{"id":"https://openalex.org/W2335525544","doi":"https://doi.org/10.1371/journal.pone.0152007","title":"Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease","display_name":"Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease","publication_year":2016,"publication_date":"2016-03-28","ids":{"openalex":"https://openalex.org/W2335525544","doi":"https://doi.org/10.1371/journal.pone.0152007","mag":"2335525544","pmid":"https://pubmed.ncbi.nlm.nih.gov/27019000","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4809520"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pone.0152007","doi":"https://doi.org/10.1371/journal.pone.0152007","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0152007","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0152007&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"public-domain","license_id":"https://openalex.org/licenses/public-domain","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS ONE","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0152007&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5015186864","display_name":"Elena\u2010Raluca Nicoli","orcid":"https://orcid.org/0000-0002-5545-630X","observed_orcids":["https://orcid.org/0000-0002-5545-630X"]},"institutions":[{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Elena-Raluca Nicoli","raw_affiliation_strings":["Department of Pharmacology, University of Oxford, Oxford, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology, University of Oxford, Oxford, United Kingdom","institution_ids":["https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074058189","display_name":"Nada Al Eisa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Nada Al Eisa","raw_affiliation_strings":["Department of Pharmacology, University of Oxford, Oxford, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology, University of Oxford, Oxford, United Kingdom","institution_ids":["https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003445913","display_name":"Celine V. M. Cluzeau","orcid":"https://orcid.org/0000-0002-7791-6223","observed_orcids":["https://orcid.org/0000-0002-7791-6223"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210144228","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Celine V. M. Cluzeau","raw_affiliation_strings":["Section of Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Section of Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074217980","display_name":"Christopher A. Wassif","orcid":"https://orcid.org/0000-0002-2524-1420","observed_orcids":["https://orcid.org/0000-0002-2524-1420"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]},{"id":"https://openalex.org/I4210144228","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Christopher A. Wassif","raw_affiliation_strings":["Department of Pharmacology, University of Oxford, Oxford, United Kingdom","Section of Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology, University of Oxford, Oxford, United Kingdom","institution_ids":["https://openalex.org/I40120149"]},{"raw_affiliation_string":"Section of Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]},{"author_position":"middle","author":{"id":null,"display_name":"James Gray","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"James Gray","raw_affiliation_strings":["Department of Pharmacology, University of Oxford, Oxford, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology, University of Oxford, Oxford, United Kingdom","institution_ids":["https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075499530","display_name":"Kathryn R. Burkert","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210144228","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kathryn R. Burkert","raw_affiliation_strings":["Section of Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Section of Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069768586","display_name":"David Aitchison Smith","orcid":"https://orcid.org/0000-0002-9845-5913","observed_orcids":["https://orcid.org/0000-0002-9845-5913"]},"institutions":[{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"David A. Smith","raw_affiliation_strings":["Department of Pharmacology, University of Oxford, Oxford, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology, University of Oxford, Oxford, United Kingdom","institution_ids":["https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103729028","display_name":"Lauren Morris","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Lauren Morris","raw_affiliation_strings":["Department of Pharmacology, University of Oxford, Oxford, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology, University of Oxford, Oxford, United Kingdom","institution_ids":["https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082245282","display_name":"Stephanie M. Cologna","orcid":"https://orcid.org/0000-0002-3541-3361","observed_orcids":["https://orcid.org/0000-0002-3541-3361"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210144228","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Stephanie M. Cologna","raw_affiliation_strings":["Section of Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Section of Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021815921","display_name":"Cody J. Peer","orcid":"https://orcid.org/0000-0001-9395-3473","observed_orcids":["https://orcid.org/0000-0001-9395-3473"]},"institutions":[{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cody J. Peer","raw_affiliation_strings":["Clinical Pharmacology Program, Medical Oncology Branch, National Cancer Institute, Department of Health and Human Services, Bethesda, Maryland, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Pharmacology Program, Medical Oncology Branch, National Cancer Institute, Department of Health and Human Services, Bethesda, Maryland, United States of America","institution_ids":["https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045610944","display_name":"Tristan M. Sissung","orcid":"https://orcid.org/0000-0002-3684-5377","observed_orcids":["https://orcid.org/0000-0002-3684-5377"]},"institutions":[{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tristan M. Sissung","raw_affiliation_strings":["Clinical Pharmacology Program, Medical Oncology Branch, National Cancer Institute, Department of Health and Human Services, Bethesda, Maryland, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Pharmacology Program, Medical Oncology Branch, National Cancer Institute, Department of Health and Human Services, Bethesda, Maryland, United States of America","institution_ids":["https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112485554","display_name":"Constantin Daniel Uscatu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I28109999","display_name":"University of Medicine and Pharmacy of Craiova","ror":"https://ror.org/031d5vw30","country_code":"RO","type":"education","lineage":["https://openalex.org/I28109999"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB","RO"],"is_corresponding":false,"raw_author_name":"Constantin-Daniel Uscatu","raw_affiliation_strings":["Department of Cellular and Molecular Biology, University of Medicine and Pharmacy of Craiova, Craiova, Romania","Department of Pharmacology, University of Oxford, Oxford, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cellular and Molecular Biology, University of Medicine and Pharmacy of Craiova, Craiova, Romania","institution_ids":["https://openalex.org/I28109999"]},{"raw_affiliation_string":"Department of Pharmacology, University of Oxford, Oxford, United Kingdom","institution_ids":["https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079418869","display_name":"William Douglas Figg","orcid":"https://orcid.org/0000-0003-2428-5613","observed_orcids":["https://orcid.org/0000-0003-2428-5613"]},"institutions":[{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"William D. Figg","raw_affiliation_strings":["Clinical Pharmacology Program, Medical Oncology Branch, National Cancer Institute, Department of Health and Human Services, Bethesda, Maryland, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Pharmacology Program, Medical Oncology Branch, National Cancer Institute, Department of Health and Human Services, Bethesda, Maryland, United States of America","institution_ids":["https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002726308","display_name":"William J. Pavan","orcid":"https://orcid.org/0000-0001-8281-5120","observed_orcids":["https://orcid.org/0000-0001-8281-5120"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"William J. Pavan","raw_affiliation_strings":["Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005112800","display_name":"Charles H. Vite","orcid":"https://orcid.org/0000-0001-6625-5266","observed_orcids":["https://orcid.org/0000-0001-6625-5266"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Charles H. Vite","raw_affiliation_strings":["School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043346952","display_name":"Forbes D. Porter","orcid":"https://orcid.org/0000-0001-9397-0046","observed_orcids":["https://orcid.org/0000-0001-9397-0046"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210144228","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Forbes D. Porter","raw_affiliation_strings":["Section of Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Section of Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5078895245","display_name":"Frances M. Platt","orcid":"https://orcid.org/0000-0001-7614-0403","observed_orcids":["https://orcid.org/0000-0001-7614-0403"]},"institutions":[{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Frances M. Platt","raw_affiliation_strings":["Department of Pharmacology, University of Oxford, Oxford, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology, University of Oxford, Oxford, United Kingdom","institution_ids":["https://openalex.org/I40120149"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5043346952","https://openalex.org/A5078895245"],"corresponding_institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I40120149","https://openalex.org/I4210144228"],"apc_list":{"value":2382,"currency":"USD","value_usd":2382},"apc_paid":{"value":2382,"currency":"USD","value_usd":2382},"fwci":4.0214,"has_fulltext":true,"cited_by_count":28,"citation_normalized_percentile":{"value":0.93114302,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"11","issue":"3","first_page":"e0152007","last_page":"e0152007"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9545999765396118,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9545999765396118,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T10375","display_name":"Pharmacogenetics and Drug Metabolism","score":0.03590000048279762,"subfield":{"id":"https://openalex.org/subfields/3004","display_name":"Pharmacology"},"field":{"id":"https://openalex.org/fields/30","display_name":"Pharmacology, Toxicology and Pharmaceutics"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0017999999690800905,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/niemann-pick-disease-type-c","display_name":"Niemann-Pick disease type C","score":0.9929999709129333},{"id":"https://openalex.org/keywords/cytochrome-p450","display_name":"cytochrome P450","score":0.8989999890327454},{"id":"https://openalex.org/keywords/drug-metabolism","display_name":"drug metabolism","score":0.8949999809265137},{"id":"https://openalex.org/keywords/npc1","display_name":"NPC1","score":0.7670000195503235},{"id":"https://openalex.org/keywords/npc2","display_name":"NPC2","score":0.7540000081062317},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.7860000133514404},{"id":"https://openalex.org/keywords/midazolam-clearance","display_name":"midazolam clearance","score":0.722000002861023},{"id":"https://openalex.org/keywords/nadph-cytochrome-p450-reductase","display_name":"NADPH-cytochrome P450 reductase","score":0.9039999842643738},{"id":"https://openalex.org/keywords/dealkylation","display_name":"dealkylation","score":0.7760000228881836},{"id":"https://openalex.org/keywords/bile-acid-deficiency","display_name":"bile acid deficiency","score":0.8119999766349792},{"id":"https://openalex.org/keywords/npc1-knockout-mice","display_name":"Npc1 knockout mice","score":0.8090000152587891},{"id":"https://openalex.org/keywords/drug-toxicity","display_name":"drug toxicity","score":0.6729999780654907},{"id":"https://openalex.org/keywords/phase-ii-enzymes","display_name":"phase II enzymes","score":0.5249999761581421}],"concepts":[{"id":"https://openalex.org/C2778552423","wikidata":"https://www.wikidata.org/wiki/Q14914279","display_name":"NPC1","level":4,"score":0.9630112648010254},{"id":"https://openalex.org/C526171541","wikidata":"https://www.wikidata.org/wiki/Q407693","display_name":"Cytochrome P450","level":3,"score":0.6319377422332764},{"id":"https://openalex.org/C89311334","wikidata":"https://www.wikidata.org/wiki/Q1124842","display_name":"Drug metabolism","level":3,"score":0.4834388196468353},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4725484549999237},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.4425755739212036},{"id":"https://openalex.org/C98274493","wikidata":"https://www.wikidata.org/wiki/Q128406","display_name":"Pharmacology","level":1,"score":0.42453640699386597},{"id":"https://openalex.org/C2780035454","wikidata":"https://www.wikidata.org/wiki/Q8386","display_name":"Drug","level":2,"score":0.3224780559539795},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.3002476096153259},{"id":"https://openalex.org/C62231903","wikidata":"https://www.wikidata.org/wiki/Q1057","display_name":"Metabolism","level":2,"score":0.2434486448764801},{"id":"https://openalex.org/C102747710","wikidata":"https://www.wikidata.org/wiki/Q824237","display_name":"Endosome","level":3,"score":0.13199815154075623},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.12957006692886353},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000073738","descriptor_name":"2-Hydroxypropyl-beta-cyclodextrin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073738","descriptor_name":"2-Hydroxypropyl-beta-cyclodextrin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073738","descriptor_name":"2-Hydroxypropyl-beta-cyclodextrin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000077296","descriptor_name":"Niemann-Pick C1 Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000077296","descriptor_name":"Niemann-Pick C1 Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000077296","descriptor_name":"Niemann-Pick C1 Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001522","descriptor_name":"Behavior, Animal","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D001522","descriptor_name":"Behavior, Animal","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D001522","descriptor_name":"Behavior, Animal","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D002415","descriptor_name":"Cats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002415","descriptor_name":"Cats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002415","descriptor_name":"Cats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002851","descriptor_name":"Chromatography, High Pressure Liquid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002851","descriptor_name":"Chromatography, High Pressure Liquid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002851","descriptor_name":"Chromatography, High Pressure Liquid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003577","descriptor_name":"Cytochrome P-450 Enzyme System","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003577","descriptor_name":"Cytochrome P-450 Enzyme System","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003577","descriptor_name":"Cytochrome P-450 Enzyme System","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003577","descriptor_name":"Cytochrome P-450 Enzyme System","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D003577","descriptor_name":"Cytochrome P-450 Enzyme System","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D003577","descriptor_name":"Cytochrome P-450 Enzyme System","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D008807","descriptor_name":"Mice, Inbred BALB C","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008807","descriptor_name":"Mice, Inbred BALB C","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008807","descriptor_name":"Mice, Inbred BALB C","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008862","descriptor_name":"Microsomes, Liver","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D008862","descriptor_name":"Microsomes, Liver","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D008862","descriptor_name":"Microsomes, Liver","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D008862","descriptor_name":"Microsomes, Liver","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008862","descriptor_name":"Microsomes, Liver","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008862","descriptor_name":"Microsomes, Liver","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008874","descriptor_name":"Midazolam","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D008874","descriptor_name":"Midazolam","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D008874","descriptor_name":"Midazolam","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D008874","descriptor_name":"Midazolam","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008874","descriptor_name":"Midazolam","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008874","descriptor_name":"Midazolam","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008874","descriptor_name":"Midazolam","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D008874","descriptor_name":"Midazolam","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D008874","descriptor_name":"Midazolam","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D013058","descriptor_name":"Mass Spectrometry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013058","descriptor_name":"Mass Spectrometry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013058","descriptor_name":"Mass Spectrometry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014580","descriptor_name":"Ursodeoxycholic Acid","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014580","descriptor_name":"Ursodeoxycholic Acid","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014580","descriptor_name":"Ursodeoxycholic Acid","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014580","descriptor_name":"Ursodeoxycholic Acid","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D014580","descriptor_name":"Ursodeoxycholic Acid","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D014580","descriptor_name":"Ursodeoxycholic Acid","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D018345","descriptor_name":"Mice, Knockout","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018345","descriptor_name":"Mice, Knockout","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018345","descriptor_name":"Mice, Knockout","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019587","descriptor_name":"Dietary Supplements","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019587","descriptor_name":"Dietary Supplements","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019587","descriptor_name":"Dietary Supplements","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023421","descriptor_name":"Models, Animal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023421","descriptor_name":"Models, Animal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023421","descriptor_name":"Models, Animal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D047392","descriptor_name":"beta-Cyclodextrins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D047392","descriptor_name":"beta-Cyclodextrins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D047392","descriptor_name":"beta-Cyclodextrins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D047392","descriptor_name":"beta-Cyclodextrins","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D047392","descriptor_name":"beta-Cyclodextrins","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D047392","descriptor_name":"beta-Cyclodextrins","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D047908","descriptor_name":"Intracellular Signaling Peptides and Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D047908","descriptor_name":"Intracellular Signaling Peptides and Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D047908","descriptor_name":"Intracellular Signaling Peptides and Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D052556","descriptor_name":"Niemann-Pick Disease, Type C","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D052556","descriptor_name":"Niemann-Pick Disease, Type C","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D052556","descriptor_name":"Niemann-Pick Disease, Type C","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D052556","descriptor_name":"Niemann-Pick Disease, Type C","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D052556","descriptor_name":"Niemann-Pick Disease, Type C","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D052556","descriptor_name":"Niemann-Pick Disease, Type C","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D060888","descriptor_name":"Real-Time Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060888","descriptor_name":"Real-Time Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060888","descriptor_name":"Real-Time Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1371/journal.pone.0152007","doi":"https://doi.org/10.1371/journal.pone.0152007","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0152007","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0152007&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"public-domain","license_id":"https://openalex.org/licenses/public-domain","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS ONE","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:3790343","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4809520","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"public-domain","license_id":"https://openalex.org/licenses/public-domain","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4809520","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4809520","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"public-domain","license_id":"https://openalex.org/licenses/public-domain","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS One","raw_type":"Text"},{"id":"pmid:27019000","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/27019000","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PloS one","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:a33ecbb75c804f209699d9546d139a51","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/a33ecbb75c804f209699d9546d139a51","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS ONE, Vol 11, Iss 3, p e0152007 (2016)","raw_type":"article"},{"id":"pmh:oai:figshare.com:article/3131827","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Defective_Cytochrome_P450_Catalysed_Drug_Metabolism_in_Niemann_Pick_Type_C_Disease/3131827","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Dataset"}],"best_oa_location":{"id":"doi:10.1371/journal.pone.0152007","doi":"https://doi.org/10.1371/journal.pone.0152007","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0152007","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0152007&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"public-domain","license_id":"https://openalex.org/licenses/public-domain","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS ONE","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"score":0.5400000214576721,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2915991071","display_name":null,"funder_award_id":"RR02512","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G552520042","display_name":null,"funder_award_id":"R01 NS073661","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G6906554220","display_name":"Referral Center - Animal models of human genetic disease","funder_award_id":"P40RR002512","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G9000027373","display_name":null,"funder_award_id":"RR02512","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000064573","display_name":null,"funder_award_id":"P40-OD-010939","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320313762","display_name":"Frederick National Laboratory for Cancer Research","ror":"https://ror.org/03v6m3209"},{"id":"https://openalex.org/F4320319669","display_name":"Action Medical Research","ror":"https://ror.org/01wcqa315"},{"id":"https://openalex.org/F4320330814","display_name":"King Saud bin Abdulaziz University for Health Science","ror":"https://ror.org/0149jvn88"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"},{"id":"https://openalex.org/F4320337364","display_name":"National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"},{"id":"https://openalex.org/F4320337375","display_name":"National Center for Research Resources","ror":"https://ror.org/04pw6fb54"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2335525544.pdf","grobid_xml":"https://content.openalex.org/works/W2335525544.grobid-xml"},"referenced_works_count":75,"referenced_works":["https://openalex.org/W36309977","https://openalex.org/W91786466","https://openalex.org/W146706964","https://openalex.org/W1600135057","https://openalex.org/W1958017720","https://openalex.org/W1966832597","https://openalex.org/W1974316422","https://openalex.org/W1978400865","https://openalex.org/W1985921369","https://openalex.org/W1990070492","https://openalex.org/W1991684218","https://openalex.org/W1996168740","https://openalex.org/W1997966396","https://openalex.org/W1999750992","https://openalex.org/W2003750313","https://openalex.org/W2004849687","https://openalex.org/W2006281673","https://openalex.org/W2006668832","https://openalex.org/W2007869731","https://openalex.org/W2008440205","https://openalex.org/W2008762509","https://openalex.org/W2010427019","https://openalex.org/W2011555635","https://openalex.org/W2020520190","https://openalex.org/W2022546192","https://openalex.org/W2024281406","https://openalex.org/W2028704769","https://openalex.org/W2032170216","https://openalex.org/W2035517268","https://openalex.org/W2039202215","https://openalex.org/W2047586147","https://openalex.org/W2050687017","https://openalex.org/W2057678559","https://openalex.org/W2058056013","https://openalex.org/W2062881838","https://openalex.org/W2068262899","https://openalex.org/W2079080809","https://openalex.org/W2087745466","https://openalex.org/W2088436733","https://openalex.org/W2090573318","https://openalex.org/W2093401853","https://openalex.org/W2096565553","https://openalex.org/W2103078286","https://openalex.org/W2106045149","https://openalex.org/W2111329465","https://openalex.org/W2117316894","https://openalex.org/W2118247434","https://openalex.org/W2121515004","https://openalex.org/W2122527560","https://openalex.org/W2122703782","https://openalex.org/W2124474318","https://openalex.org/W2129679875","https://openalex.org/W2135170654","https://openalex.org/W2135885304","https://openalex.org/W2138034498","https://openalex.org/W2138786573","https://openalex.org/W2143142801","https://openalex.org/W2146296797","https://openalex.org/W2150904359","https://openalex.org/W2155503300","https://openalex.org/W2157900484","https://openalex.org/W2157913832","https://openalex.org/W2158225596","https://openalex.org/W2160475796","https://openalex.org/W2161458396","https://openalex.org/W2166496203","https://openalex.org/W2168016965","https://openalex.org/W2169491218","https://openalex.org/W2323196623","https://openalex.org/W2367049629","https://openalex.org/W2400103336","https://openalex.org/W2411102624","https://openalex.org/W2415826617","https://openalex.org/W2735817229","https://openalex.org/W3024300525"],"related_works":["https://openalex.org/W1443700128","https://openalex.org/W2753266992","https://openalex.org/W2753746193","https://openalex.org/W2908330562","https://openalex.org/W2806601645","https://openalex.org/W2065408118","https://openalex.org/W4402761230","https://openalex.org/W4297088032","https://openalex.org/W4226509881","https://openalex.org/W288677454"],"abstract_inverted_index":{"Niemann-Pick":[0],"type":[1],"C":[2],"(NPC)":[3],"disease":[4,10,230],"is":[5,22],"a":[6,70,85,130,146],"neurodegenerative":[7],"lysosomal":[8],"storage":[9,25],"caused":[11],"by":[12,24,79],"mutations":[13],"in":[14,29,35,53,65,90,98,107,154,157,173,186,204,216,234,241,256,260],"either":[15],"the":[16,30,48,80,95,99,108,117,158,163,180,198,221,235,242,249,257],"NPC1":[17,91,102,243,261],"or":[18],"NPC2":[19],"gene.":[20],"NPC":[21,54,229],"characterised":[23],"of":[26,50,73,94,101,111,120,125,133,162,193,200],"multiple":[27,134],"lipids":[28],"late":[31],"endosomal/lysosomal":[32],"compartment,":[33],"resulting":[34],"cellular":[36],"and":[37,129,219],"organ":[38],"system":[39,97,182,238,259],"dysfunction.":[40],"The":[41,190,232],"underlying":[42],"molecular":[43],"mechanisms":[44],"that":[45,252],"lead":[46],"to":[47,223],"range":[49],"clinical":[51],"presentations":[52],"are":[55,254],"not":[56],"fully":[57],"understood.":[58],"While":[59],"evaluating":[60],"potential":[61,86,222],"small":[62],"molecule":[63],"therapies":[64],"Npc1-/-":[66,121,159,174,205,217],"mice,":[67,122,206],"we":[68,247],"observed":[69,185],"consistent":[71],"pattern":[72],"toxicity":[74],"associated":[75,114],"with":[76],"drugs":[77],"metabolised":[78,149],"cytochrome":[81,126,135,236],"P450":[82,96,113,127,136,148,181,194,213,237,258],"system,":[83],"suggesting":[84],"drug":[87,142,155],"metabolism":[88,143],"defect":[89],"disease.":[92],"Investigation":[93],"context":[100],"dysfunction":[103,153,233],"revealed":[104],"significant":[105],"changes":[106],"gene":[109],"expression":[110],"many":[112],"genes":[115],"across":[116],"full":[118],"lifespan":[119],"decreased":[123],"activity":[124,178,192,215],"reductase,":[128],"global":[131],"decrease":[132],"catalysed":[137],"dealkylation":[138],"reactions.":[139],"In":[140],"vivo":[141],"studies":[144],"using":[145],"prototypic":[147],"drug,":[150],"midazolam,":[151],"confirmed":[152],"clearance":[156],"mouse.":[160],"Expression":[161],"Phase":[164],"II":[165],"enzyme":[166,214],"uridinediphosphate-glucuronosyltransferase":[167],"(UGT)":[168],"was":[169,183],"also":[170,184],"significantly":[171,211],"reduced":[172,177,191],"mice.":[175,189],"Interestingly,":[176],"within":[179],"heterozygous":[187],"Npc1+/-":[188],"enzymes":[195],"may":[196],"be":[197,224],"result":[199],"bile":[201,208],"acid":[202,209],"deficiency/imbalance":[203],"as":[207],"treatment":[210],"rescued":[212],"mice":[218],"has":[220],"an":[225],"adjunctive":[226],"therapy":[227],"for":[228],"patients.":[231,262],"were":[239],"recapitulated":[240],"feline":[244],"model.":[245],"Additionally,":[246],"present":[248],"first":[250],"evidence":[251],"there":[253],"alterations":[255]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":4},{"year":2019,"cited_by_count":8},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":1}],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2016-06-24T00:00:00"}