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

3 Sept 2005

Abstract excerpt

Rothmund-Thomson syndrome (RTS) is a human genetic disorder characterized by genome instability, cancer susceptibility and premature aging. The gene defective in a subset of RTS cases, RECQL4, encodes a member of the RecQ family of DNA helicases. To better define the function of the RECQL4 protein, we have determined its subcellular localization. We have raised antibodies against the N- and C-terminal parts of...

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PMID: 16141230
DOI: 10.1242/jcs.02556

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The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stabilityPMID 16141230Read ↗

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

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

RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance.Semantic proximity Read ↗

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

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

RecQL4-Aurora B kinase axis is essential for cellular proliferation, cell cycle progression, and mitotic integritySemantic proximity Read ↗

Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice.Semantic proximity Read ↗

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

Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4.Semantic proximity Read ↗

Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.Semantic proximity Read ↗

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