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Updated: May 15, 2025

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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在PFIC2胆固醇性疾病中用于BSEP功能障碍的结构和机制模型

Clémence Gruget1, Bharat G Reddy2, Jonathan M Moore3,4

  • 1Massachusetts Institute of Technology, Cambridge, MA, USA.

Communications biology
|April 8, 2025
PubMed
概括

胆汁盐输出 (BSEP) 中的突变会导致渐进性家族性肝内胆固醇症2型 (PFIC2). 生物物理研究揭示了这些突变如何破坏BSEP的稳定性,影响胆盐运输并导致肝脏疾病.

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