Browsing NTNU Open by Author "Alkuraya, Fowzan S."
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Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant
Maddirevula, Sateesh; Alameer, Seham; Ewida, Nour; Sousa, Mirta; Bjørås, Magnar; Vågbø, Cathrine Broberg; Alkuraya, Fowzan S. (Peer reviewed; Journal article, 2021)ALKBH8 is a methyltransferase that modifies tRNAs by methylating the anticodon wobble uridine residue. The syndrome of ALKBH8-related intellectual developmental disability (MRT71) has thus far been reported solely in the ... -
Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification
Vågbø, Cathrine Broberg; Monies, Dorota; Al-Owain, Mohammad; Alhomaidi, Suzan; Alkuraya, Fowzan S. (Journal article; Peer reviewed, 2019)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 ...