Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production.

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作者： Helen,Chen ^[1] ; A Kaitlyn,Victor ^[2] ; Jonathon,Klein ^[1] ; Klementina Fon,Tacer ^[1] ; Derek Jc,Tai ^[3] ; Celine,de Esch ^[4] ; Alexander,Nuttle ^[5] ; Jamshid,Temirov ^[3] ; Lisa C,Burnett ^[4] ; Michael,Rosenbaum ^[5] ; Yiying,Zhang ^[3] ; Li,Ding ^[4] ; James J,Moresco ^[5] ; Jolene K,Diedrich ^[1] ; John R,Yates ^[6] ; Heather S,Tillman ^[7] ; Rudolph L,Leibel ^[7] ; Michael E,Talkowski ^[7] ; Daniel D,Billadeau ^[8] ; Lawrence T,Reiter ^[9] ; Patrick Ryan,Potts ^[9]

作者单位： Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA. ^[1] Department of Neurology, Department of Pediatrics, and Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, Tennessee, USA. ^[2] Center for Genomic Medicine, Department of Neurology, Department of Pathology, and Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA. ^[3] Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA. ^[4] Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, Massachusetts, USA. ^[5] Levo Therapeutics, Inc., Skokie, Illinois, USA. ^[6] Division of Molecular Genetics, Department of Pediatrics, and Naomi Berrie Diabetes Center, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, USA. ^[7] Division of Oncology Research and Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, Minnesota, USA. ^[8] Department of Molecular Medicine, The Scripps Research Institute, La Jolla, California, USA. ^[9] Veterinary Pathology Core, St. Jude Children's Research Hospital, Memphis, Tennessee, USA. ^[10]

关键词 Cell Biology Neurodevelopment Neuroscience Protein traffic iPS cells

主题词动物(Animals);抗原, 肿瘤(Antigens, Neoplasm);女(雌)性(Female);人类(Humans);下丘脑(Hypothalamus);男(雄)性(Male);小鼠(Mice);小鼠, 近交C57BL(Mice, Inbred C57BL);小鼠, 基因敲除(Mice, Knockout);神经元(Neurons);神经肽类(Neuropeptides);表型(Phenotype);Prader-Willi综合征(Prader-Willi Syndrome);蛋白质转运(Protein Transport);蛋白质类(Proteins);蛋白质组(Proteome);分泌小泡(Secretory Vesicles)

DOI 10.1172/jci.insight.138576

PMID 32879135

发布时间 2021-06-16

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2020年5卷17期

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Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production.

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Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production.

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