Research map: Contrasting Impacts of Two ABCB11 Variants Affecting the Same Residue in Progressive Familial Intrahepatic Cholestasis Type 2

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  22. 4-phenylbutyrate enhances the cell surface expression and the transport capacity of wild-type and mutated bile salt export pumps · Hisamitsu Hayashi · 2007 · 172 citations · Cited by this paper
  23. Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing # · Jane A. Byrne · 2008 · 171 citations · Cited by this paper
  24. Genotype correlates with the natural history of severe bile salt export pump deficiency · Daan B.E. van Wessel · 2020 · 141 citations · Cited by this paper
  25. Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4‐phenylbutyrate · Emmanuel M. Gonzales · 2015 · 116 citations · Cited by this paper
  26. Vanzacaftor–tezacaftor–deutivacaftor versus elexacaftor–tezacaftor–ivacaftor in individuals with cystic fibrosis aged 12 years and older (SKYLINE Trials VX20-121-102 and VX20-121-103): results from two randomised, active-controlled, phase 3 trials · Claire L. Keating · 2025 · 115 citations · Cited by this paper
  27. Biosynthesis and trafficking of the bile salt export pump, BSEP: Therapeutic implications of BSEP mutations · Carol J. Soroka · 2013 · 100 citations · Cited by this paper
  28. Degradation of the bile salt export pump at endoplasmic reticulum in progressive familial intrahepatic cholestasis type II · Lin Wang · 2008 · 85 citations · Cited by this paper
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  31. Improved Liver Function and Relieved Pruritus after 4-Phenylbutyrate Therapy in a Patient with Progressive Familial Intrahepatic Cholestasis Type 2 · Sotaro Naoi · 2014 · 77 citations · Cited by this paper
  32. A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature # · Jean Delaunay · 2008 · 69 citations · Cited by this paper
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  34. Vectorial transport of bile salts across MDCK cells expressing both rat Na + -taurocholate cotransporting polypeptide and rat bile salt export pump · Sachiko Mita · 2004 · 61 citations · Cited by this paper
  35. Recent updates on progressive familial intrahepatic cholestasis types 1, 2 and 3: Outcome and therapeutic strategies · Seema Alam · 2022 · 51 citations · Cited by this paper
  36. Targeted pharmacotherapies for defective ABC transporters · Virginie Vauthier · 2017 · 46 citations · Cited by this paper
  37. Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency · Elodie Mareux · 2020 · 42 citations · Cited by this paper
  38. The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies · Muhammad Imran Sohail · 2021 · 38 citations · Cited by this paper
  39. Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis type 2 · Sharat Varma · 2015 · 37 citations · Cited by this paper

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