AI Article Synopsis
- Research on cholestasis has revealed that genetic factors play a crucial role in liver function and disease.
- Mutations in the TJP2 gene disrupt protein localization and tight-junction structures, resulting in severe liver complications.
- The study's results differ from previous findings in knockout mice, emphasizing variations in junctional complex redundancy across different organs and species.
Article Abstract
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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4061468 | PMC |
| http://dx.doi.org/10.1038/ng.2918 | DOI Listing |
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