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Article

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal–Hreidarsson syndrome

17 May 2010

Abstract excerpt

Telomeres, the protein-DNA complexes at the ends of linear chromosomes, are protected and regulated by the shelterin molecules, the telomerase complex, and other accessory factors, among which is Apollo, a DNA repair factor of the beta-lactamase/beta-CASP family. Impaired telomere protection in humans causes dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome, characterized by premature aging, bone...

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Share to Advanced biosensing and bioanalysis techniques
Share to DNA Repair Mechanisms
Share to Telomeres, Telomerase, and Senescence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20479256
DOI: 10.1073/pnas.0914918107

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Related research

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Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal–Hreidarsson syndromePMID 20479256Read ↗

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Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.Semantic proximity Read ↗

Apollo, an Artemis-Related Nuclease, Interacts with TRF2 and Protects Human Telomeres in S PhaseSemantic proximity Read ↗

The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4Semantic proximity Read ↗

DCLRE1B/hSNM1B (Apollo) is not acutely required for human pluripotent stem cell survivalSemantic proximity Read ↗

Dyskeratosis congenita as a disorder of telomere maintenance.Semantic proximity Read ↗

RTEL1: functions of a disease-associated helicase.Semantic proximity Read ↗

Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome.Semantic proximity Read ↗

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