The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies

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dc.authoridStockner, Thomas/0000-0002-7071-8283en_US
dc.authoridSohail, Muhammad Imran/0000-0002-7750-1511en_US
dc.authoridDönmez Çakıl, Yaprak/0000-0002-4605-1167en_US
dc.contributor.authorSohail, Muhammad Imran
dc.contributor.authorDönmez-Çakıl, Yaprak
dc.contributor.authorSzoellosi, Daniel
dc.contributor.authorStockner, Thomas
dc.contributor.authorChiba, Peter
dc.date.accessioned2024-07-12T21:40:53Z
dc.date.available2024-07-12T21:40:53Z
dc.date.issued2021en_US
dc.department[Belirlenecek]en_US
dc.description.abstractThe bile salt export pump (BSEP/ABCB11) is responsible for the transport of bile salts from hepatocytes into bile canaliculi. Malfunction of this transporter results in progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent intrahepatic cholestasis type 2 (BRIC2) and intrahepatic cholestasis of pregnancy (ICP). Over the past few years, several small molecular weight compounds have been identified, which hold the potential to treat these genetic diseases (chaperones and potentiators). As the treatment response is mutation-specific, genetic analysis of the patients and their families is required. Furthermore, some of the mutations are refractory to therapy, with the only remaining treatment option being liver transplantation. In this review, we will focus on the molecular structure of ABCB11, reported mutations involved in cholestasis and current treatment options for inherited BSEP deficiencies.en_US
dc.description.sponsorshipAustrian Science Fund (FWF) [SFB3509, SFB3524, P32017]; Austrian Science Fund (FWF) [P32017] Funding Source: Austrian Science Fund (FWF)en_US
dc.description.sponsorshipOpen Access Funding by the Austrian Science Fund (FWF), grant numbers SFB3509 (to P.C.), SFB3524 (to T.S.) and (P32017 to T.S.).en_US
dc.identifier.doi10.3390/ijms22020784
dc.identifier.issn1422-0067
dc.identifier.issue2en_US
dc.identifier.pmid33466755en_US
dc.identifier.scopus2-s2.0-85099353903en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.3390/ijms22020784
dc.identifier.urihttps://hdl.handle.net/20.500.12415/7535
dc.identifier.volume22en_US
dc.identifier.wosWOS:000611320500001en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherMdpien_US
dc.relation.ispartofInternational Journal of Molecular Sciencesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmzKY09370
dc.subjectBsepen_US
dc.subjectAbcb11en_US
dc.subjectBile Saltsen_US
dc.subjectIntrahepatic Cholestasisen_US
dc.subjectChaperonesen_US
dc.subjectPfic2en_US
dc.subjectBricen_US
dc.titleThe Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficienciesen_US
dc.typeReview Article
dspace.entity.typePublication

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