Soo-ah Choi
Yonsei University · 医学
研究室紹介
Professor Soo-ah Choi's research lab specializes in molecular hepatology, focusing on the genetic and functional mechanisms underlying liver diseases, particularly progressive familial intrahepatic cholestasis type 3 (PFIC3). The lab investigates the structure-function relationships of the ABCB4 transporter (MDR3) and its disease-causing mutations, using in vitro molecular and biochemical assays to dissect pathogenic mechanisms. A central focus is on understanding how mutations in the ABCB4 gene disrupt phosphatidylcholine translocation, leading to cholestatic liver injury. The lab also contributes to the development of targeted therapeutic strategies for rare genetic liver disorders.
Research Overview
Research Output Trend
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Selected Papers
1Multidrug resistance 3 (MDR3), encoded by the ATP-binding cassette, subfamily B, member 4 gene (ABCB4), localizes to the canalicular membrane of hepatocytes and translocates phosphatidylcholine from the inner leaflet to the outer leaflet of the canalicular membrane. Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare hepatic disease caused by genetic mutations of ABCB4. In this study, we characterized 8 ABCB4 mutations found in PFIC3 patients, using in vitro molecular assays.