Article
Structural and functional consequences of a disease mutation in the telomere protein TPP1.
Proceedings of the National Academy of Sciences of the United States of America - 15 Nov 2016
Bisht Kamlesh, Smith Eric M, Tesmer Valerie M, Nandakumar Jayakrishnan
Abstract excerpt
Telomerase replicates chromosome ends to facilitate continued cell division. Mutations that compromise telomerase function result in stem cell failure diseases, such as dyskeratosis congenita (DC). One such mutation (K170Δ), residing in the telomerase-recruitment factor TPP1, provides an excellent opportunity to structurally, biochemically, and genetically dissect the mechanism of such diseases. We show through...
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