Contrasting impacts of two ABCB11 variants affecting the same residue in progressive familial intrahepatic cholestasis type 2.

doi:10.1152/ajpgi.00055.2026

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Article

Contrasting impacts of two ABCB11 variants affecting the same residue in progressive familial intrahepatic cholestasis type 2.

American journal of physiology. Gastrointestinal and liver physiology - 1 Sept 2026

Riahi Yosra, Almes Marion, Banet Manon, Mareux Elodie, Garcin Isabelle, Davit-Spraul Anne, Si-Bouazza Redouane, Fabrega Sylvie, Boucherle Benjamin, Decout Jean-Luc, Falguières Thomas, Callebaut Isabelle, Jacquemin Emmanuel, Gonzales Emmanuel, Lapalus Martine

Abstract excerpt

Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a severe autosomal recessive cholestatic liver disease due to variations in ATP-binding cassette subfamily B member 11 (ABCB11) gene. The clinical and molecular consequences of two missense variations affecting the same ABCB11 residue (T463) were characterized, and pharmacological strategies were investigated. Clinical and genetic data were collected...

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PMID: 42552878
DOI: 10.1152/ajpgi.00055.2026

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ABCB11

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