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Article

ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients.

The Journal of experimental medicine - 1 Mar 2021

Apelt Katja, White Susan M, Kim Hyun Suk, Yeo Jung-Eun, Kragten Angela, Wondergem Annelotte P, Rooimans Martin A, González-Prieto Román, Wiegant Wouter W, Lunke Sebastian, Flanagan Daniel, Pantaleo Sarah, Quinlan Catherine, Hardikar Winita, van Attikum Haico, Vertegaal Alfred C O, Wilson Brian T, Wolthuis Rob M F, Schärer Orlando D, Luijsterburg Martijn S

Abstract excerpt

ERCC1-XPF is a multifunctional endonuclease involved in nucleotide excision repair (NER), interstrand cross-link (ICL) repair, and DNA double-strand break (DSB) repair. Only two patients with bi-allelic ERCC1 mutations have been reported, both of whom had features of Cockayne syndrome and died in infancy. Here, we describe two siblings with bi-allelic ERCC1 mutations in their teenage years. Genomic sequencing...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 33315086
DOI: 10.1084/jem.20200622
PMCID: PMC7927433

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients.PMID 33315086Read ↗

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