The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders. | The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders. Yılmaz M, Kamaşak T, Teralı K, Çebi AH, Türkyılmaz A. | 04/18/2024 |
HITS-CLIP analysis of human ALKBH8 reveals interactions with fully processed substrate tRNAs and with specific noncoding RNAs. | HITS-CLIP analysis of human ALKBH8 reveals interactions with fully processed substrate tRNAs and with specific noncoding RNAs. Cavallin I, Bartosovic M, Skalicky T, Rengaraj P, Demko M, Schmidt-Dengler MC, Drino A, Helm M, Vanacova S., Free PMC Article | 12/3/2022 |
Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant. | Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant. Maddirevula S, Alameer S, Ewida N, de Sousa MML, Bjørås M, Vågbø CB, Alkuraya FS. | 02/5/2022 |
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. | Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. Saad AK, Marafi D, Mitani T, Du H, Rafat K, Fatih JM, Jhangiani SN, Coban-Akdemir Z, Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Pehlivan D, Hunter JV, Posey JE, Zaki MS, Lupski JR., Free PMC Article | 08/7/2021 |
Loss of epitranscriptomic control of selenocysteine utilization engages senescence and mitochondrial reprogramming(). | Loss of epitranscriptomic control of selenocysteine utilization engages senescence and mitochondrial reprogramming(☆). Lee MY, Leonardi A, Begley TJ, Melendez JA., Free PMC Article | 10/3/2020 |
Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification. | Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification. Monies D, Vågbø CB, Al-Owain M, Alhomaidi S, Alkuraya FS., Free PMC Article | 03/14/2020 |
findings suggest that the high expression of ALKBH8 is critical for the growth and progression of bladder cancer | ALKBH8 promotes bladder cancer growth and progression through regulating the expression of survivin. Ohshio I, Kawakami R, Tsukada Y, Nakajima K, Kitae K, Shimanoe T, Saigo Y, Hase H, Ueda Y, Jingushi K, Tsujikawa K. | 06/3/2017 |
Many eukaryotic tRNAs contain the wobble modification 5-methoxycarbonylmethyl-uridine (mcm5U). It is demonstrated that (R)- and (S)-5-methoxycarbonylhydroxymethyluridine (mchm5U), hydroxylated forms of mcm(5)U, are present in mammalian tRNA-Arg(UCG), and tRNA-Gly(UCC), respectively. It is shown that the hydroxylation reaction leading to the formation of (S)-mchm5U is catalyzed by the oxygenase (AlkB) domain of ALKBH8. | ALKBH8-mediated formation of a novel diastereomeric pair of wobble nucleosides in mammalian tRNA. van den Born E, Vågbø CB, Songe-Møller L, Leihne V, Lien GF, Leszczynska G, Malkiewicz A, Krokan HE, Kirpekar F, Klungland A, Falnes PØ. | 09/6/2013 |
The methyltransferase domain of ALKBH8 is demonstrated to be a functional homologue of the Saccharomyces cerevisiae Trm9 protein, mediating the last step in the formation of the wobble uridine modification 5-methoxycarbonylmethyl-uridine in tRNA. This modification is shown to be important for efficient selenoprotein synthesis. ALKBH8 knock-out mice are generated and described. | Mammalian ALKBH8 possesses tRNA methyltransferase activity required for the biogenesis of multiple wobble uridine modifications implicated in translational decoding. Songe-Møller L, van den Born E, Leihne V, Vågbø CB, Kristoffersen T, Krokan HE, Kirpekar F, Falnes PØ, Klungland A., Free PMC Article | 09/6/2013 |
Data show that human AlkB homolog 8 (ABH8) catalyzes tRNA methylation to generate 5-methylcarboxymethyl uridine (mcm(5)U) at the wobble position of certain tRNAs, a critical anticodon loop modification linked to DNA damage survival. | Human AlkB homolog ABH8 Is a tRNA methyltransferase required for wobble uridine modification and DNA damage survival. Fu D, Brophy JA, Chan CT, Atmore KA, Begley U, Paules RS, Dedon PC, Begley TJ, Samson LD., Free PMC Article | 06/14/2010 |
Findings indicate a role for ALKBH8 in urothelial carcinoma cell survival mediated by NOX-1-dependent ROS signals, further suggesting therapeutic strategies in human bladder cancer by inducing JNK/p38/gammaH2AX-mediated cell death by silencing of ALKBH8. | A novel human AlkB homologue, ALKBH8, contributes to human bladder cancer progression. Shimada K, Nakamura M, Anai S, De Velasco M, Tanaka M, Tsujikawa K, Ouji Y, Konishi N. | 01/21/2010 |