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A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis
TLDR
It is concluded that unrepaired cytotoxic DNA damage induces a highly conserved metabolic response mediated by the IGF1/insulin pathway, which re-allocates resources from growth to somatic preservation and life extension, and demonstrates that ageing and end-of-life fitness are determined both by stochastic damage and genetics. Expand
DNA-binding polarity of human replication protein A positions nucleases in nucleotide excision repair.
TLDR
HRPA binds ssDNA with a defined polarity; a strong ssDNA interaction domain of hRPA is positioned at the 5' side of its binding region, a weak ssDNA-binding domain resides at the 3' side. Expand
DNA Structural Elements Required for ERCC1-XPF Endonuclease Activity*
TLDR
Recombinant ERCC1-XPF, purified from insect cells, was found to cleave stem-loop substrates at the DNA junction in the absence of other proteins like replication protein A, showing that the structure-specific endonuclease activity is intrinsic to the complex. Expand
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
TLDR
The first involvement of the XPD gene in a new case of UV-sensitive COFS syndrome is reported, with heterozygous substitutions-a R616W null mutation and a unique D681N mutation-demonstrating that a third gene can be involved inCOFS syndrome, which is proposed to be included within the already known spectrum of NER disorders: XP, CS, and trichothiodystrophy. Expand
Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder
TLDR
The repair-deficient form of trichothiodystrophy (TTD) most often results from mutations in the genes XPB or XPD, encoding helicases of the transcription/repair factor TFIIH, which mainly affects its repair function and hardly influences transcription. Expand
Rad21-Cohesin Haploinsufficiency Impedes DNA Repair and Enhances Gastrointestinal Radiosensitivity in Mice
TLDR
The data indicate that Rad21 gene dosage is critical for the ionising radiation (IR) response, and Rad21 mutant mice represent a new mammalian model for understanding the molecular basis of irradiation effects on normal tissues and have important implications in the understanding of acute radiation toxicity in normal tissues. Expand
Evidence for a repair enzyme complex involving ERCC1 and complementing activities of ERCC4, ERCC11 and xeroderma pigmentosum group F.
TLDR
Complementation analysis in vitro of rodent CGs is accomplished by pairwise mixing of mutant extracts, and results show that mutants from groups 2, 3, 5 and XP‐A can complement all other CGs tested, however, selective non‐complementation in vitro was observed in mutual mixtures of groups 1, 4, 11 andXP‐F, suggesting that the complementing activities involved somehow affect each other. Expand
Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH).
TLDR
The role of ERCC3 and probably the entire BTF2 complex in transcription in vivo which was hitherto only demonstrated in vitro is established and strongly suggests that transcription itself is a critical component for maintenance of chromatin structure. Expand
A temperature-sensitive disorder in basal transcription and DNA repair in humans
TLDR
The findings reveal the clinical consequences of impaired basal transcription and mutations in very fundamental processes in humans, which previously were only known in lower organisms. Expand
Partial characterization of the DNA repair protein complex, containing the ERCC1, ERCC4, ERCC11 and XPF correcting activities.
TLDR
The partial purification and characterization of the ERCC1 complex is reported, finding the entire complex is considerably larger than previously found using size separation on glycerol gradients and has affinity for DNA, but no clear preference for ss, ds or UV-damaged DNA substrates. Expand
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