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Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.
Mattioli F, Worpenberg L, Li CT, Ibrahim N, Naz S, Sharif S, Firouzabadi SG, Vosoogh S, Saraeva-Lamri R, Raymond L, Trujillo C, Guex N, Antonarakis SE, Ansar M, Darvish H, Liu RJ, Roignant JY, Reymond A. Mattioli F, et al. Among authors: roignant jy. Genet Med. 2023 Sep;25(9):100900. doi: 10.1016/j.gim.2023.100900. Epub 2023 May 21. Genet Med. 2023. PMID: 37226891 Free article.
Mechanistic insights into m6A RNA enzymes.
Lence T, Paolantoni C, Worpenberg L, Roignant JY. Lence T, et al. Among authors: roignant jy. Biochim Biophys Acta Gene Regul Mech. 2019 Mar;1862(3):222-229. doi: 10.1016/j.bbagrm.2018.10.014. Epub 2018 Nov 3. Biochim Biophys Acta Gene Regul Mech. 2019. PMID: 30395944 Review.
Zc3h13/Flacc is required for adenosine methylation by bridging the mRNA-binding factor Rbm15/Spenito to the m6A machinery component Wtap/Fl(2)d.
Knuckles P, Lence T, Haussmann IU, Jacob D, Kreim N, Carl SH, Masiello I, Hares T, Villaseñor R, Hess D, Andrade-Navarro MA, Biggiogera M, Helm M, Soller M, Bühler M, Roignant JY. Knuckles P, et al. Among authors: roignant jy. Genes Dev. 2018 Mar 1;32(5-6):415-429. doi: 10.1101/gad.309146.117. Epub 2018 Mar 13. Genes Dev. 2018. PMID: 29535189 Free PMC article.
Exploring the brain epitranscriptome: perspectives from the NSAS summit.
Lee SM, Koo B, Carré C, Fischer A, He C, Kumar A, Liu K, Meyer KD, Ming GL, Peng J, Roignant JY, Storkebaum E, Sun S, De Pietri Tonelli D, Wang Y, Weng YL, Pulvirenti L, Shi Y, Yoon KJ, Song H. Lee SM, et al. Among authors: roignant jy. Front Neurosci. 2023 Oct 20;17:1291446. doi: 10.3389/fnins.2023.1291446. eCollection 2023. Front Neurosci. 2023. PMID: 37928731 Free PMC article.
Hakai is required for stabilization of core components of the m6A mRNA methylation machinery.
Bawankar P, Lence T, Paolantoni C, Haussmann IU, Kazlauskiene M, Jacob D, Heidelberger JB, Richter FM, Nallasivan MP, Morin V, Kreim N, Beli P, Helm M, Jinek M, Soller M, Roignant JY. Bawankar P, et al. Among authors: roignant jy. Nat Commun. 2021 Jun 18;12(1):3778. doi: 10.1038/s41467-021-23892-5. Nat Commun. 2021. PMID: 34145251 Free PMC article.
48 results