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Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.

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Title: Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.
Authors: 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.; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Core Facility Metabolomics, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., Diets IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hesse AM; University Grenoble Alpes, CEA, INSERM, IRIG, BGE, F-38000 Grenoble, France., Couté Y; University Grenoble Alpes, CEA, INSERM, IRIG, BGE, F-38000 Grenoble, France., Gastou M; Paris University, Paris, France.; Laboratory of Excellence for Red Cell, LABEX GR-Ex, F-75015, Paris, France.; Institute Gustave Roussy, Inserm unit U1170, F-94800 Villejuif, France., Nin-Velez A; Department of Comparative Biology and Center for Cancer Research, Purdue University, West Lafayette, IN 47907, USA., Nikkels PGJ; Department of Pathology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., Olson AN; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, USA., Zonneveld-Huijssoon E; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands.; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Jongmans MCJ; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands.; Princess Maxima Center for Pediatric Oncology and Utrecht University Children's Hospital, Utrecht, The Netherlands., Zhang G; Department of Comparative Biology and Center for Cancer Research, Purdue University, West Lafayette, IN 47907, USA., van Weeghel M; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Core Facility Metabolomics, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., Houtkooper RH; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., Wlodarski MW; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, D-79106 Freiburg, Germany.; St. Jude's Children Research Hospital, Memphis, TN, USA., Kuiper RP; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands., Bierings MB; Princess Maxima Center for Pediatric Oncology and Utrecht University Children's Hospital, Utrecht, The Netherlands., van der Werff Ten Bosch J; Department of Pediatrics, Universitair Ziekenhuis Brussel, Brussels, Belgium., Leblanc T; Pediatric Hematology/Oncology Service, Robert Debré Hospital, F-75019 Paris, France., Montanaro L; 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., Dinman JD; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, USA., Da Costa L; INSERM UMR S1134, F-75015, Paris, France.; Paris University, Paris, France.; Laboratory of Excellence for Red Cell, LABEX GR-Ex, F-75015, Paris, France.; Hematology Lab, Robert Debré Hospital, F-75019 Paris, France., Gleizes PE; LBME, Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, UPS, 31000 Toulouse, France., MacInnes AW; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Source: Nucleic acids research [Nucleic Acids Res] 2020 Jan 24; Vol. 48 (2), pp. 770-787.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.
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Orsola, Università di Bologna,Via Massarenti 9, 40138 Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22O'Donohue+MF%22">O'Donohue MF</searchLink>; LBME, Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, UPS, 31000 Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Marques+Dos+Santos+Vieira+C%22">Marques Dos Santos Vieira C</searchLink>; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, USA.<br /><searchLink fieldCode="AU" term="%22Saby+M%22">Saby M</searchLink>; INSERM UMR S1134, F-75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Elfrink+HL%22">Elfrink HL</searchLink>; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Core Facility Metabolomics, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Diets+IJ%22">Diets IJ</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hesse+AM%22">Hesse AM</searchLink>; University Grenoble Alpes, CEA, INSERM, IRIG, BGE, F-38000 Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Couté+Y%22">Couté Y</searchLink>; University Grenoble Alpes, CEA, INSERM, IRIG, BGE, F-38000 Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Gastou+M%22">Gastou M</searchLink>; Paris University, Paris, France.; Laboratory of Excellence for Red Cell, LABEX GR-Ex, F-75015, Paris, France.; Institute Gustave Roussy, Inserm unit U1170, F-94800 Villejuif, France.<br /><searchLink fieldCode="AU" term="%22Nin-Velez+A%22">Nin-Velez A</searchLink>; Department of Comparative Biology and Center for Cancer Research, Purdue University, West Lafayette, IN 47907, USA.<br /><searchLink fieldCode="AU" term="%22Nikkels+PGJ%22">Nikkels PGJ</searchLink>; Department of Pathology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Olson+AN%22">Olson AN</searchLink>; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, USA.<br /><searchLink fieldCode="AU" term="%22Zonneveld-Huijssoon+E%22">Zonneveld-Huijssoon E</searchLink>; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands.; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Jongmans+MCJ%22">Jongmans MCJ</searchLink>; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands.; Princess Maxima Center for Pediatric Oncology and Utrecht University Children's Hospital, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Zhang+G%22">Zhang G</searchLink>; Department of Comparative Biology and Center for Cancer Research, Purdue University, West Lafayette, IN 47907, USA.<br /><searchLink fieldCode="AU" term="%22van+Weeghel+M%22">van Weeghel M</searchLink>; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Core Facility Metabolomics, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Houtkooper+RH%22">Houtkooper RH</searchLink>; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Wlodarski+MW%22">Wlodarski MW</searchLink>; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, D-79106 Freiburg, Germany.; St. Jude's Children Research Hospital, Memphis, TN, USA.<br /><searchLink fieldCode="AU" term="%22Kuiper+RP%22">Kuiper RP</searchLink>; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bierings+MB%22">Bierings MB</searchLink>; Princess Maxima Center for Pediatric Oncology and Utrecht University Children's Hospital, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Werff+Ten+Bosch+J%22">van der Werff Ten Bosch J</searchLink>; Department of Pediatrics, Universitair Ziekenhuis Brussel, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Leblanc+T%22">Leblanc T</searchLink>; Pediatric Hematology/Oncology Service, Robert Debré Hospital, F-75019 Paris, France.<br /><searchLink fieldCode="AU" term="%22Montanaro+L%22">Montanaro L</searchLink>; Laboratorio di Patologia Clinica, Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale and Centro di Ricerca Biomedica Applicata (CRBA), Policlinico Universitario di S. 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