Article
Identification of a splicing variant that regulates type 2 diabetes risk factor CDKAL1 level by a coding-independent mechanism in human.
Human molecular genetics - 1 Sept 2014
Zhou Bo, Wei Fan-Yan, Kanai Narumi, Fujimura Atsushi, Kaitsuka Taku, Tomizawa Kazuhito
Abstract excerpt
Single-nucleotide polymorphisms (SNPs) in CDKAL1 have been associated with the development of type 2 diabetes (T2D). CDKAL1 catalyzes 2-methylthio modification of adenosine at position 37 of tRNA(Lys)(UUU). A deficit of this modification causes aberrant protein synthesis, and is associated with i...
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