Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome

Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome

Abstract The canonical G406R mutation that increases Ca2+ influx through the CACNA1C-encoded CaV1.2 Ca2+ channel underlies the multisystem disorder Timothy syndrome (TS), characterized by life-threatening arrhythmias. Severe episodic hypoglycemia is among the poorly characterized non-cardiac TS path...

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Main Authors: Maiko Matsui, Lauren E. Lynch, Isabella Distefano, Allison Galante, Aravind R. Gade, Hong-Gang Wang, Nicolas Gómez-Banoy, Patrick Towers, Daniel S. Sinden, Eric Q. Wei, Adam S. Barnett, Kenneth Johnson, Renan Lima, Alfonso Rubio-Navarro, Ang K. Li, Steven O. Marx, Timothy E. McGraw, Paul S. Thornton, Katherine W. Timothy, James C. Lo, Geoffrey S. Pitt
Format: Article
Language:English
Published: Nature Portfolio 2024-10-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-024-52885-3
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