple DNA binding domains mediate the function of the ERCC1-XPF protein in nucleotide excision repair.Semantic proximity Read ↗

Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.Semantic proximity Read ↗

First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.Semantic proximity Read ↗

A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.Semantic proximity Read ↗

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