The trappc11 mutation in zebrafish causes a stressed UPR, leading to fatty liver disease. This phenotype is not due to a trafficking defect but instead results from N-glycosylation defects. Hypoglycosylation and lipid accumulation are also found in patient cells with knockdown or mutated TRAPPC11 genes, suggesting a common etiology with zebrafish.
trappc11 is required for protein glycosylation in zebrafish and humans
C. DeRossi,Ana M. Vacaru,Ruhina Rafiq,A. Cinaroglu,D. Imrie,Shikha Nayar,A. Baryshnikova,Miroslav P. Milev,Daniela Stanga,Dhara Kadakia,Ningguo Gao,Jaime Chu,H. Freeze,M. Lehrman,M. Sacher,K. Sadler
Published 2016 in Molecular Biology of the Cell
ABSTRACT
PUBLICATION RECORD
- Publication year
2016
- Venue
Molecular Biology of the Cell
- Publication date
2016-04-15
- Fields of study
Biology, Medicine
- Identifiers
- External record
- Source metadata
Semantic Scholar, PubMed
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