Formation of tRNA Wobble Inosine in Humans Is Disrupted by a Millennia-Old Mutation Causing Intellectual Disability

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...

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Vydáno v:Mol Cell Biol
Hlavní autoři: Ramos, Jillian, Han, Lu, Li, Yan, Hagelskamp, Felix, Kellner, Stefanie M., Alkuraya, Fowzan S., Phizicky, Eric M., Fu, Dragony
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Microbiology 2019
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6751630/
https://ncbi.nlm.nih.gov/pubmed/31263000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1128/MCB.00203-19
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