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Deficiency in Prohormone Convertase PC1 Impairs Prohormone Processing in Prader-Willi Syndrome.

Research ArticleEndocrinologyGenetics Free access | 10.1172/JCI88648 Lisa C. Burnett,1,2,3 Charles A. LeDuc,2,3,4 Carlos R. Sulsona,5 Daniel Paull,6 Richard Rausch,2,3 Sanaa Eddiry,7 Jayne F. Martin Carli,2,3,8 Michael V. Morabito,2,3 Alicja A. Skowronski,1,2,3 Gabriela Hubner,9 Matthew Zimmer,6 Liheng Wang,2,3 Robert Day,10 Brynn Levy,11 Ilene Fennoy,12 Beatrice Dubern,13 Christine Poitou,13 Karine Clement,13 Merlin G. Butler,14 Michael Rosenbaum,2,3 Jean Pierre Salles,7,15 Maithe Tauber,7,15,16 Daniel J. Driscoll,5,17 Dieter Egli,2,3,6 and Rudolph L. Leibel2,3,4 1Institute of Human Nutrition, 2Department of Pediatrics, Division of Molecular Genetics, and 3Naomi Berrie Diabetes Center, Columbia University, New York, New York, USA. 4New York Obesity Research Center, New York, New York, USA. 5Department of Pediatrics, Division of Genetics and Metabolism, University of Florida College of Medicine Gainesville, Florida, USA. 6The New York Stem Cell Foundation Research Institute, New York, New York, USA. 7Centre de Physiopathologie de Toulouse-Purpan, Université de Toulouse, CNRS UMR 5282, INSERM UMR 1043, Université Paul Sabatier, Toulouse, France. 8Department of Biochemistry and Molecular Biophysics, Columbia University, New York, New York, USA. 9Packer Collegiate Institute, New York, New York, USA. 10Institut de pharmacologie de Sherbrooke, Department of Surgery, Division of Urology, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Quebec, Canada. 11Department of Pathology and Cell Biology, Columbia University, New York, New York, USA. 12Department of Pediatrics, Division of Pediatric Diabetes, Endocrinology and Metabolism, Columbia University, New York, New York, USA. 13Institute of Cardiometabolism and Nutrition, Assistance Publique Hôpitaux de Paris, Sorbonne University, University Pierre et Marie-Curie, INSERM UMRS 1166, Paris, France. 14Department of Psychiatry and Behavioral Sciences, Division of Research and Genetics, Kansas University Medical Center, Kansas City, Kansas, USA. 15Unité d’Endocrinologie, Hôpital des Enfants, and 16Centre de Référence du Syndrome de Prader-Willi, CHU Toulouse, Toulouse, France. 17Center for Epigenetics, University of Florida College of Medicine, Gainesville, Florida, USA. Address correspondence to: Lisa C. Burnett or Rudolph L. Leibel, 1150 St. Nicholas Avenue Russ Berrie Pavilion Room 620 New York, NY 10033; Phone: 212 851 5315; E-mail: lmc2200@cumc.columbia.edu (L.C. Burnett); rl2332@cumc.columbia.edu (R.L. Leibel). Find articles by Burnett, L. in: JCI | PubMed | Google Scholar 1Institute of Human Nutrition, 2Department of Pediatrics, Division of Molecular Genetics, and 3Naomi Berrie Diabetes Center, Columbia University, New York, New York, USA. 4New York Obesity Research Center, New York, New York, USA. 5Department of Pediatrics, Division of Genetics and Metabolism, University of Florida College of Medicine Gainesville, Florida, USA. 6The New York Stem Cell Foundation Research Institute, New York, New York, USA. 7Centre de Physiopathologie de Toulouse-Purpan, Université de Toulouse, CNRS UMR 5282, INSERM UMR 1043, Université Paul Sabatier, Toulouse, France. 8Department of Biochemistry and Molecular Biophysics, Columbia University, New York, New York, USA. 9Packer Collegiate Institute, New York, New York, USA. 10Institut de pharmacologie de Sherbrooke, Department of Surgery, Division of Urology, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Quebec, Canada. 11Department of Pathology and Cell Biology, Columbia University, New York, New York, USA. 12Department of Pediatrics, Division of Pediatric Diabetes, Endocrinology and Metabolism, Columbia University, New York, New York, USA. 13Institute of Cardiometabolism and Nutrition, Assistance Publique Hôpitaux de Paris, Sorbonne University, University Pierre et Marie-Curie, INSERM UMRS 1166, Paris, France. 14Department of Psychiatry and Behavioral Sciences, Division ofRead more…

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