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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
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Hochberg, Irit (Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa) ;
Demain, Leigh A. M. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Richer, Julie (Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa) ;
Thompson, Kyle (Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University) ;
Urquhart, Jill E. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Rea, Alessandro (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Pagarkar, Waheeda (Royal National ENT and Eastman Dental Hospital, University College London Hospitals) ;
Rodríguez-Palmero, Agustí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Schlüter, Agatha (Institut d'Investigació Biomèdica de Bellvitge) ;
Verdura, Edgard (Institut d'Investigació Biomèdica de Bellvitge) ;
Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ;
Quijada-Fraile, Pilar (Hospital Universitario 12 de Octubre (Madrid)) ;
Amberger, Albert (Institute of Human Genetics, Medical University Innsbruck) ;
Deutschmann, Andrea J. (Institute of Human Genetics, Medical University Innsbruck) ;
Demetz, Sandra (Institute of Human Genetics, Medical University Innsbruck) ;
Gillespie, Meredith (Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa) ;
Belyantseva, Inna A. (Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD) ;
McMillan, Hugh J. (Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa) ;
Barzik, Melanie (Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD) ;
Beaman, Glenda M. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Motha, Reeya (The Royal London Hospital) ;
Ng, Kah Ying (Institute of Biotechnology, University of Helsinki) ;
O'Sullivan, James (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Williams, Simon G. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Bhaskar, Sanjeev S. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Lawrence, Isabella R. (Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University) ;
Jenkinson, Emma M. (Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester) ;
Zambonin, Jessica L. (Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa) ;
Blumenfeld, Zeev (Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa) ;
Yalonetsky, Sergey (Department of Pediatric Cardiology, Rambam Health Care Campus, Haifa) ;
Oerum, Stephanie (Newcastle MX Structural Biology Laboratory, Newcastle University) ;
Rossmanith, Walter (Center for Anatomy and Cell Biology, Medical University of Vienna) ;
Yue, Wyatt W. (Newcastle MX Structural Biology Laboratory, Newcastle University) ;
Zschocke, Johannes (Institute of Human Genetics, Medical University Innsbruck) ;
Munro, Kevin J. (Manchester University NHS Foundation Trust) ;
Battersby, Brendan J. (Institute of Biotechnology, University of Helsinki) ;
Friedman, Thomas B. (Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD) ;
Taylor, Robert W. (Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University) ;
O'Keefe, Raymond T. (Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester) ;
Newman, William G. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust)
Human mitochondrial RNase P (mt-RNase P) is responsible for 5' end processing of mitochondrial precursor tRNAs, a vital step in mitochondrial RNA maturation, and is comprised of three protein subunits: TRMT10C, SDR5C1 (HSD10), and PRORP. [...]
2021 -  10.1016/j.ajhg.2021.10.002
American Journal of Human Genetics, Vol. 108 (november 2021) , p. 2195-2204
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