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Csde1 binds transcripts involved in protein homeostasis and controls their expression in an erythroid cell line.

Autor: Moore KS; Department Hematopoiesis, Sanquin, and Landsteiner Laboratory AMC/UvA, 1066 CX, Amsterdam, The Netherlands., Yagci N; Department Hematopoiesis, Sanquin, and Landsteiner Laboratory AMC/UvA, 1066 CX, Amsterdam, The Netherlands., van Alphen F; Department of Plasma proteins, Sanquin Research, 1066 CX, Amsterdam, The Netherlands., Paolini NA; Department Hematopoiesis, Sanquin, and Landsteiner Laboratory AMC/UvA, 1066 CX, Amsterdam, The Netherlands., Horos R; European Molecular Biology Laboratory, 69117, Heidelberg, Germany., Held NM; Laboratory Genetic Metabolic Diseases, Academic Medical Center, 1105 AZ, Amsterdam, The Netherlands., Houtkooper RH; Laboratory Genetic Metabolic Diseases, Academic Medical Center, 1105 AZ, Amsterdam, The Netherlands., van den Akker E; Department Hematopoiesis, Sanquin, and Landsteiner Laboratory AMC/UvA, 1066 CX, Amsterdam, The Netherlands., Meijer AB; Department of Plasma proteins, Sanquin Research, 1066 CX, Amsterdam, The Netherlands.; Department of Biomolecular Mass Spectrometry and Proteomics, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands., 't Hoen PAC; Center for Human and Clinical Genetics, Leiden University Medical Center, 2300 RC, Leiden, The Netherlands., von Lindern M; Department Hematopoiesis, Sanquin, and Landsteiner Laboratory AMC/UvA, 1066 CX, Amsterdam, The Netherlands. m.vonlindern@sanquin.nl.

Publikováno v: Scientific reports [Sci Rep] 2018 Feb 08; Vol. 8 (1), pp. 2628. Date of Electronic Publication: 2018 Feb 08.

A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.

Autor: Paolini NA; Department of Hematopoiesis, Sanquin, and Landsteiner Laboratory, AMC/UvA, 1066 CX Amsterdam, the Netherlands., Attwood M; Target Discovery Institute, University of Oxford, Oxford, OX3 7FZ, UK., Sondalle SB; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA., Vieira CMDS; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD 20742, USA., van Adrichem AM; Laboratory Genetic Metabolic Diseases, Academic Medical Center, 1105 AZ Amsterdam, the Netherlands., di Summa FM; Department of Hematopoiesis, Sanquin, and Landsteiner Laboratory, AMC/UvA, 1066 CX Amsterdam, the Netherlands., O'Donohue MF; LBME, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, 31000 Toulouse, France., Gleizes PE; LBME, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, 31000 Toulouse, France., Rachuri S; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD 20742, USA., Briggs JW; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD 20742, USA., Fischer R; Target Discovery Institute, University of Oxford, Oxford, OX3 7FZ, UK., Ratcliffe PJ; Target Discovery Institute, University of Oxford, Oxford, OX3 7FZ, UK., Wlodarski MW; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Houtkooper RH; Laboratory Genetic Metabolic Diseases, Academic Medical Center, 1105 AZ Amsterdam, the Netherlands., von Lindern M; Department of Hematopoiesis, Sanquin, and Landsteiner Laboratory, AMC/UvA, 1066 CX Amsterdam, the Netherlands., Kuijpers TW; Department of Pediatric Hematology, Immunology and Infectious Diseases, Emma Children's Hospital, Academic Medical Center, 1105 AZ Amsterdam, the Netherlands., Dinman JD; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD 20742, USA., Baserga SJ; Department of Molecular Biophysics and Biochemistry, Genetics, and Therapeutic Radiology, Yale University School of Medicine, New Haven, CT 06520, USA., Cockman ME; Target Discovery Institute, University of Oxford, Oxford, OX3 7FZ, UK., MacInnes AW; Department of Hematopoiesis, Sanquin, and Landsteiner Laboratory, AMC/UvA, 1066 CX Amsterdam, the Netherlands; Laboratory Genetic Metabolic Diseases, Academic Medical Center, 1105 AZ Amsterdam, the Netherlands. Electronic address: a.w.macinnes@amc.nl.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2017 Mar 02; Vol. 100 (3), pp. 506-522.