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Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress.
Conde CD, Petronczki ÖY, Baris S, Willmann KL, Girardi E, Salzer E, Weitzer S, Ardy RC, Krolo A, Ijspeert H, Kiykim A, Karakoc-Aydiner E, Förster-Waldl E, Kager L, Pickl WF, Superti-Furga G, Martínez J, Loizou JI, Ozen A, van der Burg M, Boztug K. Conde CD, et al. Among authors: martinez j. J Clin Invest. 2019 Oct 1;129(10):4194-4206. doi: 10.1172/JCI128903. J Clin Invest. 2019. PMID: 31449058 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
Molecular architecture of the human tRNA ligase complex.
Kroupova A, Ackle F, Asanović I, Weitzer S, Boneberg FM, Faini M, Leitner A, Chui A, Aebersold R, Martinez J, Jinek M. Kroupova A, et al. Among authors: martinez j. Elife. 2021 Dec 2;10:e71656. doi: 10.7554/eLife.71656. Elife. 2021. PMID: 34854379 Free PMC article.
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.
9,213 results