Citations for
1HSD17B10, PRORP, TRMT10C
Structural basis of RNA processing by human mitochondrial RNase P.
Bhatta A, Dienemann C, Cramer P, Hillen HS.
Nat Struct Mol Biol. Sep;28(9):713-723. doi: 10.1038/s41594-021-00637-y. Epub 2021 Sep 6 2021
2DDDOB, PRORP
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.
Am J Hum Genet. Nov 4;108(11):2195-2204. doi: 10.1016/j.ajhg.2021.10.002. Epub 2021 Oct 28. 2021
3HSD17B10, PRORP, TRMT10C
Interplay between substrate recognition, 5' end tRNA processing and methylation activity of human mitochondrial RNase P
Karasik A, Fierke CA, Koutmos M.
RNA. Dec;25(12):1646-1660. doi: 10.1261/rna.069310.118. Epub 2019 Aug 27. 2019
4HSD17B10, MHBD, MRPP1D, PRORP, TRMT10C
Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein
Oerum S, Roovers M, Leichsenring M, Acquaviva-Bourdain C, Beermann F, Gemperle-Britschgi C, Fouilhoux A, Korwitz-Reichelt A, Bailey HJ, Droogmans L, Oppermann U, Sass JO, Yue WW.
Biochim Biophys Acta Mol Basis Dis. Dec;1863(12):3294-3302. doi: 10.1016/j.bbadis.2017.09.002. Epub 2017 Sep 7. 2017
5HSD17B10, MRPP1D, PRORP, TRMT10C
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.
Metodiev MD, Thompson K, Alston CL, Morris AA, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rötig A, Taylor RW.
Am J Hum Genet 98(5):993-1000. doi: 10.1016/j.ajhg.2016.03.010. Epub 2016 Apr 28. 2016
6PRORP
Mechanistic and Structural Studies of Protein-Only RNase P Compared to Ribonucleoproteins Reveal the Two Faces of the Same Enzymatic Activity
Schelcher C, Sauter C, Giegé P.
Biomolecules Jun 24;6(3):30. doi: 10.3390/biom6030030. 2016
7HSD17B10, PRORP, TRMT10C
Structure of the nuclease subunit of human mitochondrial RNase P.
Reinhard L, Sridhara S, Hällberg BM.
Nucleic Acids Res 43(11):5664-72. doi: 10.1093/nar/gkv481. Epub 2015 May 7. 2015
8PRORP
Auto-inhibitory Mechanism of the Human Mitochondrial RNase P Protein Complex.
Li F, Liu X, Zhou W, Yang X, Shen Y.
Sci Rep 5:9878. doi: 10.1038/srep09878. 2015
9HSD17B10, PRORP, TRMT10C
Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
Deutschmann AJ, Amberger A, Zavadil C, Steinbeisser H, Mayr JA, Feichtinger RG, Oerum S, Yue WW, Zschocke J.
Hum Mol Genet 23(13):3618-28. doi: 10.1093/hmg/ddu072. Epub 2014 Feb 18. 2014
10PRORP
Structural insights into protein-only RNase P complexed with tRNA.
Gobert A, Pinker F, Fuchsbauer O, Gutmann B, Boutin R, Roblin P, Sauter C, Giegé P.
Nat Commun. ;4:1353. doi: 10.1038/ncomms2358. 2013
11PRORP, PSMA6
Haplotypes encompassing the KIAA0391 and PSMA6 gene cluster confer a genetic link for myocardial infarction and coronary artery disease.
Alsmadi O, Muiya P, Khalak H, Al-Saud H, Meyer BF, Al-Mohanna F, Alshahid M, Dzimiri N.
Ann Hum Genet 73(Pt 5):475-83. doi: 10.1111/j.1469-1809.2009.00534.x. Epub 2009 Jun 16. 2009
12ADAMTS3, AKAP6, ALMS1, ANKRD28, AREL1, ARHGEF10, ARHGEF11, ARHGEF17, ARNT2, BAZ2A, CABIN1, CAST, CHD9, CIC, CLEC16A, CLOCK, CTNND1, DCLK1, DDX46, DIDO1, DNAH9, DNM3, DOCK3, DYNC1H1, ECM29, ENTPD4, EPB41L1, EZH1, FAM65B, FRMPD4, GCC2, HECW1, HERC2, HISPPD1, HUWE1, IGSF1, KAT6B, KIAA0319, KIAA0323, KIAA0355, KIAA0379, KIF3B, KMT2B, LBA1, MADD, MAST4, MCF2L, MDN1, MTMR3, MYO6, N4BP3, NACAD, NRCAM, PCDH9, PCDHGA8, PCDHGC3, PDZD2, PER2, PFAS, PLEKHM1, PLXNB2, PRORP, PRUNE2, PTPRN2, RAPGEF2, RIMBP2, RIMS1, RUSC2, SALL2, SEC16A, SEMA3C, SEMA3E, SETD1A, SFRS14, SNPH, SPECC1L, SPTBN2, SR140, SRCAP, SRRM2, SYNJ2, TECPR2, TLN2, TRIM66, TTC37, UBR2, WNK1, XPO6, ZBTB39, ZBTB5, ZFYVE16, ZFYVE26, ZMYM3, ZNF518A, ZNF609, ZNF629, ZNF646
Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A,Kotani H, Nomura N, Ohara O.
DNA Res 4(2):141-50. 1997