Article
Chemical inhibition of PAPD5/7 rescues telomerase function and hematopoiesis in dyskeratosis congenita.
Blood advances - 23 Jun 2020
Shukla Siddharth, Jeong Ho-Chang, Sturgeon Christopher M, Parker Roy, Batista Luis Francisco Zirnberger
Abstract excerpt
Dyskeratosis congenita (DC) is a pediatric bone marrow failure syndrome caused by germline mutations in telomere biology genes. Mutations in DKC1 (the most commonly mutated gene in DC), the 3' region of TERC, and poly(A)-specific ribonuclease (PARN) cause reduced levels of the telomerase RNA component (TERC) by reducing its stability and accelerating TERC degradation. We have previously shown that depleting...
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