{"id":"https://openalex.org/W4228999923","doi":"https://doi.org/10.1007/s13353-022-00695-y","title":"An explanation for the decreased severity of liver malfunction in Niemann-Pick C1 disease with age","display_name":"An explanation for the decreased severity of liver malfunction in Niemann-Pick C1 disease with age","publication_year":2022,"publication_date":"2022-05-05","ids":{"openalex":"https://openalex.org/W4228999923","doi":"https://doi.org/10.1007/s13353-022-00695-y","pmid":"https://pubmed.ncbi.nlm.nih.gov/35508755"},"language":"en","primary_location":{"id":"doi:10.1007/s13353-022-00695-y","doi":"https://doi.org/10.1007/s13353-022-00695-y","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s13353-022-00695-y","pdf_url":null,"source":{"id":"https://openalex.org/S152710239","display_name":"Journal of Applied Genetics","issn_l":"1234-1983","issn":["1234-1983","2190-3883"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","medline","norway-1","poland-140","russia-white-list-2"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Applied Genetics","raw_type":"journal-article"},"volume":null,"type":"review","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5004919410","display_name":"Robert P. Erickson","orcid":"https://orcid.org/0000-0002-5298-5038","observed_orcids":["https://orcid.org/0000-0002-5298-5038"]},"institutions":[{"id":"https://openalex.org/I138006243","display_name":"University of Arizona","ror":"https://ror.org/03m2x1q45","country_code":"US","type":"education","lineage":["https://openalex.org/I138006243"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Robert P. Erickson","raw_affiliation_strings":["Dept of Pediatrics, University of Arizona, Tucson, AZ, 85724-5073, USA. erickson@peds.arizona.edu","Dept of Pediatrics, University of Arizona, Tucson, AZ, 85724-5073, USA"],"raw_orcid":"https://orcid.org/0000-0002-5298-5038","affiliations":[{"raw_affiliation_string":"Dept of Pediatrics, University of Arizona, Tucson, AZ, 85724-5073, USA. erickson@peds.arizona.edu","institution_ids":["https://openalex.org/I138006243"]},{"raw_affiliation_string":"Dept of Pediatrics, University of Arizona, Tucson, AZ, 85724-5073, USA","institution_ids":["https://openalex.org/I138006243"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026416444","display_name":"Lawrence I. Grossman","orcid":"https://orcid.org/0000-0002-1059-9358","observed_orcids":["https://orcid.org/0000-0002-1059-9358"]},"institutions":[{"id":"https://openalex.org/I185443292","display_name":"Wayne State University","ror":"https://ror.org/01070mq45","country_code":"US","type":"education","lineage":["https://openalex.org/I185443292"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lawrence I. Grossman","raw_affiliation_strings":["Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, 48201, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, 48201, USA","institution_ids":["https://openalex.org/I185443292"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5020587613","display_name":"Siddhesh Aras","orcid":"https://orcid.org/0000-0003-0068-8741","observed_orcids":["https://orcid.org/0000-0003-0068-8741"]},"institutions":[{"id":"https://openalex.org/I185443292","display_name":"Wayne State University","ror":"https://ror.org/01070mq45","country_code":"US","type":"education","lineage":["https://openalex.org/I185443292"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Siddhesh Aras","raw_affiliation_strings":["Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, 48201, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, 48201, USA","institution_ids":["https://openalex.org/I185443292"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5004919410"],"corresponding_institution_ids":["https://openalex.org/I138006243"],"apc_list":{"value":3390,"currency":"USD","value_usd":3390},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.00700095,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"63","issue":"3","first_page":"469","last_page":"474"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0008999999845400453,"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"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical 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":[{"id":"https://openalex.org/keywords/cholestasis","display_name":"cholestasis","score":0.6570000052452087},{"id":"https://openalex.org/keywords/liver-disease-severity","display_name":"liver disease severity","score":0.5879999995231628},{"id":"https://openalex.org/keywords/hepatic-cholesterol","display_name":"liver cholesterol","score":0.6230000257492065},{"id":"https://openalex.org/keywords/mitochondrial-function","display_name":"mitochondrial function","score":0.9739999771118164},{"id":"https://openalex.org/keywords/mouse-model","display_name":"mouse model","score":0.6029999852180481},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.7039999961853027}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8582195043563843},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6661418080329895},{"id":"https://openalex.org/C2779489717","wikidata":"https://www.wikidata.org/wiki/Q1419931","display_name":"Niemann\u2013Pick disease","level":3,"score":0.573989987373352},{"id":"https://openalex.org/C6929976","wikidata":"https://www.wikidata.org/wiki/Q3771881","display_name":"Regulator","level":3,"score":0.5182875990867615},{"id":"https://openalex.org/C2777075537","wikidata":"https://www.wikidata.org/wiki/Q929737","display_name":"Liver disease","level":2,"score":0.5101054310798645},{"id":"https://openalex.org/C2777614518","wikidata":"https://www.wikidata.org/wiki/Q935710","display_name":"Mitochondrial disease","level":4,"score":0.499741792678833},{"id":"https://openalex.org/C28859421","wikidata":"https://www.wikidata.org/wiki/Q39572","display_name":"Mitochondrion","level":2,"score":0.49348771572113037},{"id":"https://openalex.org/C14036430","wikidata":"https://www.wikidata.org/wiki/Q3736076","display_name":"Function (biology)","level":2,"score":0.46054452657699585},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4163203537464142},{"id":"https://openalex.org/C42407357","wikidata":"https://www.wikidata.org/wiki/Q521","display_name":"Physiology","level":1,"score":0.3746403455734253},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3575456142425537},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.29520413279533386},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2143251895904541},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.17563733458518982},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.10818454623222351},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.06881198287010193},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.06384328007698059}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004195","descriptor_name":"Disease Models, Animal","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":null,"qualifier_name":null,"is_major_topic":true},{"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":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1007/s13353-022-00695-y","doi":"https://doi.org/10.1007/s13353-022-00695-y","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s13353-022-00695-y","pdf_url":null,"source":{"id":"https://openalex.org/S152710239","display_name":"Journal of Applied Genetics","issn_l":"1234-1983","issn":["1234-1983","2190-3883"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","medline","norway-1","poland-140","russia-white-list-2"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Applied Genetics","raw_type":"journal-article"},{"id":"pmid:35508755","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35508755","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":"Journal of applied genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[],"awards":[{"id":"https://openalex.org/G5976599154","display_name":null,"funder_award_id":"W81XWH-16-1-0516","funder_id":"https://openalex.org/F4320333578","funder_display_name":"Office of the Under Secretary of Defense"}],"funders":[{"id":"https://openalex.org/F4320333578","display_name":"Office of the Under Secretary of Defense","ror":null}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":40,"referenced_works":["https://openalex.org/W288677454","https://openalex.org/W1973025253","https://openalex.org/W1974316422","https://openalex.org/W2004550854","https://openalex.org/W2011555635","https://openalex.org/W2014053081","https://openalex.org/W2024364814","https://openalex.org/W2028653182","https://openalex.org/W2037942173","https://openalex.org/W2048340520","https://openalex.org/W2050723884","https://openalex.org/W2053203314","https://openalex.org/W2057678559","https://openalex.org/W2065805812","https://openalex.org/W2068262899","https://openalex.org/W2079299463","https://openalex.org/W2083000478","https://openalex.org/W2093518043","https://openalex.org/W2113003930","https://openalex.org/W2119660486","https://openalex.org/W2134893181","https://openalex.org/W2168016965","https://openalex.org/W2168517818","https://openalex.org/W2594059806","https://openalex.org/W2623466121","https://openalex.org/W2623661031","https://openalex.org/W2772346698","https://openalex.org/W2784667865","https://openalex.org/W2790217549","https://openalex.org/W2802453253","https://openalex.org/W2921481438","https://openalex.org/W2995694533","https://openalex.org/W3034390811","https://openalex.org/W3108093980","https://openalex.org/W3123662853","https://openalex.org/W3168105037","https://openalex.org/W3171494824","https://openalex.org/W3176572445","https://openalex.org/W3194749402","https://openalex.org/W3195827831"],"related_works":["https://openalex.org/W2995280817","https://openalex.org/W2109931172","https://openalex.org/W1998420670","https://openalex.org/W2268308581","https://openalex.org/W2150065552","https://openalex.org/W2006191247","https://openalex.org/W7117489741","https://openalex.org/W2921600898","https://openalex.org/W2186094021","https://openalex.org/W2065408118"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2022-05-08T00:00:00"}