A telomerase component is defective in the human disease dyskeratosis congenita
Article Abstract:
Dyskerin was expressed with an HA-epitope tag or human telomerase reverse transcriptase component (hTERT) with a Flag-epitope tag through transient transfection of telomerase-positive human 293 cells, to determine if dyskerin is component of conventional H/ACA small nucleolar ribonucleoproteins and the human telomerase ribonucleoprotein. Dyskeratosis congenita (DKC) pathology is consistent with compromised telomerase function resulting in a defect in telomere maintenance.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1999
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Stepwise protein-mediated RNA folding directs assembly of telomerase ribonucleoprotein
Article Abstract:
The ciliate Tetrahymena thermophila as a model system was used to explore the mechanism for telomerase which is an essential cellular ribonucleoprotein (RNP) biogenesis. The experimental results show a hierarchical assembly mechanism for telomerase RNP in which the protein subunits mould a specific RNA tertiary structure in a stepwise fashion.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 2007
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The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
Article Abstract:
Telomerase is a key factor in the functioning of bone marrow, and research has found that bone marrow failure is linked to mutations affecting telomerase.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 2001
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