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Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.
Lezzerini, Marco; Penzo, Marianna; O'Donohue, Marie-Françoise; Marques Dos Santos Vieira, Carolina; Saby, Manon; Elfrink, Hyung L; Diets, Illja J; Hesse, Anne-Marie; Couté, Yohann; Gastou, Marc; Nin-Velez, Alexandra; Nikkels, Peter G J; Olson, Alexandra N; Zonneveld-Huijssoon, Evelien; Jongmans, Marjolijn C J; Zhang, GuangJun; van Weeghel, Michel; Houtkooper, Riekelt H; Wlodarski, Marcin W; Kuiper, Roland P; Bierings, Marc B; van der Werff Ten Bosch, Jutte; Leblanc, Thierry; Montanaro, Lorenzo; Dinman, Jonathan D; Da Costa, Lydie; Gleizes, Pierre-Emmanuel; MacInnes, Alyson W.
Afiliação
  • Lezzerini M; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
  • Penzo M; Laboratorio di Patologia Clinica, Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale and Centro di Ricerca Biomedica Applicata (CRBA), Policlinico Universitario di S. Orsola, Università di Bologna,Via Massarenti 9, 40138 Bologna, Italy.
  • O'Donohue MF; LBME, Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, UPS, 31000 Toulouse, France.
  • Marques Dos Santos Vieira C; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, USA.
  • Saby M; INSERM UMR S1134, F-75015, Paris, France.
  • Elfrink HL; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
  • Diets IJ; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Core Facility Metabolomics, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
  • Hesse AM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Couté Y; University Grenoble Alpes, CEA, INSERM, IRIG, BGE, F-38000 Grenoble, France.
  • Gastou M; University Grenoble Alpes, CEA, INSERM, IRIG, BGE, F-38000 Grenoble, France.
  • Nin-Velez A; Paris University, Paris, France.
  • Nikkels PGJ; Laboratory of Excellence for Red Cell, LABEX GR-Ex, F-75015, Paris, France.
  • Olson AN; Institute Gustave Roussy, Inserm unit U1170, F-94800 Villejuif, France.
  • Zonneveld-Huijssoon E; Department of Comparative Biology and Center for Cancer Research, Purdue University, West Lafayette, IN 47907, USA.
  • Jongmans MCJ; Department of Pathology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.
  • Zhang G; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, USA.
  • van Weeghel M; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands.
  • Houtkooper RH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Wlodarski MW; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands.
  • Kuiper RP; Princess Maxima Center for Pediatric Oncology and Utrecht University Children's Hospital, Utrecht, The Netherlands.
  • Bierings MB; Department of Comparative Biology and Center for Cancer Research, Purdue University, West Lafayette, IN 47907, USA.
  • van der Werff Ten Bosch J; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Core Facility Metabolomics, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
  • Leblanc T; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
  • Montanaro L; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, D-79106 Freiburg, Germany.
  • Dinman JD; St. Jude's Children Research Hospital, Memphis, TN, USA.
  • Da Costa L; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands.
  • Gleizes PE; Princess Maxima Center for Pediatric Oncology and Utrecht University Children's Hospital, Utrecht, The Netherlands.
  • MacInnes AW; Department of Pediatrics, Universitair Ziekenhuis Brussel, Brussels, Belgium.
Nucleic Acids Res ; 48(2): 770-787, 2020 01 24.
Article em En | MEDLINE | ID: mdl-31799629
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / Ribossomos / Processamento Pós-Transcricional do RNA / Anemia de Diamond-Blackfan Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Nucleic Acids Res Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda
Texto completo
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / Ribossomos / Processamento Pós-Transcricional do RNA / Anemia de Diamond-Blackfan Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Nucleic Acids Res Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda