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Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder

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...

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Detalles Bibliográficos
Autores principales: Ramos, Jillian, Proven, Melissa, Halvardson, Jonatan, Hagelskamp, Felix, Kuchinskaya, Ekaterina, Phelan, Benjamin, Bell, Ryan, Kellner, Stefanie M., Feuk, Lars, Thuresson, Ann-Charlotte, Fu, Dragony
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7566568/
https://www.ncbi.nlm.nih.gov/pubmed/32763916
http://dx.doi.org/10.1261/rna.076380.120