Human stem cell model of HNF1A deficiency shows uncoupled insulin to C-peptide secretion with accumulation of abnormal insulin granules

作者: Rudolph L Leibel , Jesper Gromada , Jose Oberholzer , Charles A LeDuc , Yufeng Shen

DOI: 10.1101/2021.01.26.428260

关键词:

摘要: … of secreted insulin to C-peptide. In HNF1A deficient β-cells, … by glucose, and restores C-peptide and insulin secretion to a … proportions of insulin:C-peptide in nine MODY3 patients. …

参考文章(59)
Shelburne Jd, Wells Sa, Sherwood Lm, Gunnells Jc, Schneider Ab, Transplantation of the parathyroid glands in man: clinical indications and results. Surgery. ,vol. 78, pp. 34- 44 ,(1975)
P. Arvan, R. Kuliawat, D. Prabakaran, A.M. Zavacki, D. Elahi, S. Wang, D. Pilkey, Protein discharge from immature secretory granules displays both regulated and constitutive characteristics. Journal of Biological Chemistry. ,vol. 266, pp. 14171- 14174 ,(1991) , 10.1016/S0021-9258(18)98661-8
Bingbing Wu, Shunhui Wei, Natalia Petersen, Yusuf Ali, Xiaorui Wang, Taulant Bacaj, Patrik Rorsman, Wanjin Hong, Thomas C. Südhof, Weiping Han, Synaptotagmin-7 phosphorylation mediates GLP-1-dependent potentiation of insulin secretion from β-cells. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 112, pp. 9996- 10001 ,(2015) , 10.1073/PNAS.1513004112
Zhiyong Gao, John Reavey-Cantwell, Robert A. Young, Patricia Jegier, Bryan A. Wolf, Synaptotagmin III/VII Isoforms Mediate Ca2+-induced Insulin Secretion in Pancreatic Islet β-Cells Journal of Biological Chemistry. ,vol. 275, pp. 36079- 36085 ,(2000) , 10.1074/JBC.M004284200
Dalia Toaima, Andrea Näke, Jutta Wendenburg, Kirsten Praedicow, Julia Rohayem, Kerstin Engel, Angela Galler, Manfred Gahr, Min Ae Lee-Kirsch, Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY). Human Mutation. ,vol. 25, pp. 503- 504 ,(2005) , 10.1002/HUMU.9334
Stefan S. Fajans, Graeme I. Bell, Kenneth S. Polonsky, Molecular Mechanisms and Clinical Pathophysiology of Maturity-Onset Diabetes of the Young The New England Journal of Medicine. ,vol. 345, pp. 971- 980 ,(2001) , 10.1056/NEJMRA002168
Vikash Chandra, Olivier Albagli-Curiel, Benoit Hastoy, Julie Piccand, Clotilde Randriamampita, Emmanuel Vaillant, Hélène Cavé, Kanetee Busiah, Philippe Froguel, Martine Vaxillaire, Patrik Rorsman, Michel Polak, Raphael Scharfmann, RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human β cells. Cell Reports. ,vol. 9, pp. 2206- 2218 ,(2014) , 10.1016/J.CELREP.2014.11.010