Ontology highlight
ABSTRACT:
SUBMITTER: Porreca RM
PROVIDER: S-EPMC5961080 | biostudies-literature | 2018 May
REPOSITORIES: biostudies-literature
Porreca Rosa M RM Glousker Galina G Awad Aya A Matilla Fernandez Maria I MI Gibaud Anne A Naucke Christian C Cohen Scott B SB Bryan Tracy M TM Tzfati Yehuda Y Draskovic Irena I Londoño-Vallejo Arturo A
Nucleic acids research 20180501 9
Telomere maintenance protects the cell against genome instability and senescence. Accelerated telomere attrition is a characteristic of premature aging syndromes including Dyskeratosis congenita (DC). Mutations in hRTEL1 are associated with a severe form of DC called Hoyeraal-Hreidarsson syndrome (HHS). HHS patients carry short telomeres and HHS cells display telomere damage. Here we investigated how hRTEL1 contributes to telomere maintenance in human primary as well as tumor cells. Transient de ...[more]