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Article

True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.

Human molecular genetics - 1 Jul 2003

Rapić-Otrin Vesna, Navazza Valentina, Nardo Tiziana, Botta Elena, McLenigan Mary, Bisi Dawn C, Levine Arthur S, Stefanini Miria

Abstract excerpt

Xeroderma pigmentosum (XP) is a skin cancer-prone autosomal recessive disease characterized by inability to repair UV-induced DNA damage. The major form of XP is defective in nucleotide excision repair (NER) and comprises seven complementation groups (A-G). The genes defective in all groups have been identified unambiguously with the exception of group E. The cells of some XP-E patients are deficient in a protein...

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Source

Identifiers

PMID: 12812979
DOI: 10.1093/hmg/ddg174

Genes

DDB2

Provenance

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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True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.PMID 12812979Read ↗

Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.Semantic proximity Read ↗

DDB Accumulates at DNA Damage Sites Immediately after UV Irradiation and Directly Stimulates Nucleotide Excision RepairSemantic proximity Read ↗

Abnormal regulation of DDB2 gene expression in xeroderma pigmentosum group E strains.Semantic proximity Read ↗

Sequential binding of UV DNA damage binding factor and degradation of the p48 subunit as early events after UV irradiation.Semantic proximity Read ↗

Human damage-specific DNA-binding protein p48. Characterization of XPE mutations and regulation following UV irradiation.Semantic proximity Read ↗

Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome.Semantic proximity Read ↗

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.Semantic proximity Read ↗

Every protagonist has a sidekick: Structural aspects of human xeroderma pigmentosum-binding proteins in nucleotide excision repair.Semantic proximity Read ↗

The naturally occurring mutants of DDB are impaired in stimulating nuclear import of the p125 subunit and E2F1-activated transcription.Semantic proximity Read ↗

Do we know the cause of xeroderma pigmentosum?Semantic proximity Read ↗

Xeroderma Pigmentosum C (XPC) Mutations in Primary Fibroblasts Impair Base Excision Repair Pathway and Increase Oxidative DNA DamageSemantic proximity Read ↗

Characterization of molecular defects in xeroderma pigmentosum group C.Semantic proximity Read ↗

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