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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake, Nicole J; Webb, Bryn D; Stroud, David A; Richman, Tara R; Ruzzenente, Benedetta; Compton, Alison G; Mountford, Hayley S; Pulman, Juliette; Zangarelli, Coralie; Rio, Marlene; Boddaert, Nathalie; Assouline, Zahra; Sherpa, Mingma D; Schadt, Eric E; Houten, Sander M; Byrnes, James; McCormick, Elizabeth M; Zolkipli-Cunningham, Zarazuela; Haude, Katrina; Zhang, Zhancheng; Retterer, Kyle; Bai, Renkui; Calvo, Sarah E; Mootha, Vamsi K; Christodoulou, John; Rötig, Agnes; Filipovska, Aleksandra; Cristian, Ingrid; Falk, Marni J; Metodiev, Metodi D; Thorburn, David R.
Afiliación
  • Lake NJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Webb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New
  • Stroud DA; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton Campus, Melbourne, VIC 3800, Australia.
  • Richman TR; Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
  • Ruzzenente B; INSERM U1163, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.
  • Compton AG; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Mountford HS; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Department of Biological and Medical Sciences, Faculty of Health Sciences, Oxford Brookes University, Oxford OX3 0BP,
  • Pulman J; INSERM U1163, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.
  • Zangarelli C; INSERM U1163, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.
  • Rio M; Departments of Pediatric, Neurology and Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris, France.
  • Boddaert N; Pediatric Radiology Department, Hôpital Necker Enfants Malades, AP-HP, University René Descartes, PRES Sorbonne Paris Cité, INSERM U1000 and UMR 1163, Institut Imagine, 75015 Paris, France.
  • Assouline Z; Departments of Pediatric, Neurology and Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris, France.
  • Sherpa MD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Schadt EE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Houten SM; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Byrnes J; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • McCormick EM; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Zolkipli-Cunningham Z; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Haude K; GeneDx, Gaithersburg, MD 20877, USA.
  • Zhang Z; GeneDx, Gaithersburg, MD 20877, USA.
  • Retterer K; GeneDx, Gaithersburg, MD 20877, USA.
  • Bai R; GeneDx, Gaithersburg, MD 20877, USA.
  • Calvo SE; Howard Hughes Medical Institute, Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Mootha VK; Howard Hughes Medical Institute, Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Christodoulou J; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Rötig A; INSERM U1163, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.
  • Filipovska A; Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia; School of Molecular Sciences, University of Western Australia, Crawley, WA 6009, Australia.
  • Cristian I; Nemours Children's Hospital, Orlando, FL 32827, USA; Division of Genetics, Arnold Palmer Hospital for Children, Orlando, FL 32806, USA.
  • Falk MJ; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
  • Metodiev MD; INSERM U1163, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.
  • Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Victorian Clinical Genetic Services, Royal Children's Hospital, Melbourne, VIC 3052, Australia. Electronic address: da
Am J Hum Genet ; 101(2): 239-254, 2017 Aug 03.
Article en En | MEDLINE | ID: mdl-28777931
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Ribosómicas / ADN Mitocondrial / Enfermedad de Leigh / Enfermedades Mitocondriales / Proteínas Mitocondriales / Subunidades Ribosómicas Pequeñas de Eucariotas Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2017 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Ribosómicas / ADN Mitocondrial / Enfermedad de Leigh / Enfermedades Mitocondriales / Proteínas Mitocondriales / Subunidades Ribosómicas Pequeñas de Eucariotas Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2017 Tipo del documento: Article