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CLP1 links tRNA metabolism to progressive motor-neuron loss.
Hanada T, Weitzer S, Mair B, Bernreuther C, Wainger BJ, Ichida J, Hanada R, Orthofer M, Cronin SJ, Komnenovic V, Minis A, Sato F, Mimata H, Yoshimura A, Tamir I, Rainer J, Kofler R, Yaron A, Eggan KC, Woolf CJ, Glatzel M, Herbst R, Martinez J, Penninger JM. Hanada T, et al. Among authors: bernreuther c. Nature. 2013 Mar 28;495(7442):474-80. doi: 10.1038/nature11923. Epub 2013 Mar 10. Nature. 2013. PMID: 23474986 Free PMC article.
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM, Erdin S, Isikay S, Franco LM, Gonzaga-Jauregui C, Gambin T, Gelowani V, Hunter JV, Yesil G, Koparir E, Yilmaz S, Brown M, Briskin D, Hafner M, Morozov P, Farazi TA, Bernreuther C, Glatzel M, Trattnig S, Friske J, Kronnerwetter C, Bainbridge MN, Gezdirici A, Seven M, Muzny DM, Boerwinkle E, Ozen M; Baylor Hopkins Center for Mendelian Genomics; Clausen T, Tuschl T, Yuksel A, Hess A, Gibbs RA, Martinez J, Penninger JM, Lupski JR. Karaca E, et al. Among authors: bernreuther c. Cell. 2014 Apr 24;157(3):636-50. doi: 10.1016/j.cell.2014.02.058. Cell. 2014. PMID: 24766809 Free PMC article.
Functional characterization of the lysosomal membrane protein TMEM192 in mice.
Nguyen TL, Schneppenheim J, Rudnik S, Lüllmann-Rauch R, Bernreuther C, Hermans-Borgmeyer I, Glatzel M, Saftig P, Schröder B. Nguyen TL, et al. Among authors: bernreuther c. Oncotarget. 2017 Jul 4;8(27):43635-43652. doi: 10.18632/oncotarget.17514. Oncotarget. 2017. PMID: 28504966 Free PMC article.
151 results