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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Mol Cell Biol
Autores principales: Ramos, Jillian, Han, Lu, Li, Yan, Hagelskamp, Felix, Kellner, Stefanie M., Alkuraya, Fowzan S., Phizicky, Eric M., Fu, Dragony
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Microbiology 2019
Materias:
Research Article
Acceso en línea: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
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares