Elucidating genetic causes of cholestasis has proved to be important in understanding the physiology and pathophysiology of the liver. Here we show that protein-truncating mutations in the tight junction protein 2 gene (TJP2) cause failure of protein localization and disruption of tight-junction structure, leading to severe cholestatic liver disease. These findings contrast with those in the embryonic-lethal knockout mouse, highlighting differences in redundancy in junctional complexes between organs and species. © 2014 Nature America, Inc.
CITATION STYLE
Sambrotta, M., Strautnieks, S., Papouli, E., Rushton, P., Clark, B. E., Parry, D. A., … Thompson, R. J. (2014). Mutations in TJP2 cause progressive cholestatic liver disease. Nature Genetics, 46(4), 326–328. https://doi.org/10.1038/ng.2918
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