Article
Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation.
Cell cycle (Georgetown, Tex.) - 1 Apr 2005
Cerone Maria Antonietta, Ward Ryan J, Londoño-Vallejo J Arturo, Autexier Chantal
Abstract excerpt
Dyskeratosis congenita (DC) is a rare multi-system syndrome characterized by nail dystrophy, abnormal skin pigmentation and mucosal leukoplakia. The gene mutated in the X-linked form of human DC encodes for dyskerin, a nucleolar pseudourydilase that is involved in rRNA maturation. Dyskerin is also involved in telomerase function through its interaction with the telomerase RNA (hTR). Mutations in dyskerin result...
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