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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2020
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Materias: | |
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 |
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