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

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...

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Vydáno v:J Lipid Res
Hlavní autoři: Gluchowski, Nina L., Chitraju, Chandramohan, Picoraro, Joseph A., Mejhert, Niklas, Pinto, Shirly, Xin, Winnie, Kamin, Daniel S., Winter, Harland S., Chung, Wendy K., Walther, Tobias C., Farese, Robert V.
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society for Biochemistry and Molecular Biology 2017
Témata:
Patient-Oriented and Epidemiological Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5454518/
https://ncbi.nlm.nih.gov/pubmed/28373485
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.P075119
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