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In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy
ABCB11 variations are responsible for a spectrum of rare liver diseases, including progressive familial intrahepatic cholestasis type 2 (PFIC2) and intrahepatic cholestasis of pregnancy (ICP). Current medical treatment of these conditions mostly relies on ursodeoxycholic acid with limited efficacy....
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Published in: | Orphanet journal of rare diseases 2021-11, Vol.16 (1), p.484-484, Article 484 |
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creator | Mareux, Elodie Lapalus, Martine Ben-Saad, Amel Callebaut, Isabelle Falguières, Thomas Gonzales, Emmanuel Jacquemin, Emmanuel |
description | ABCB11 variations are responsible for a spectrum of rare liver diseases, including progressive familial intrahepatic cholestasis type 2 (PFIC2) and intrahepatic cholestasis of pregnancy (ICP). Current medical treatment of these conditions mostly relies on ursodeoxycholic acid with limited efficacy. We report on the in vitro study of the p.A257V missense variant of ABCB11 identified in a PFIC2 patient and in her mother who experienced ICP.
The Ala257 residue is located outside the ATP-binding site of ABCB11. We show that the p.A257V variant of ABCB11 is correctly expressed at the canalicular membrane of HepG2 cells but that its function significantly decreased when studied in MDCK cells. This functional defect can be fully rescued by Ivacaftor.
Ivacaftor could be considered as a new pharmacological tool able to respond to an unmet medical need for patients with ICP and PFIC2 due to ABCB11 variations affecting ABCB11 function, even when the residue involved is not located in an ATP-binding site of ABCB11. |
doi_str_mv | 10.1186/s13023-021-02125-4 |
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The Ala257 residue is located outside the ATP-binding site of ABCB11. We show that the p.A257V variant of ABCB11 is correctly expressed at the canalicular membrane of HepG2 cells but that its function significantly decreased when studied in MDCK cells. This functional defect can be fully rescued by Ivacaftor.
Ivacaftor could be considered as a new pharmacological tool able to respond to an unmet medical need for patients with ICP and PFIC2 due to ABCB11 variations affecting ABCB11 function, even when the residue involved is not located in an ATP-binding site of ABCB11.</description><identifier>ISSN: 1750-1172</identifier><identifier>EISSN: 1750-1172</identifier><identifier>DOI: 10.1186/s13023-021-02125-4</identifier><identifier>PMID: 34794484</identifier><language>eng</language><publisher>England: BioMed Central Ltd</publisher><subject>ABC transporters superfamily ; Aminophenols - therapeutic use ; ATP Binding Cassette Transporter, Subfamily B, Member 11 ; ATP-Binding Cassette Transporters - genetics ; Bile ; Binding sites ; BSEP ; Carrier proteins ; Cholestasis ; Cholestasis, Intrahepatic - drug therapy ; Cholestasis, Intrahepatic - genetics ; Cystic fibrosis ; Drug therapy ; Female ; Gallbladder diseases ; Genetic aspects ; Genetic variation ; Glycoproteins ; Health aspects ; Hepatology ; Human health and pathology ; Humans ; Ivacaftor ; Jaundice, Obstructive ; Letter to the Editor ; Life Sciences ; Liver diseases ; Medical research ; Medical treatment ; Medicine, Experimental ; Mutation ; Paediatrics ; Patients ; Potentiator ; Pregnancy ; Pregnancy Complications ; Pregnancy, Complications of ; Quinolones ; Rare diseases ; Salt ; Ursodeoxycholic acid ; VX-770 ; Womens health</subject><ispartof>Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.484-484, Article 484</ispartof><rights>2021. The Author(s).</rights><rights>COPYRIGHT 2021 BioMed Central Ltd.</rights><rights>2021. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><rights>The Author(s) 2021</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c631t-2b7ca8e433502c643cbe58fbd7c620edb0ad53cd26bc71aa74e1959a7da4ce253</citedby><cites>FETCH-LOGICAL-c631t-2b7ca8e433502c643cbe58fbd7c620edb0ad53cd26bc71aa74e1959a7da4ce253</cites><orcidid>0000-0002-7536-6272 ; 0000-0002-7033-831X ; 0000-0003-2867-0500 ; 0000-0002-1546-3193</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8600881/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2599128937?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,25753,27924,27925,37012,37013,44590,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34794484$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.sorbonne-universite.fr/hal-03449278$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Mareux, Elodie</creatorcontrib><creatorcontrib>Lapalus, Martine</creatorcontrib><creatorcontrib>Ben-Saad, Amel</creatorcontrib><creatorcontrib>Callebaut, Isabelle</creatorcontrib><creatorcontrib>Falguières, Thomas</creatorcontrib><creatorcontrib>Gonzales, Emmanuel</creatorcontrib><creatorcontrib>Jacquemin, Emmanuel</creatorcontrib><title>In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy</title><title>Orphanet journal of rare diseases</title><addtitle>Orphanet J Rare Dis</addtitle><description>ABCB11 variations are responsible for a spectrum of rare liver diseases, including progressive familial intrahepatic cholestasis type 2 (PFIC2) and intrahepatic cholestasis of pregnancy (ICP). Current medical treatment of these conditions mostly relies on ursodeoxycholic acid with limited efficacy. We report on the in vitro study of the p.A257V missense variant of ABCB11 identified in a PFIC2 patient and in her mother who experienced ICP.
The Ala257 residue is located outside the ATP-binding site of ABCB11. We show that the p.A257V variant of ABCB11 is correctly expressed at the canalicular membrane of HepG2 cells but that its function significantly decreased when studied in MDCK cells. This functional defect can be fully rescued by Ivacaftor.
Ivacaftor could be considered as a new pharmacological tool able to respond to an unmet medical need for patients with ICP and PFIC2 due to ABCB11 variations affecting ABCB11 function, even when the residue involved is not located in an ATP-binding site of ABCB11.</description><subject>ABC transporters superfamily</subject><subject>Aminophenols - therapeutic use</subject><subject>ATP Binding Cassette Transporter, Subfamily B, Member 11</subject><subject>ATP-Binding Cassette Transporters - genetics</subject><subject>Bile</subject><subject>Binding sites</subject><subject>BSEP</subject><subject>Carrier proteins</subject><subject>Cholestasis</subject><subject>Cholestasis, Intrahepatic - drug therapy</subject><subject>Cholestasis, Intrahepatic - genetics</subject><subject>Cystic fibrosis</subject><subject>Drug therapy</subject><subject>Female</subject><subject>Gallbladder diseases</subject><subject>Genetic aspects</subject><subject>Genetic variation</subject><subject>Glycoproteins</subject><subject>Health aspects</subject><subject>Hepatology</subject><subject>Human health and pathology</subject><subject>Humans</subject><subject>Ivacaftor</subject><subject>Jaundice, Obstructive</subject><subject>Letter to the Editor</subject><subject>Life Sciences</subject><subject>Liver diseases</subject><subject>Medical research</subject><subject>Medical treatment</subject><subject>Medicine, Experimental</subject><subject>Mutation</subject><subject>Paediatrics</subject><subject>Patients</subject><subject>Potentiator</subject><subject>Pregnancy</subject><subject>Pregnancy Complications</subject><subject>Pregnancy, Complications of</subject><subject>Quinolones</subject><subject>Rare diseases</subject><subject>Salt</subject><subject>Ursodeoxycholic acid</subject><subject>VX-770</subject><subject>Womens health</subject><issn>1750-1172</issn><issn>1750-1172</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNptkl1v0zAUhiMEYmPwB7hAlrhhFxn-TJwbpK5irFIlEB_X1onjtK5Su9hJtP57nLWMdUKRFfvkOa_tN2-WvSX4ihBZfIyEYcpyTMk0qMj5s-yclALnhJT0-aP5WfYqxg3GXDAsX2ZnjJcV55KfZ3cLh0bbB4_aweneegcdCibqwaB6j-wIGtreB-RbBA7NrufXhKARggXXI-tG342mSRP07WYxp4mZFn2AtdlBbzXSa9-Z2EO0cdLYBbNy4PT-dfaihS6aN8f3Rfbr5vPP-W2-_PplMZ8tc10w0ue0LjVIwxkTmOqCM10bIdu6KXVBsWlqDI1guqFFrUsCUHJDKlFB2QDXhgp2kS0Ouo2HjdoFu4WwVx6sui_4sFIQ0kE7oyil3FSGUCoZJ7SV0AIXQqYy1MmwpPXpoLUb6q1ptJku2p2Inn5xdq1WflSywFhKkgQuDwLrJ223s6WaaphxXtFSjhP74bhZ8L-HZKHa2qhN14EzfoiKiqoikjIuE_r-CbrxQ0h_8khRWbHyH7WCdFnrWp_OqCdRNStkwUsqyOTX1X-o9DRma7V3prWpftJwedKQmN7c9SsYYlSLH99PWXpgdfAxBtM-mECwmjKtDplWKc_qPtNqcv3dY9cfWv6GmP0BnLDuog</recordid><startdate>20211118</startdate><enddate>20211118</enddate><creator>Mareux, Elodie</creator><creator>Lapalus, Martine</creator><creator>Ben-Saad, Amel</creator><creator>Callebaut, Isabelle</creator><creator>Falguières, Thomas</creator><creator>Gonzales, Emmanuel</creator><creator>Jacquemin, Emmanuel</creator><general>BioMed Central Ltd</general><general>BioMed Central</general><general>BMC</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>ISR</scope><scope>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>1XC</scope><scope>VOOES</scope><scope>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0002-7536-6272</orcidid><orcidid>https://orcid.org/0000-0002-7033-831X</orcidid><orcidid>https://orcid.org/0000-0003-2867-0500</orcidid><orcidid>https://orcid.org/0000-0002-1546-3193</orcidid></search><sort><creationdate>20211118</creationdate><title>In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy</title><author>Mareux, Elodie ; Lapalus, Martine ; Ben-Saad, Amel ; Callebaut, Isabelle ; Falguières, Thomas ; Gonzales, Emmanuel ; Jacquemin, Emmanuel</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c631t-2b7ca8e433502c643cbe58fbd7c620edb0ad53cd26bc71aa74e1959a7da4ce253</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>ABC transporters superfamily</topic><topic>Aminophenols - therapeutic use</topic><topic>ATP Binding Cassette Transporter, Subfamily B, Member 11</topic><topic>ATP-Binding Cassette Transporters - genetics</topic><topic>Bile</topic><topic>Binding sites</topic><topic>BSEP</topic><topic>Carrier proteins</topic><topic>Cholestasis</topic><topic>Cholestasis, Intrahepatic - drug therapy</topic><topic>Cholestasis, Intrahepatic - genetics</topic><topic>Cystic fibrosis</topic><topic>Drug therapy</topic><topic>Female</topic><topic>Gallbladder diseases</topic><topic>Genetic aspects</topic><topic>Genetic variation</topic><topic>Glycoproteins</topic><topic>Health aspects</topic><topic>Hepatology</topic><topic>Human health and pathology</topic><topic>Humans</topic><topic>Ivacaftor</topic><topic>Jaundice, Obstructive</topic><topic>Letter to the Editor</topic><topic>Life Sciences</topic><topic>Liver diseases</topic><topic>Medical research</topic><topic>Medical treatment</topic><topic>Medicine, Experimental</topic><topic>Mutation</topic><topic>Paediatrics</topic><topic>Patients</topic><topic>Potentiator</topic><topic>Pregnancy</topic><topic>Pregnancy Complications</topic><topic>Pregnancy, Complications of</topic><topic>Quinolones</topic><topic>Rare diseases</topic><topic>Salt</topic><topic>Ursodeoxycholic acid</topic><topic>VX-770</topic><topic>Womens health</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mareux, Elodie</creatorcontrib><creatorcontrib>Lapalus, Martine</creatorcontrib><creatorcontrib>Ben-Saad, Amel</creatorcontrib><creatorcontrib>Callebaut, Isabelle</creatorcontrib><creatorcontrib>Falguières, Thomas</creatorcontrib><creatorcontrib>Gonzales, Emmanuel</creatorcontrib><creatorcontrib>Jacquemin, Emmanuel</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>ProQuest_Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>British Nursing Database</collection><collection>ProQuest Central Essentials</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>Publicly Available Content (ProQuest)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><collection>Hyper Article en Ligne (HAL) (Open Access)</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>Orphanet journal of rare diseases</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mareux, Elodie</au><au>Lapalus, Martine</au><au>Ben-Saad, Amel</au><au>Callebaut, Isabelle</au><au>Falguières, Thomas</au><au>Gonzales, Emmanuel</au><au>Jacquemin, Emmanuel</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy</atitle><jtitle>Orphanet journal of rare diseases</jtitle><addtitle>Orphanet J Rare Dis</addtitle><date>2021-11-18</date><risdate>2021</risdate><volume>16</volume><issue>1</issue><spage>484</spage><epage>484</epage><pages>484-484</pages><artnum>484</artnum><issn>1750-1172</issn><eissn>1750-1172</eissn><abstract>ABCB11 variations are responsible for a spectrum of rare liver diseases, including progressive familial intrahepatic cholestasis type 2 (PFIC2) and intrahepatic cholestasis of pregnancy (ICP). Current medical treatment of these conditions mostly relies on ursodeoxycholic acid with limited efficacy. We report on the in vitro study of the p.A257V missense variant of ABCB11 identified in a PFIC2 patient and in her mother who experienced ICP.
The Ala257 residue is located outside the ATP-binding site of ABCB11. We show that the p.A257V variant of ABCB11 is correctly expressed at the canalicular membrane of HepG2 cells but that its function significantly decreased when studied in MDCK cells. This functional defect can be fully rescued by Ivacaftor.
Ivacaftor could be considered as a new pharmacological tool able to respond to an unmet medical need for patients with ICP and PFIC2 due to ABCB11 variations affecting ABCB11 function, even when the residue involved is not located in an ATP-binding site of ABCB11.</abstract><cop>England</cop><pub>BioMed Central Ltd</pub><pmid>34794484</pmid><doi>10.1186/s13023-021-02125-4</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0002-7536-6272</orcidid><orcidid>https://orcid.org/0000-0002-7033-831X</orcidid><orcidid>https://orcid.org/0000-0003-2867-0500</orcidid><orcidid>https://orcid.org/0000-0002-1546-3193</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | ABC transporters superfamily Aminophenols - therapeutic use ATP Binding Cassette Transporter, Subfamily B, Member 11 ATP-Binding Cassette Transporters - genetics Bile Binding sites BSEP Carrier proteins Cholestasis Cholestasis, Intrahepatic - drug therapy Cholestasis, Intrahepatic - genetics Cystic fibrosis Drug therapy Female Gallbladder diseases Genetic aspects Genetic variation Glycoproteins Health aspects Hepatology Human health and pathology Humans Ivacaftor Jaundice, Obstructive Letter to the Editor Life Sciences Liver diseases Medical research Medical treatment Medicine, Experimental Mutation Paediatrics Patients Potentiator Pregnancy Pregnancy Complications Pregnancy, Complications of Quinolones Rare diseases Salt Ursodeoxycholic acid VX-770 Womens health |
title | In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy |
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