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Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification

The wobble hypothesis was proposed to explain the presence of fewer tRNAs than possible codons. The wobble nucleoside position in the anticodon stem-loop undergoes a number of modifications that help maintain the efficiency and fidelity of translation. AlkB homolog 8 (ALKBH8) is an atypical member o...

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Dettagli Bibliografici
Pubblicato in:Am J Hum Genet
Autori principali: Monies, Dorota, Vågbø, Cathrine Broberg, Al-Owain, Mohammad, Alhomaidi, Suzan, Alkuraya, Fowzan S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6556876/
https://ncbi.nlm.nih.gov/pubmed/31079898
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.03.026
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