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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.
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.
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
Regulation of RNA polymerase III transcription during transformation of human IMR90 fibroblasts with defined genetic elements.
Durrieu-Gaillard S, Dumay-Odelot H, Boldina G, Tourasse NJ, Allard D, André F, Macari F, Choquet A, Lagarde P, Drutel G, Leste-Lasserre T, Petitet M, Lesluyes T, Lartigue-Faustin L, Dupuy JW, Chibon F, Roeder RG, Joubert D, Vagner S, Teichmann M. Durrieu-Gaillard S, et al. Among authors: teichmann m. Cell Cycle. 2018;17(5):605-615. doi: 10.1080/15384101.2017.1405881. Epub 2018 Jan 22. Cell Cycle. 2018. PMID: 29171785 Free PMC article.
163 results