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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: martinez j. Nature. 2013 Mar 28;495(7442):474-80. doi: 10.1038/nature11923. Epub 2013 Mar 10. Nature. 2013. PMID: 23474986 Free PMC article.
hClp1: a novel kinase revitalizes RNA metabolism.
Weitzer S, Martinez J. Weitzer S, et al. Among authors: martinez j. Cell Cycle. 2007 Sep 1;6(17):2133-7. doi: 10.4161/cc.6.17.4642. Epub 2007 Jun 27. Cell Cycle. 2007. PMID: 17786051
HSPC117 is the essential subunit of a human tRNA splicing ligase complex.
Popow J, Englert M, Weitzer S, Schleiffer A, Mierzwa B, Mechtler K, Trowitzsch S, Will CL, Lührmann R, Söll D, Martinez J. Popow J, et al. Among authors: martinez j. Science. 2011 Feb 11;331(6018):760-4. doi: 10.1126/science.1197847. Science. 2011. PMID: 21311021
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: martinez j. Cell. 2014 Apr 24;157(3):636-50. doi: 10.1016/j.cell.2014.02.058. Cell. 2014. PMID: 24766809 Free PMC article.
9,209 results