Article
A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition.
Aging - 1 Nov 2015
Stockklausner Clemens, Raffel Simon, Klermund Julia, Bandapalli Obul Reddy, Beier Fabian, Brümmendorf Tim H, Bürger Friederike, Sauer Sven W, Hoffmann Georg F, Lorenz Holger, Tagliaferri Laura, Nowak Daniel, Hofmann Wolf-Karsten, Buergermeister Rebecca, Kerber Carolin, Rausch Tobias, Korbel Jan O, Luke Brian, Trumpp Andreas, Kulozik Andreas E
Abstract excerpt
The TERT gene encodes for the reverse transcriptase activity of the telomerase complex and mutations in TERT can lead to dysfunctional telomerase activity resulting in diseases such as dyskeratosis congenita (DKC). Here, we describe a novel TERT mutation at position T1129P leading to DKC with progressive bone marrow (BM) failure in homozygous members of a consanguineous family. BM hematopoietic stem cells (HSCs)...
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