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- W2113459123 abstract "It has been known for some time that individuals with the X-linked human disease, dyskeratosis congenita (DKC) carry mutations in the gene encoding dyskerin. It has been proposed that DKC may be a ribosomal RNA (rRNA) disorder as dyskerin is similar to a yeast protein that is involved in the production of rRNA In a Perspective, Shay and Wright discuss new findings showing that dyskerin interacts with telomerase (the enzyme needed to maintain the ends of chromosomes) and stabilizes the RNA component of this enzyme. It turns out that DKC is a telomere maintenance disorder, which explains the age-related features of the disease (telomeres shorten during the normal aging process)." @default.
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- W2113459123 date "1999-12-17" @default.
- W2113459123 modified "2023-09-22" @default.
- W2113459123 title "Mutant Dyskerin Ends Relationship with Telomerase" @default.
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- W2113459123 doi "https://doi.org/10.1126/science.286.5448.2284" @default.
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