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Article

RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway.

Human molecular genetics - 15 Oct 2004

Yin Jinhu, Kwon Yong Tae, Varshavsky Alexander, Wang Weidong

Abstract excerpt

The Rothmund-Thomson syndrome (growth retardation, skin and bone defects, predisposition to cancer) and the RAPADILINO syndrome are caused by mutations in the RECQL4 gene. The 133 kDa RECQL4 is a putative DNA helicase, a member of the family that includes the BLM and WRN helicases. The latter are...

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Source

Identifiers

PMID: 15317757
DOI: 10.1093/hmg/ddh269

Genes

RECQL4
UBR1
BLM
UBR2
WRN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15317757-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway.PMID 15317757Read ↗

RECQL4 is essential for the transport of p53 to mitochondria in normal human cells in the absence of exogenous stressSemantic proximity Read ↗

The versatile RECQL4.Semantic proximity Read ↗

The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stabilitySemantic proximity Read ↗

Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.Semantic proximity Read ↗

Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replicationSemantic proximity Read ↗

An overview of RecQ helicases and related diseases.Semantic proximity Read ↗

Hyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy.Semantic proximity Read ↗

p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization.Semantic proximity Read ↗

The involvement of human RECQL4 in DNA double‐strand break repairSemantic proximity Read ↗

Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.Semantic proximity Read ↗

Human RecQL4 as a Novel Molecular Target for Cancer Therapy.Semantic proximity Read ↗

Human RecQ Helicases in DNA Double-Strand Break RepairSemantic proximity Read ↗

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