{"id":"https://openalex.org/W7160308751","doi":"https://doi.org/10.1016/j.neulet.2026.138716","title":"Lack of cathepsin B increases severity in Niemann-Pick disease, type C1 mice","display_name":"Lack of cathepsin B increases severity in Niemann-Pick disease, type C1 mice","publication_year":2026,"publication_date":"2026-08-29","ids":{"openalex":"https://openalex.org/W7160308751","doi":"https://doi.org/10.1016/j.neulet.2026.138716","pmid":"https://pubmed.ncbi.nlm.nih.gov/42668108","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13540384"},"language":"en","primary_location":{"id":"doi:10.1016/j.neulet.2026.138716","doi":"https://doi.org/10.1016/j.neulet.2026.138716","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.neulet.2026.138716","pdf_url":null,"source":{"id":"https://openalex.org/S203050076","display_name":"Neuroscience Letters","issn_l":"0304-3940","issn":["0304-3940","1872-7972"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","medline","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuroscience Letters","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://doi.org/10.2139/ssrn.6714342","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5033494508","display_name":"Rachel Luke","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":"Rachel Luke","raw_affiliation_strings":["Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031729758","display_name":"Niamh X. Cawley","orcid":"https://orcid.org/0000-0003-2785-5941","observed_orcids":["https://orcid.org/0000-0003-2785-5941"]},"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":"Niamh X. Cawley","raw_affiliation_strings":["Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA"],"raw_orcid":"https://orcid.org/0000-0003-2785-5941","affiliations":[{"raw_affiliation_string":"Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]},{"author_position":"last","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 on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA. Electronic address: fdporter@mail.nih.gov"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA. Electronic address: fdporter@mail.nih.gov","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5043346952"],"corresponding_institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"],"apc_list":{"value":3430,"currency":"USD","value_usd":3430},"apc_paid":null,"fwci":0.0,"has_fulltext":true,"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":"886","issue":null,"first_page":"138716","last_page":"138716"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T14415","display_name":"Biomedical Research and Pathophysiology","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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":0.00019999999494757503,"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":[{"id":"https://openalex.org/keywords/niemann-pick-disease-type-c1","display_name":"Niemann-Pick disease type C1","score":0.9580000042915344},{"id":"https://openalex.org/keywords/cathepsin-b","display_name":"cathepsin B","score":0.9860000014305115},{"id":"https://openalex.org/keywords/lysosomal-membrane-permeability","display_name":"lysosomal membrane permeability","score":0.9120000004768372},{"id":"https://openalex.org/keywords/microglia","display_name":"microglia","score":0.7990000247955322},{"id":"https://openalex.org/keywords/neurodegeneration","display_name":"neurodegeneration","score":0.9340000152587891},{"id":"https://openalex.org/keywords/apoptosis","display_name":"apoptosis","score":0.5509999990463257},{"id":"https://openalex.org/keywords/neuroinflammation","display_name":"neuroinflammation","score":0.9990000128746033},{"id":"https://openalex.org/keywords/double-mutant-mice","display_name":"double mutant mice","score":0.7860000133514404},{"id":"https://openalex.org/keywords/disease-severity","display_name":"disease severity","score":0.7789999842643738},{"id":"https://openalex.org/keywords/life-expectancy","display_name":"life expectancy","score":0.6600000262260437},{"id":"https://openalex.org/keywords/postnatal-development","display_name":"postnatal development","score":0.9340000152587891}],"concepts":[{"id":"https://openalex.org/C28021979","wikidata":"https://www.wikidata.org/wiki/Q14911946","display_name":"Cathepsin B","level":3,"score":0.7152000069618225},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6068000197410583},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.6015999913215637},{"id":"https://openalex.org/C81216549","wikidata":"https://www.wikidata.org/wiki/Q18022191","display_name":"Cathepsin L1","level":4,"score":0.5719000101089478},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.5490999817848206},{"id":"https://openalex.org/C167844969","wikidata":"https://www.wikidata.org/wiki/Q426245","display_name":"Cathepsin","level":3,"score":0.510200023651123},{"id":"https://openalex.org/C151701858","wikidata":"https://www.wikidata.org/wiki/Q14902024","display_name":"Cathepsin S","level":4,"score":0.4587000012397766},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4397999942302704},{"id":"https://openalex.org/C173633252","wikidata":"https://www.wikidata.org/wiki/Q3663475","display_name":"Cathepsin D","level":3,"score":0.4189999997615814},{"id":"https://openalex.org/C51618164","wikidata":"https://www.wikidata.org/wiki/Q5052484","display_name":"Cathepsin H","level":4,"score":0.41440001130104065},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4133000075817108},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4047999978065491},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.36329999566078186},{"id":"https://openalex.org/C2780034444","wikidata":"https://www.wikidata.org/wiki/Q5052485","display_name":"Cathepsin L","level":4,"score":0.3564000129699707},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3499999940395355},{"id":"https://openalex.org/C207583985","wikidata":"https://www.wikidata.org/wiki/Q128723","display_name":"Wild type","level":4,"score":0.33970001339912415},{"id":"https://openalex.org/C174937957","wikidata":"https://www.wikidata.org/wiki/Q18248582","display_name":"Cathepsin E","level":5,"score":0.3244999945163727},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.32170000672340393},{"id":"https://openalex.org/C2993493390","wikidata":"https://www.wikidata.org/wiki/Q5453208","display_name":"First line","level":2,"score":0.30979999899864197},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.3066999912261963},{"id":"https://openalex.org/C2777132095","wikidata":"https://www.wikidata.org/wiki/Q14906548","display_name":"Cathepsin G","level":4,"score":0.2962999939918518},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.287200003862381},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.2831000089645386},{"id":"https://openalex.org/C2780942790","wikidata":"https://www.wikidata.org/wiki/Q372016","display_name":"Pathogenesis","level":2,"score":0.2581999897956848}],"mesh":[{"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":"D002401","descriptor_name":"Cathepsin B","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D002401","descriptor_name":"Cathepsin B","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002401","descriptor_name":"Cathepsin B","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D017209","descriptor_name":"Apoptosis","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":"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},{"descriptor_ui":"D052556","descriptor_name":"Niemann-Pick Disease, Type C","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D052556","descriptor_name":"Niemann-Pick Disease, Type C","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1016/j.neulet.2026.138716","doi":"https://doi.org/10.1016/j.neulet.2026.138716","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.neulet.2026.138716","pdf_url":null,"source":{"id":"https://openalex.org/S203050076","display_name":"Neuroscience Letters","issn_l":"0304-3940","issn":["0304-3940","1872-7972"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","medline","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuroscience Letters","raw_type":"journal-article"},{"id":"doi:10.2139/ssrn.6714342","doi":"https://doi.org/10.2139/ssrn.6714342","is_oa":true,"landing_page_url":"https://doi.org/10.2139/ssrn.6714342","pdf_url":null,"source":{"id":"https://openalex.org/S4210172589","display_name":"SSRN Electronic Journal","issn_l":"1556-5068","issn":["1556-5068"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1318003438","host_organization_name":"RELX Group (Netherlands)","host_organization_lineage":["https://openalex.org/I1318003438"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"posted-content"},{"id":"pmid:42668108","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42668108","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":"Neuroscience letters","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13540384","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13540384/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13540384/pdf/nihms-2207292.pdf","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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Neurosci Lett","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.2139/ssrn.6714342","doi":"https://doi.org/10.2139/ssrn.6714342","is_oa":true,"landing_page_url":"https://doi.org/10.2139/ssrn.6714342","pdf_url":null,"source":{"id":"https://openalex.org/S4210172589","display_name":"SSRN Electronic Journal","issn_l":"1556-5068","issn":["1556-5068"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1318003438","host_organization_name":"RELX Group (Netherlands)","host_organization_lineage":["https://openalex.org/I1318003438"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"posted-content"},"sustainable_development_goals":[{"score":0.9763000011444092,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G7979827132","display_name":null,"funder_award_id":"ZIA HD-0008988","funder_id":"https://openalex.org/F4320337364","funder_display_name":"National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G9000903976","display_name":"Basic and Translational Studies of Inborn Errors of Metabolism","funder_award_id":"ZIAHD008988","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320306085","display_name":"U.S. Department of Health and Human Services","ror":"https://ror.org/033jnv181"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337364","display_name":"National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"},{"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/W7160308751.pdf","grobid_xml":"https://content.openalex.org/works/W7160308751.grobid-xml"},"referenced_works_count":22,"referenced_works":["https://openalex.org/W1503832746","https://openalex.org/W1987272412","https://openalex.org/W2058131268","https://openalex.org/W2068262899","https://openalex.org/W2069370434","https://openalex.org/W2300241723","https://openalex.org/W2327844212","https://openalex.org/W2559307267","https://openalex.org/W2795213045","https://openalex.org/W2906132343","https://openalex.org/W2913772233","https://openalex.org/W3016705584","https://openalex.org/W3041901315","https://openalex.org/W3131202669","https://openalex.org/W3195945079","https://openalex.org/W3212558148","https://openalex.org/W4224235665","https://openalex.org/W4225314929","https://openalex.org/W4282983570","https://openalex.org/W4402442986","https://openalex.org/W4403118674","https://openalex.org/W7143416108"],"related_works":["https://openalex.org/W2327844212","https://openalex.org/W2058131268","https://openalex.org/W2037373871","https://openalex.org/W2016365088","https://openalex.org/W2904267227","https://openalex.org/W2481873169","https://openalex.org/W2320064004","https://openalex.org/W1984073321","https://openalex.org/W2081340046","https://openalex.org/W2054595666"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2026-05-06T00:00:00"}