Defective Lipid Droplet–Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115

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 charac...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8688563/
https://www.ncbi.nlm.nih.gov/pubmed/34626841
http://dx.doi.org/10.1016/j.jcmgh.2021.09.013

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