Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea[S]

Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea[S]

Acyl-CoA:diacylglycerol acyltransferase (DGAT)1 and DGAT2 catalyze triglyceride (TG) biosynthesis in humans. Biallelic loss-of-function mutations in human DGAT1 result in severe congenital diarrhea and protein-losing enteropathy. Additionally, pharmacologic inhibition of DGAT1 led to dose-related di...

Full description

Bibliographic Details
Main Authors: Nina L. Gluchowski, Chandramohan Chitraju, Joseph A. Picoraro, Niklas Mejhert, Shirly Pinto, Winnie Xin, Daniel S. Kamin, Harland S. Winter, Wendy K. Chung, Tobias C. Walther, Robert V. Farese, Jr.
Format: Article
Language:English
Published: Elsevier 2017-06-01
Series:Journal of Lipid Research
Subjects:
protein-losing enteropathy
intestine
genetics
triglycerides
lipid droplets
diet and dietary lipids
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520310154

Internet

http://www.sciencedirect.com/science/article/pii/S0022227520310154

Similar Items