Article
Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism.
European journal of medical genetics - 1 Apr 2020
Gupta Aditi, Dsouza Nikita R, Zarate Yuri A, Lombardo Rachel, Hopkin Robert, Linehan Allison R, Simpson Jamela, McCarrier Julie, Agre Katherine E, Gavrilova Ralitza H, Stephens Michael C, Grothe Rayna M, Monaghan Kristin G, Xie Yili, Basel Donald, Urrutia Raul A, Cole Conrad R, Klee Eric W, Zimmermann Michael T
Abstract excerpt
BACKGROUND: DGAT1, a gene encoding a protein involved in lipid metabolism, has been recently implicated in causing a rare nutritional and digestive disease presenting as Congenital Diarrheal Disorder (CDD). Genetic causes of malnutrition can be classified as metabolic disorders, caused by loss of a specific enzyme's function. However, disease driven by genetic variants in lipid metabolism genes is not well...
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