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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Hochberg I, Demain LAM, Richer J, Thompson K, Urquhart JE, Rea A, Pagarkar W, Rodríguez-Palmero A, Schlüter A, Verdura E, Pujol A, Quijada-Fraile P, Amberger A, Deutschmann AJ, Demetz S, Gillespie M, Belyantseva IA, McMillan HJ, Barzik M, Beaman GM, Motha R, Ng KY, O'Sullivan J, Williams SG, Bhaskar SS, Lawrence IR, Jenkinson EM, Zambonin JL, Blumenfeld Z, Yalonetsky S, Oerum S, Rossmanith W; Genomics England Research Consortium; Yue WW, Zschocke J, Munro KJ, Battersby BJ, Friedman TB, Taylor RW, O'Keefe RT, Newman WG. Hochberg I, et al. Among authors: rossmanith w. Am J Hum Genet. 2021 Nov 4;108(11):2195-2204. doi: 10.1016/j.ajhg.2021.10.002. Epub 2021 Oct 28. Am J Hum Genet. 2021. PMID: 34715011 Free PMC article.
Of P and Z: mitochondrial tRNA processing enzymes.
Rossmanith W. Rossmanith W. Biochim Biophys Acta. 2012 Sep-Oct;1819(9-10):1017-26. doi: 10.1016/j.bbagrm.2011.11.003. Epub 2011 Nov 23. Biochim Biophys Acta. 2012. PMID: 22137969 Free PMC article. Review.
Mitochondrial poly(A) polymerase is involved in tRNA repair.
Fiedler M, Rossmanith W, Wahle E, Rammelt C. Fiedler M, et al. Among authors: rossmanith w. Nucleic Acids Res. 2015 Nov 16;43(20):9937-49. doi: 10.1093/nar/gkv891. Epub 2015 Sep 9. Nucleic Acids Res. 2015. PMID: 26354863 Free PMC article.
Human mitochondrial tRNA processing.
Rossmanith W, Tullo A, Potuschak T, Karwan R, Sbisà E. Rossmanith W, et al. J Biol Chem. 1995 May 26;270(21):12885-91. doi: 10.1074/jbc.270.21.12885. J Biol Chem. 1995. PMID: 7759547 Free article.
171 results