Article
Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115.
Cellular and molecular gastroenterology and hepatology - 1 Jan 2022
Larsen Lars E, van den Boogert Marjolein A W, Rios-Ocampo Wilson A, Jansen Jos C, Conlon Donna, Chong Patrick L E, Levels J Han M, Eilers Roos E, Sachdev Vinay V, Zelcer Noam, Raabe Tobias, He Miao, Hand Nicholas J, Drenth Joost P H, Rader David J, Stroes Eric S G, Lefeber Dirk J, Jonker Johan W, Holleboom Adriaan G
Abstract excerpt
BACKGROUND & AIMS: Recently, novel inborn errors of metabolism were identified because of mutations in V-ATPase assembly factors TMEM199 and CCDC115. Patients are characterized by generalized protein glycosylation defects, hypercholesterolemia, and fatty liver disease. Here, we set out to characterize the lipid and fatty liver phenotype in human plasma, cell models, and a mouse model. METHODS AND RESULTS:...
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