Communications Biology (Aug 2022)
Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency
- Bryan J. González,
- Haoquan Zhao,
- Jacqueline Niu,
- Damian J. Williams,
- Jaeyop Lee,
- Chris N. Goulbourne,
- Yuan Xing,
- Yong Wang,
- Jose Oberholzer,
- Maria H. Blumenkrantz,
- Xiaojuan Chen,
- Charles A. LeDuc,
- Wendy K. Chung,
- Henry M. Colecraft,
- Jesper Gromada,
- Yufeng Shen,
- Robin S. Goland,
- Rudolph L. Leibel,
- Dieter Egli
Affiliations
- Bryan J. González
- Naomi Berrie Diabetes Center & Departments of Pediatrics and Medicine, Vagelos College of Physicians and Surgeons, Columbia University
- Haoquan Zhao
- Department of Systems Biology, Columbia University Medical Center
- Jacqueline Niu
- Department of Physiology and Cellular Biophysics, College of Physicians and Surgeons, Columbia University
- Damian J. Williams
- Stem Cell Core Facility, Department of Rehabilitation and Regenerative Medicine, Columbia University
- Jaeyop Lee
- Department of Systems Biology, Columbia University Medical Center
- Chris N. Goulbourne
- Center for Dementia Research, Nathan S. Kline Institute
- Yuan Xing
- Department of Surgery, University of Virginia
- Yong Wang
- Department of Surgery, University of Virginia
- Jose Oberholzer
- Department of Surgery, University of Virginia
- Maria H. Blumenkrantz
- Naomi Berrie Diabetes Center & Departments of Pediatrics and Medicine, Vagelos College of Physicians and Surgeons, Columbia University
- Xiaojuan Chen
- Columbia Center for Translational Immunology, Department of Surgery, Columbia University Medical Center
- Charles A. LeDuc
- Naomi Berrie Diabetes Center & Departments of Pediatrics and Medicine, Vagelos College of Physicians and Surgeons, Columbia University
- Wendy K. Chung
- Naomi Berrie Diabetes Center & Departments of Pediatrics and Medicine, Vagelos College of Physicians and Surgeons, Columbia University
- Henry M. Colecraft
- Department of Physiology and Cellular Biophysics, College of Physicians and Surgeons, Columbia University
- Jesper Gromada
- Regeneron Pharmaceuticals
- Yufeng Shen
- Department of Systems Biology, Columbia University Medical Center
- Robin S. Goland
- Naomi Berrie Diabetes Center & Departments of Pediatrics and Medicine, Vagelos College of Physicians and Surgeons, Columbia University
- Rudolph L. Leibel
- Naomi Berrie Diabetes Center & Departments of Pediatrics and Medicine, Vagelos College of Physicians and Surgeons, Columbia University
- Dieter Egli
- Naomi Berrie Diabetes Center & Departments of Pediatrics and Medicine, Vagelos College of Physicians and Surgeons, Columbia University
- DOI
- https://doi.org/10.1038/s42003-022-03696-z
- Journal volume & issue
-
Vol. 5,
no. 1
pp. 1 – 17
Abstract
hPSCs model of Maturity Onset Diabetes of the Young caused by mutations in the transcription factor HNF1A (HNF1A-MODY), regulates the expression of genes required for the formation of dense-core insulin granules and calcium-dependent insulin secretion, demonstrating a basis to treat HNF1A-MODY patients with sulfonylureas.
