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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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Description
ISSN:1362-4962
DOI:10.1093/nar/gkz1042