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TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Van Haute L, O'Connor E, Díaz-Maldonado H, Munro B, Polavarapu K, Hock DH, Arunachal G, Athanasiou-Fragkouli A, Bardhan M, Barth M, Bonneau D, Brunetti-Pierri N, Cappuccio G, Caruana NJ, Dominik N, Goel H, Helman G, Houlden H, Lenaers G, Mention K, Murphy D, Nandeesh B, Olimpio C, Powell CA, Preethish-Kumar V, Procaccio V, Rius R, Rebelo-Guiomar P, Simons C, Vengalil S, Zaki MS, Ziegler A, Thorburn DR, Stroud DA, Maroofian R, Christodoulou J, Gustafsson C, Nalini A, Lochmüller H, Minczuk M, Horvath R. Van Haute L, et al. Nat Commun. 2023 Feb 23;14(1):1009. doi: 10.1038/s41467-023-36277-7. Nat Commun. 2023. PMID: 36823193 Free PMC article.
The mammalian mitochondrial epitranscriptome.
Rebelo-Guiomar P, Powell CA, Van Haute L, Minczuk M. Rebelo-Guiomar P, et al. Among authors: van haute l. Biochim Biophys Acta Gene Regul Mech. 2019 Mar;1862(3):429-446. doi: 10.1016/j.bbagrm.2018.11.005. Epub 2018 Dec 4. Biochim Biophys Acta Gene Regul Mech. 2019. PMID: 30529456 Free PMC article. Review.
Mitochondrial transcript maturation and its disorders.
Van Haute L, Pearce SF, Powell CA, D'Souza AR, Nicholls TJ, Minczuk M. Van Haute L, et al. J Inherit Metab Dis. 2015 Jul;38(4):655-80. doi: 10.1007/s10545-015-9859-z. Epub 2015 May 28. J Inherit Metab Dis. 2015. PMID: 26016801 Free PMC article. Review.
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3.
Van Haute L, Dietmann S, Kremer L, Hussain S, Pearce SF, Powell CA, Rorbach J, Lantaff R, Blanco S, Sauer S, Kotzaeridou U, Hoffmann GF, Memari Y, Kolb-Kokocinski A, Durbin R, Mayr JA, Frye M, Prokisch H, Minczuk M. Van Haute L, et al. Nat Commun. 2016 Jun 30;7:12039. doi: 10.1038/ncomms12039. Nat Commun. 2016. PMID: 27356879 Free PMC article.
Regulation of Mammalian Mitochondrial Gene Expression: Recent Advances.
Pearce SF, Rebelo-Guiomar P, D'Souza AR, Powell CA, Van Haute L, Minczuk M. Pearce SF, et al. Among authors: van haute l. Trends Biochem Sci. 2017 Aug;42(8):625-639. doi: 10.1016/j.tibs.2017.02.003. Epub 2017 Mar 9. Trends Biochem Sci. 2017. PMID: 28285835 Free PMC article. Review.
Maturation of selected human mitochondrial tRNAs requires deadenylation.
Pearce SF, Rorbach J, Van Haute L, D'Souza AR, Rebelo-Guiomar P, Powell CA, Brierley I, Firth AE, Minczuk M. Pearce SF, et al. Among authors: van haute l. Elife. 2017 Jul 26;6:e27596. doi: 10.7554/eLife.27596. Elife. 2017. PMID: 28745585 Free PMC article.
Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo.
Gammage PA, Viscomi C, Simard ML, Costa ASH, Gaude E, Powell CA, Van Haute L, McCann BJ, Rebelo-Guiomar P, Cerutti R, Zhang L, Rebar EJ, Zeviani M, Frezza C, Stewart JB, Minczuk M. Gammage PA, et al. Among authors: van haute l. Nat Med. 2018 Nov;24(11):1691-1695. doi: 10.1038/s41591-018-0165-9. Epub 2018 Sep 24. Nat Med. 2018. PMID: 30250142 Free PMC article.
28 results