Article

Formation of tRNA wobble inosine in humans is perturbed by a millennia-old mutation linked to intellectual disability

2018-03-07

Abstract excerpt

The formation of inosine at the wobble position of eukaryotic tRNAs is an essential modification catalyzed by the ADAT2/ADAT3 complex. In humans, a valine to methionine mutation (V144M) in ADAT3 that originated ∼1,600 years ago is the most common cause of autosomal-recessive intellectual disability (ID) in Arabia. Here, we show that ADAT3-V144M exhibits perturbations in subcellular localization and has increased p...

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Literature Corpus work: eb68e535-fd89-57e5-a05e-87266c97faba
DOI: 10.1101/277079

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