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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Hochberg, Irit; Demain, Leigh A M; Richer, Julie; Thompson, Kyle; Urquhart, Jill E; Rea, Alessandro; Pagarkar, Waheeda; Rodríguez-Palmero, Agustí; Schlüter, Agatha; Verdura, Edgard; Pujol, Aurora; Quijada-Fraile, Pilar; Amberger, Albert; Deutschmann, Andrea J; Demetz, Sandra; Gillespie, Meredith; Belyantseva, Inna A; McMillan, Hugh J; Barzik, Melanie; Beaman, Glenda M; Motha, Reeya; Ng, Kah Ying; O'Sullivan, James; Williams, Simon G; Bhaskar, Sanjeev S; Lawrence, Isabella R; Jenkinson, Emma M; Zambonin, Jessica L; Blumenfeld, Zeev; Yalonetsky, Sergey; Oerum, Stephanie; Rossmanith, Walter; Yue, Wyatt W; Zschocke, Johannes; Munro, Kevin J; Battersby, Brendan J; Friedman, Thomas B; Taylor, Robert W; O'Keefe, Raymond T; Newman, William G.
Affiliation
  • Hochberg I; Institute of Endocrinology, Diabetes, and Metabolism, Rambam Health Care Campus, Haifa 3109601, Israel; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3109601, Israel.
  • Demain LAM; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
  • Richer J; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
  • Thompson K; Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Urquhart JE; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
  • Rea A; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
  • Pagarkar W; Royal National ENT and Eastman Dental Hospital, University College London Hospitals, London WC1E 6DG, UK.
  • Rodríguez-Palmero A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, and Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain; Paediatric Neurology Unit, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, 08916 Barcel
  • Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, and Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain.
  • Verdura E; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, and Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain.
  • Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, and Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain; Catalan Institution for Research and Advanced Studies, 08010 Barcelona, Spain.
  • Quijada-Fraile P; Unit of Mitochondrial and Inherited Metabolic Diseases, Pediatric Department, University Hospital 12 de Octubre, National Reference Center, European Reference Network for Hereditary Metabolic Disorders, 28041 Madrid, Spain.
  • Amberger A; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.
  • Deutschmann AJ; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.
  • Demetz S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.
  • Gillespie M; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
  • Belyantseva IA; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-3729, USA.
  • McMillan HJ; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Barzik M; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-3729, USA.
  • Beaman GM; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
  • Motha R; The Royal London Hospital, Whitechapel Road, Whitechapel, London E1 1FR, UK.
  • Ng KY; Institute of Biotechnology, University of Helsinki, 00790 Helsinki, Finland.
  • O'Sullivan J; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
  • Williams SG; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
  • Bhaskar SS; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
  • Lawrence IR; Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Jenkinson EM; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK.
  • Zambonin JL; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
  • Blumenfeld Z; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3109601, Israel.
  • Yalonetsky S; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON K1H 8L1, Canada; Department of Pediatric Cardiology, Rambam Health Care Campus, Haifa 3109601, Israel.
  • Oerum S; Newcastle MX Structural Biology Laboratory, Newcastle University, Medical School, NUBI Framlington Place, Newcastle upon Tyne NE2 4HH, UK.
  • Rossmanith W; Center for Anatomy and Cell Biology, Medical University of Vienna, 1090 Vienna, Austria.
  • Yue WW; Newcastle MX Structural Biology Laboratory, Newcastle University, Medical School, NUBI Framlington Place, Newcastle upon Tyne NE2 4HH, UK.
  • Zschocke J; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.
  • Munro KJ; Manchester Centre for Audiology and Deafness, School of Health Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
  • Battersby BJ; Institute of Biotechnology, University of Helsinki, 00790 Helsinki, Finland.
  • Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-3729, USA.
  • Taylor RW; Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • O'Keefe RT; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK. Electronic address: rokeefe@manchester.ac.uk.
  • Newman WG; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address: william.newman@manchest
Am J Hum Genet ; 108(11): 2195-2204, 2021 11 04.
Article in En | MEDLINE | ID: mdl-34715011
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA, Transfer / Ribonuclease P / Alleles / Genetic Pleiotropy / RNA, Mitochondrial / Mitochondria Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2021 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA, Transfer / Ribonuclease P / Alleles / Genetic Pleiotropy / RNA, Mitochondrial / Mitochondria Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2021 Document type: Article Affiliation country: Country of publication: