{"id":"https://openalex.org/W7225745865","doi":"https://doi.org/10.1186/s13023-026-04663-1","title":"Glycerol phenylbutyrate as an effective chemical chaperone for traffic-defective ABCB4 variants: comparative analysis with 4-phenylbutyrate","display_name":"Glycerol phenylbutyrate as an effective chemical chaperone for traffic-defective ABCB4 variants: comparative analysis with 4-phenylbutyrate","publication_year":2026,"publication_date":"2026-11-10","ids":{"openalex":"https://openalex.org/W7225745865","doi":"https://doi.org/10.1186/s13023-026-04663-1"},"language":"en","primary_location":{"id":"doi:10.1186/s13023-026-04663-1","doi":"https://doi.org/10.1186/s13023-026-04663-1","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-026-04663-1","pdf_url":null,"source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1186/s13023-026-04663-1","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5029101406","display_name":"Manon Banet","orcid":"https://orcid.org/0009-0004-3042-4776","observed_orcids":["https://orcid.org/0009-0004-3042-4776"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I277688954","display_name":"Universit\u00e9 Paris-Saclay","ror":"https://ror.org/03xjwb503","country_code":"FR","type":"education","lineage":["https://openalex.org/I277688954"]},{"id":"https://openalex.org/I4387154117","display_name":"Physiopathog\u00e9n\u00e8se et Traitement des Maladies du Foie","ror":"https://ror.org/01zrk7293","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I277688954","https://openalex.org/I4387154117"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Manon Banet","raw_affiliation_strings":["Universit\u00e9 Paris-Saclay, Inserm, Physiopathog\u00e9n\u00e8se et traitement des maladies du foie, UMR_S 1193, B\u00e2timent Henri Moissan \u2013 17, avenue des Sciences, Orsay, F-91400, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris-Saclay, Inserm, Physiopathog\u00e9n\u00e8se et traitement des maladies du foie, UMR_S 1193, B\u00e2timent Henri Moissan \u2013 17, avenue des Sciences, Orsay, F-91400, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I277688954","https://openalex.org/I4387154117"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054102496","display_name":"Yosra Riahi","orcid":"https://orcid.org/0009-0001-8210-166X","observed_orcids":["https://orcid.org/0009-0001-8210-166X"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I277688954","display_name":"Universit\u00e9 Paris-Saclay","ror":"https://ror.org/03xjwb503","country_code":"FR","type":"education","lineage":["https://openalex.org/I277688954"]},{"id":"https://openalex.org/I4387154117","display_name":"Physiopathog\u00e9n\u00e8se et Traitement des Maladies du Foie","ror":"https://ror.org/01zrk7293","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I277688954","https://openalex.org/I4387154117"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Yosra Riahi","raw_affiliation_strings":["Universit\u00e9 Paris-Saclay, Inserm, Physiopathog\u00e9n\u00e8se et traitement des maladies du foie, UMR_S 1193, B\u00e2timent Henri Moissan \u2013 17, avenue des Sciences, Orsay, F-91400, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris-Saclay, Inserm, Physiopathog\u00e9n\u00e8se et traitement des maladies du foie, UMR_S 1193, B\u00e2timent Henri Moissan \u2013 17, avenue des Sciences, Orsay, F-91400, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I277688954","https://openalex.org/I4387154117"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011058995","display_name":"Emmanuel M. Gonzales","orcid":"https://orcid.org/0000-0002-1546-3193","observed_orcids":["https://orcid.org/0000-0002-1546-3193"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I277688954","display_name":"Universit\u00e9 Paris-Saclay","ror":"https://ror.org/03xjwb503","country_code":"FR","type":"education","lineage":["https://openalex.org/I277688954"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210162942","display_name":"Bic\u00eatre Hospital","ror":"https://ror.org/05c9p1x46","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210162942","https://openalex.org/I4405259118"]},{"id":"https://openalex.org/I4387154117","display_name":"Physiopathog\u00e9n\u00e8se et Traitement des Maladies du Foie","ror":"https://ror.org/01zrk7293","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I277688954","https://openalex.org/I4387154117"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Emmanuel Gonzales","raw_affiliation_strings":["Universit\u00e9 Paris-Saclay, Facult\u00e9 de M\u00e9decine, AP-HP, Bic\u00eatre Hospital, Paediatric Hepatology & Paediatric Liver Transplant Department, Reference Center for Rare Paediatric Liver Diseases, FILFOIE, ERN RARE LIVER, Le Kremlin-Bic\u00eatre, F- 94270, France","Universit\u00e9 Paris-Saclay, Inserm, Physiopathog\u00e9n\u00e8se et traitement des maladies du foie, UMR_S 1193, B\u00e2timent Henri Moissan \u2013 17, avenue des Sciences, Orsay, F-91400, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris-Saclay, Facult\u00e9 de M\u00e9decine, AP-HP, Bic\u00eatre Hospital, Paediatric Hepatology & Paediatric Liver Transplant Department, Reference Center for Rare Paediatric Liver Diseases, FILFOIE, ERN RARE LIVER, Le Kremlin-Bic\u00eatre, F- 94270, France","institution_ids":["https://openalex.org/I277688954","https://openalex.org/I4210097159","https://openalex.org/I4210162942"]},{"raw_affiliation_string":"Universit\u00e9 Paris-Saclay, Inserm, Physiopathog\u00e9n\u00e8se et traitement des maladies du foie, UMR_S 1193, B\u00e2timent Henri Moissan \u2013 17, avenue des Sciences, Orsay, F-91400, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I277688954","https://openalex.org/I4387154117"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075625228","display_name":"Emmanuel Jacquemin","orcid":"https://orcid.org/0000-0002-7536-6272","observed_orcids":["https://orcid.org/0000-0002-7536-6272"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I277688954","display_name":"Universit\u00e9 Paris-Saclay","ror":"https://ror.org/03xjwb503","country_code":"FR","type":"education","lineage":["https://openalex.org/I277688954"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210162942","display_name":"Bic\u00eatre Hospital","ror":"https://ror.org/05c9p1x46","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210162942","https://openalex.org/I4405259118"]},{"id":"https://openalex.org/I4387154117","display_name":"Physiopathog\u00e9n\u00e8se et Traitement des Maladies du Foie","ror":"https://ror.org/01zrk7293","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I277688954","https://openalex.org/I4387154117"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Emmanuel Jacquemin","raw_affiliation_strings":["Universit\u00e9 Paris-Saclay, Facult\u00e9 de M\u00e9decine, AP-HP, Bic\u00eatre Hospital, Paediatric Hepatology & Paediatric Liver Transplant Department, Reference Center for Rare Paediatric Liver Diseases, FILFOIE, ERN RARE LIVER, Le Kremlin-Bic\u00eatre, F- 94270, France","Universit\u00e9 Paris-Saclay, Inserm, Physiopathog\u00e9n\u00e8se et traitement des maladies du foie, UMR_S 1193, B\u00e2timent Henri Moissan \u2013 17, avenue des Sciences, Orsay, F-91400, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris-Saclay, Facult\u00e9 de M\u00e9decine, AP-HP, Bic\u00eatre Hospital, Paediatric Hepatology & Paediatric Liver Transplant Department, Reference Center for Rare Paediatric Liver Diseases, FILFOIE, ERN RARE LIVER, Le Kremlin-Bic\u00eatre, F- 94270, France","institution_ids":["https://openalex.org/I277688954","https://openalex.org/I4210097159","https://openalex.org/I4210162942"]},{"raw_affiliation_string":"Universit\u00e9 Paris-Saclay, Inserm, Physiopathog\u00e9n\u00e8se et traitement des maladies du foie, UMR_S 1193, B\u00e2timent Henri Moissan \u2013 17, avenue des Sciences, Orsay, F-91400, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I277688954","https://openalex.org/I4387154117"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035554041","display_name":"Martine Lapalus","orcid":"https://orcid.org/0000-0002-7033-831X","observed_orcids":["https://orcid.org/0000-0002-7033-831X"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I277688954","display_name":"Universit\u00e9 Paris-Saclay","ror":"https://ror.org/03xjwb503","country_code":"FR","type":"education","lineage":["https://openalex.org/I277688954"]},{"id":"https://openalex.org/I4387154117","display_name":"Physiopathog\u00e9n\u00e8se et Traitement des Maladies du Foie","ror":"https://ror.org/01zrk7293","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I277688954","https://openalex.org/I4387154117"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Martine Lapalus","raw_affiliation_strings":["Universit\u00e9 Paris-Saclay, Inserm, Physiopathog\u00e9n\u00e8se et traitement des maladies du foie, UMR_S 1193, B\u00e2timent Henri Moissan \u2013 17, avenue des Sciences, Orsay, F-91400, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris-Saclay, Inserm, Physiopathog\u00e9n\u00e8se et traitement des maladies du foie, UMR_S 1193, B\u00e2timent Henri Moissan \u2013 17, avenue des Sciences, Orsay, F-91400, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I277688954","https://openalex.org/I4387154117"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5078313558","display_name":"Thomas Falgui\u00e8res","orcid":"https://orcid.org/0000-0003-2867-0500","observed_orcids":["https://orcid.org/0000-0003-2867-0500"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I277688954","display_name":"Universit\u00e9 Paris-Saclay","ror":"https://ror.org/03xjwb503","country_code":"FR","type":"education","lineage":["https://openalex.org/I277688954"]},{"id":"https://openalex.org/I4387154117","display_name":"Physiopathog\u00e9n\u00e8se et Traitement des Maladies du Foie","ror":"https://ror.org/01zrk7293","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I277688954","https://openalex.org/I4387154117"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Thomas Falgui\u00e8res","raw_affiliation_strings":["Universit\u00e9 Paris-Saclay, Inserm, Physiopathog\u00e9n\u00e8se et traitement des maladies du foie, UMR_S 1193, B\u00e2timent Henri Moissan \u2013 17, avenue des Sciences, Orsay, F-91400, France"],"raw_orcid":"https://orcid.org/0000-0003-2867-0500","affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris-Saclay, Inserm, Physiopathog\u00e9n\u00e8se et traitement des maladies du foie, UMR_S 1193, B\u00e2timent Henri Moissan \u2013 17, avenue des Sciences, Orsay, F-91400, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I277688954","https://openalex.org/I4387154117"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5078313558"],"corresponding_institution_ids":["https://openalex.org/I154526488","https://openalex.org/I277688954","https://openalex.org/I4387154117"],"apc_list":{"value":2990,"currency":"USD","value_usd":2990},"apc_paid":{"value":2990,"currency":"USD","value_usd":2990},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"21","issue":"1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10570","display_name":"Drug Transport and Resistance Mechanisms","score":0.9955999851226807,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10570","display_name":"Drug Transport and Resistance Mechanisms","score":0.9955999851226807,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12460","display_name":"Pediatric Hepatobiliary Diseases and Treatments","score":0.0020000000949949026,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11618","display_name":"Cholesterol and Lipid Metabolism","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[],"concepts":[{"id":"https://openalex.org/C2909310144","wikidata":"https://www.wikidata.org/wiki/Q7553358","display_name":"Phenylbutyrate","level":2,"score":0.8406999707221985},{"id":"https://openalex.org/C61397870","wikidata":"https://www.wikidata.org/wiki/Q1069458","display_name":"Chemical chaperone","level":4,"score":0.5995000004768372},{"id":"https://openalex.org/C2778593092","wikidata":"https://www.wikidata.org/wiki/Q1075923","display_name":"Cholestasis","level":2,"score":0.5548999905586243},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.5149999856948853},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.46860000491142273},{"id":"https://openalex.org/C2776330855","wikidata":"https://www.wikidata.org/wiki/Q650187","display_name":"Phosphatidylcholine","level":4,"score":0.4616999924182892},{"id":"https://openalex.org/C207001950","wikidata":"https://www.wikidata.org/wiki/Q141124","display_name":"In vivo","level":2,"score":0.39660000801086426},{"id":"https://openalex.org/C158617107","wikidata":"https://www.wikidata.org/wiki/Q79927","display_name":"Endoplasmic reticulum","level":2,"score":0.3578000068664551},{"id":"https://openalex.org/C58017582","wikidata":"https://www.wikidata.org/wiki/Q6556376","display_name":"Lipidomics","level":2,"score":0.35040000081062317},{"id":"https://openalex.org/C2778918659","wikidata":"https://www.wikidata.org/wiki/Q186915","display_name":"Phospholipid","level":3,"score":0.3409000039100647},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3310000002384186},{"id":"https://openalex.org/C202751555","wikidata":"https://www.wikidata.org/wiki/Q221681","display_name":"In vitro","level":2,"score":0.31610000133514404},{"id":"https://openalex.org/C2778855143","wikidata":"https://www.wikidata.org/wiki/Q4116129","display_name":"Tributyrin","level":4,"score":0.3133000135421753},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.30790001153945923},{"id":"https://openalex.org/C149011108","wikidata":"https://www.wikidata.org/wiki/Q652985","display_name":"Transporter","level":3,"score":0.2989000082015991},{"id":"https://openalex.org/C2775905019","wikidata":"https://www.wikidata.org/wiki/Q192572","display_name":"In silico","level":3,"score":0.2912999987602234},{"id":"https://openalex.org/C2780881558","wikidata":"https://www.wikidata.org/wiki/Q132501","display_name":"Glycerol","level":2,"score":0.2727000117301941},{"id":"https://openalex.org/C49039625","wikidata":"https://www.wikidata.org/wiki/Q84230","display_name":"Secretion","level":2,"score":0.257999986410141},{"id":"https://openalex.org/C2779478299","wikidata":"https://www.wikidata.org/wiki/Q2335423","display_name":"Steatohepatitis","level":4,"score":0.25699999928474426},{"id":"https://openalex.org/C98274493","wikidata":"https://www.wikidata.org/wiki/Q128406","display_name":"Pharmacology","level":1,"score":0.25609999895095825},{"id":"https://openalex.org/C2780965833","wikidata":"https://www.wikidata.org/wiki/Q241374","display_name":"Ursodeoxycholic acid","level":2,"score":0.2515000104904175}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1186/s13023-026-04663-1","doi":"https://doi.org/10.1186/s13023-026-04663-1","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-026-04663-1","pdf_url":null,"source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1186/s13023-026-04663-1","doi":"https://doi.org/10.1186/s13023-026-04663-1","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-026-04663-1","pdf_url":null,"source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":22,"referenced_works":["https://openalex.org/W1599065434","https://openalex.org/W1964509264","https://openalex.org/W1975541219","https://openalex.org/W1981218471","https://openalex.org/W2011533034","https://openalex.org/W2019513013","https://openalex.org/W2072873237","https://openalex.org/W2099049651","https://openalex.org/W2129980101","https://openalex.org/W2157668086","https://openalex.org/W2274922606","https://openalex.org/W2496766869","https://openalex.org/W2546638835","https://openalex.org/W3012932359","https://openalex.org/W3098520476","https://openalex.org/W3134322678","https://openalex.org/W4284696619","https://openalex.org/W4296281265","https://openalex.org/W4384023517","https://openalex.org/W4400949655","https://openalex.org/W4409817683","https://openalex.org/W4410858591"],"related_works":[],"abstract_inverted_index":{"Abstract":[0],"The":[1],"ABCB4":[2,25,106,124],"transporter":[3],"is":[4,66],"localised":[5],"at":[6],"the":[7,15,24,37,81,90,114,151,161,165],"canalicular":[8],"membrane":[9],"of":[10,17,34,83,93,116,145,160,164],"hepatocytes,":[11],"where":[12],"it":[13],"mediates":[14],"secretion":[16],"phosphatidylcholine":[18],"into":[19],"bile.":[20],"Genetic":[21],"variations":[22],"in":[23,99,102,126],"gene":[26],"are":[27,107],"responsible":[28],"for":[29],"rare":[30],"cholestatic":[31],"liver":[32,60],"diseases":[33],"varying":[35],"severity,":[36],"most":[38,53],"severe":[39],"form":[40],"being":[41],"progressive":[42],"familial":[43],"intrahepatic":[44],"cholestasis":[45],"type":[46],"3.":[47],"Existing":[48],"treatments":[49],"do":[50],"not":[51],"cure":[52],"patients":[54,94],"with":[55,95],"this":[56,110],"disease,":[57],"who":[58],"require":[59],"transplantation":[61],"before":[62],"adulthood.":[63],"Consequently,":[64],"there":[65],"a":[67,141,157],"need":[68],"to":[69,121],"develop":[70],"alternative":[71],"pharmacological":[72],"therapies.":[73],"4-phenylbutyrate":[74],"and":[75,101,135],"glycerol":[76,146],"phenylbutyrate":[77,147],"can":[78],"partially":[79],"correct":[80],"mistrafficking":[82],"endoplasmic":[84],"reticulum-retained":[85],"ABCB11":[86,96],"variants,":[87],"thereby":[88],"improving":[89],"clinical":[91],"condition":[92],"deficiency,":[97],"but":[98],"vitro":[100,127],"vivo":[103],"data":[104],"on":[105,132],"limited.":[108],"In":[109],"study,":[111],"we":[112],"tested":[113],"ability":[115],"these":[117],"two":[118,166],"chemical":[119],"chaperones":[120],"rescue":[122],"traffic-defective":[123],"variants":[125],"by":[128],"assessing":[129],"their":[130],"effects":[131],"subcellular":[133],"localisation":[134],"phospholipid":[136],"efflux":[137],"capability,":[138],"which":[139],"revealed":[140],"greater":[142],"rescuing":[143],"capacity":[144],"over":[148],"4-phenylbutyrate.":[149],"However,":[150],"non-equimolar":[152],"doses":[153],"used":[154],"here":[155],"preclude":[156],"direct":[158],"comparison":[159],"relative":[162],"efficacy":[163],"molecules.":[167]},"counts_by_year":[],"updated_date":"2026-11-11T12:16:26.678958","created_date":"2026-11-11T00:00:00"}
