An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant

An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant

Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare pediatric cholestatic liver disease caused by genetic deficiency in the bile salt export pump (BSEP, ABCB11). BSEP is an ATP-binding cassette transporter and the primary regulator of hepatic bile acid efflux. Loss of BSEP functio...

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Ngā kaituhi matua: Eric L. Bell, Jennifer K. Truong, Youhwa Jo, Adrianne Kolpak, Lauren Chunn, Natalie Syverud, Melida Mahinic, Jessica R. Durrant, Eitan Hoch, Bharat Reddy, Patrick Stoiber, John P. Miller, Yong Ren, Jonathan Moore, Robert O. Hughes, Alastair S. Garfield
Hōputu: Tuhinga
Reo:Ingarihi
I whakaputaina: Elsevier 2025-07-01
Rangatū:Journal of Lipid Research
Ngā marau:
PFIC2
Abcb11
BSEP
cholestasis
bile acid
missense
Urunga tuihono:http://www.sciencedirect.com/science/article/pii/S0022227525001002
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http://www.sciencedirect.com/science/article/pii/S0022227525001002

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