Article
Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder.
RNA (New York, N.Y.) - 1 Nov 2020
Ramos Jillian, Proven Melissa, Halvardson Jonatan, Hagelskamp Felix, Kuchinskaya Ekaterina, Phelan Benjamin, Bell Ryan, Kellner Stefanie M, Feuk Lars, Thuresson Ann-Charlotte, Fu Dragony
Abstract excerpt
The deamination of adenosine to inosine at the wobble position of tRNA is an essential post-transcriptional RNA modification required for wobble decoding in bacteria and eukaryotes. In humans, the wobble inosine modification is catalyzed by the heterodimeric ADAT2/3 complex. Here, we describe novel pathogenic ADAT3 variants impairing adenosine deaminase activity through a distinct mechanism that can be corrected...
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