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Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B. Bernard G, et al. Among authors: teichmann m. Am J Hum Genet. 2011 Sep 9;89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014. Am J Hum Genet. 2011. PMID: 21855841 Free PMC article.
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.
Choquet K, Yang S, Moir RD, Forget D, Larivière R, Bouchard A, Poitras C, Sgarioto N, Dicaire MJ, Noohi F, Kennedy TE, Rochford J, Bernard G, Teichmann M, Coulombe B, Willis IM, Kleinman CL, Brais B. Choquet K, et al. Among authors: teichmann m. Mol Brain. 2017 Apr 13;10(1):13. doi: 10.1186/s13041-017-0294-y. Mol Brain. 2017. PMID: 28407788 Free PMC article.
RNA Polymerase III Subunit Mutations in Genetic Diseases.
Lata E, Choquet K, Sagliocco F, Brais B, Bernard G, Teichmann M. Lata E, et al. Among authors: teichmann m. Front Mol Biosci. 2021 Jul 30;8:696438. doi: 10.3389/fmolb.2021.696438. eCollection 2021. Front Mol Biosci. 2021. PMID: 34395528 Free PMC article. Review.
Structural analysis of human RPC32β-RPC62 complex.
Boissier F, Dumay-Odelot H, Teichmann M, Fribourg S. Boissier F, et al. Among authors: teichmann m. J Struct Biol. 2015 Dec;192(3):313-319. doi: 10.1016/j.jsb.2015.09.004. Epub 2015 Sep 21. J Struct Biol. 2015. PMID: 26394183
The hRPC62 subunit of human RNA polymerase III displays helicase activity.
Ayoubi LE, Dumay-Odelot H, Chernev A, Boissier F, Minvielle-Sébastia L, Urlaub H, Fribourg S, Teichmann M. Ayoubi LE, et al. Among authors: teichmann m. Nucleic Acids Res. 2019 Nov 4;47(19):10313-10326. doi: 10.1093/nar/gkz788. Nucleic Acids Res. 2019. PMID: 31529052 Free PMC article.
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.
Dorboz I, Dumay-Odelot H, Boussaid K, Bouyacoub Y, Barreau P, Samaan S, Jmel H, Eymard-Pierre E, Cances C, Bar C, Poulat AL, Rousselle C, Renaldo F, Elmaleh-Bergès M, Teichmann M, Boespflug-Tanguy O. Dorboz I, et al. Among authors: teichmann m. Neurol Genet. 2018 Dec 3;4(6):e289. doi: 10.1212/NXG.0000000000000289. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30584594 Free PMC article.
159 results