GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation.-论文-万方医学网

第一作者： Maria,Negahdar

第一单位： KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

作者： Maria,Negahdar ^[1] ; Ingvild,Aukrust ^[2] ; Janne,Molnes ^[3] ; Marie H,Solheim ^[4] ; Bente B,Johansson ^[5] ; Jørn V,Sagen ^[6] ; Knut,Dahl-Jørgensen ^[7] ; Rohit N,Kulkarni ^[8] ; Oddmund,Søvik ^[9] ; Torgeir,Flatmark ^[10] ; Pål R,Njølstad ^[11] ; Lise,Bjørkhaug ^[4]

作者单位： KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway. ^[1] KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway; Department of Biomedicine, University of Bergen, Bergen, Norway; Section of Islet Cell Biology and Regenerative Medicine, Joslin Diabetes Center, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. ^[2] KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway; Department of Biomedicine, University of Bergen, Bergen, Norway; Department of Pediatrics, Haukeland University Hospital, Bergen, Norway. ^[3] KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway; Department of Biomedicine, University of Bergen, Bergen, Norway. ^[4] KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway; Department of Pediatrics, Haukeland University Hospital, Bergen, Norway. ^[5] KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway; Institute of Medicine, University of Bergen, Bergen, Norway; Hormone Laboratory, Haukeland University Hospital, Bergen, Norway. ^[6] Pediatric Department Ullevaal, Oslo University Hospital, Oslo, Norway; Faculty of Medicine, University of Oslo, Oslo, Norway. ^[7] Section of Islet Cell Biology and Regenerative Medicine, Joslin Diabetes Center, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. ^[8] KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway. ^[9] Department of Biomedicine, University of Bergen, Bergen, Norway. ^[10] KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway; Department of Pediatrics, Haukeland University Hospital, Bergen, Norway. Electronic address: pal.njolstad@uib.no. ^[11]

医学主题词成年人(Adult);糖尿病, 2型(Diabetes Mellitus, Type 2);酶稳定性(Enzyme Stability);家庭(Family);女(雌)性(Female);葡糖激酶(Glucokinase);葡萄糖(Glucose);HEK293细胞(HEK293 Cells);人类(Humans);动力学(Kinetics);溶酶体(Lysosomes);男(雄)性(Male);突变蛋白质类(Mutant Proteins);突变(Mutation);巴基斯坦(Pakistan);系谱(Pedigree);表型(Phenotype);蛋白酶体内肽酶复合物(Proteasome Endopeptidase Complex);蛋白质折叠(Protein Folding);蛋白质多聚化(Protein Multimerization);蛋白平衡缺陷(Proteostasis Deficiencies);重组蛋白质类(Recombinant Proteins)

DOI 10.1016/j.mce.2013.08.020

PMID 24001579

发布时间 2022-04-09

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GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation.

Molecular and cellular endocrinology

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Molecular and cellular endocrinology

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GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation.

Molecular and cellular endocrinology

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同项目论文

Molecular and cellular endocrinology

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