Article

A structural and mechanistic model for BSEP dysfunction in PFIC2 cholestatic disease

2024-07-30

Abstract excerpt

BSEP ( ABCB11 ) transports bile salts across the canalicular membrane of hepatocytes, where they are incorporated into bile. Biallelic mutations in BSEP can cause Progressive Familial Intrahepatic Cholestasis Type 2 (PFIC2), a rare pediatric disease characterized by hepatic bile acid accumulation leading to hepatotoxicity and, ultimately, liver failure. The most frequently occurring PFIC2 disease-causing mutation...

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Literature Corpus work: 73bb6e8a-d408-5509-9711-07846d60187b
DOI: 10.1101/2024.07.29.605648

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