Mutations in TJP2 cause progressive cholestatic liver disease.
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ABSTRACT:
SUBMITTER: Sambrotta M
PROVIDER: S-EPMC4061468 | biostudies-literature | 2014 Apr
REPOSITORIES: biostudies-literature
Publications
Mutations in TJP2 cause progressive cholestatic liver disease.
Sambrotta Melissa M Strautnieks Sandra S Papouli Efterpi E Rushton Peter P Clark Barnaby E BE Parry David A DA Logan Clare V CV Newbury Lucy J LJ Kamath Binita M BM Ling Simon S Grammatikopoulos Tassos T Wagner Bart E BE Magee John C JC Sokol Ronald J RJ Mieli-Vergani Giorgina G Smith Joshua D JD Johnson Colin A CA McClean Patricia P Simpson Michael A MA Knisely A S AS Bull Laura N LN Thompson Richard J RJ
Nature genetics 20140309 4
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 o ...[more]
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