{"id":"https://openalex.org/W2043929943","doi":"https://doi.org/10.1007/s10545-013-9610-6","title":"Human and mouse neuroinflammation markers in Niemann\u2010Pick disease, type C1","display_name":"Human and mouse neuroinflammation markers in Niemann\u2010Pick disease, type C1","publication_year":2013,"publication_date":"2013-05-07","ids":{"openalex":"https://openalex.org/W2043929943","doi":"https://doi.org/10.1007/s10545-013-9610-6","mag":"2043929943","pmid":"https://pubmed.ncbi.nlm.nih.gov/23653225","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3877698"},"language":"en","primary_location":{"id":"doi:10.1007/s10545-013-9610-6","doi":"https://doi.org/10.1007/s10545-013-9610-6","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10545-013-9610-6","pdf_url":null,"source":{"id":"https://openalex.org/S186577254","display_name":"Journal of Inherited Metabolic Disease","issn_l":"0141-8955","issn":["0141-8955","1573-2665"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Inherited Metabolic Disease","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://www.ncbi.nlm.nih.gov/pmc/articles/3877698","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","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/I1299022934","display_name":"United States Department of Health and Human Services","ror":"https://ror.org/033jnv181","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934"]},{"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":["Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, NICHD, NIH, DHHS, Bld. 10, Rm. 9D42, 10 Center Dr, Bethesda, MD, 20892 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, NICHD, NIH, DHHS, Bld. 10, Rm. 9D42, 10 Center Dr, Bethesda, MD, 20892 USA","institution_ids":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]},{"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/I1299022934","display_name":"United States Department of Health and Human Services","ror":"https://ror.org/033jnv181","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934"]},{"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":["Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, NICHD, NIH, DHHS, Bld. 10, Rm. 9D42, 10 Center Dr, Bethesda, MD, 20892 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, NICHD, NIH, DHHS, Bld. 10, Rm. 9D42, 10 Center Dr, Bethesda, MD, 20892 USA","institution_ids":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044436689","display_name":"Nicole M. Yanjanin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299022934","display_name":"United States Department of Health and Human Services","ror":"https://ror.org/033jnv181","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934"]},{"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":"Nicole M. Yanjanin","raw_affiliation_strings":["Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, NICHD, NIH, DHHS, Bld. 10, Rm. 9D42, 10 Center Dr, Bethesda, MD, 20892 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, NICHD, NIH, DHHS, Bld. 10, Rm. 9D42, 10 Center Dr, Bethesda, MD, 20892 USA","institution_ids":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071586983","display_name":"Paul S. Blank","orcid":"https://orcid.org/0000-0002-6285-4277","observed_orcids":["https://orcid.org/0000-0002-6285-4277"]},"institutions":[{"id":"https://openalex.org/I1299022934","display_name":"United States Department of Health and Human Services","ror":"https://ror.org/033jnv181","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934"]},{"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":"Paul S. Blank","raw_affiliation_strings":["Program in Physical Biology, Section on Membrane & Cellular Biophysics, NICHD, NIH, DHHS, Bethesda, MD, 20892 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program in Physical Biology, Section on Membrane & Cellular Biophysics, NICHD, NIH, DHHS, Bethesda, MD, 20892 USA","institution_ids":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043268031","display_name":"Michelle K. Dail","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299022934","display_name":"United States Department of Health and Human Services","ror":"https://ror.org/033jnv181","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934"]},{"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":"Michelle K. Dail","raw_affiliation_strings":["Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, NICHD, NIH, DHHS, Bld. 10, Rm. 9D42, 10 Center Dr, Bethesda, MD, 20892 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, NICHD, NIH, DHHS, Bld. 10, Rm. 9D42, 10 Center Dr, Bethesda, MD, 20892 USA","institution_ids":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082206141","display_name":"Stephan Siebel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299022934","display_name":"United States Department of Health and Human Services","ror":"https://ror.org/033jnv181","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934"]},{"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":"Stephan Siebel","raw_affiliation_strings":["Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, NICHD, NIH, DHHS, Bld. 10, Rm. 9D42, 10 Center Dr, Bethesda, MD, 20892 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, NICHD, NIH, DHHS, Bld. 10, Rm. 9D42, 10 Center Dr, Bethesda, MD, 20892 USA","institution_ids":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066320470","display_name":"Cynthia L. Toth","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299022934","display_name":"United States Department of Health and Human Services","ror":"https://ror.org/033jnv181","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934"]},{"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":"Cynthia L. Toth","raw_affiliation_strings":["Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, NICHD, NIH, DHHS, Bld. 10, Rm. 9D42, 10 Center Dr, Bethesda, MD, 20892 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, NICHD, NIH, DHHS, Bld. 10, Rm. 9D42, 10 Center Dr, Bethesda, MD, 20892 USA","institution_ids":["https://openalex.org/I1299022934","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/I1299022934","display_name":"United States Department of Health and Human Services","ror":"https://ror.org/033jnv181","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934"]},{"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":"Christopher A. Wassif","raw_affiliation_strings":["Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, NICHD, NIH, DHHS, Bld. 10, Rm. 9D42, 10 Center Dr, Bethesda, MD, 20892 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, NICHD, NIH, DHHS, Bld. 10, Rm. 9D42, 10 Center Dr, Bethesda, MD, 20892 USA","institution_ids":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064188953","display_name":"Andrew P. Lieberman","orcid":"https://orcid.org/0000-0001-9032-580X","observed_orcids":["https://orcid.org/0000-0001-9032-580X"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew P. Lieberman","raw_affiliation_strings":["Department of Pathology, University of Michigan, Ann Arbor, MI, 48109 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, University of Michigan, Ann Arbor, MI, 48109 USA","institution_ids":["https://openalex.org/I27837315"]}]},{"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/I1299022934","display_name":"United States Department of Health and Human Services","ror":"https://ror.org/033jnv181","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934"]},{"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":["Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, NICHD, NIH, DHHS, Bld. 10, Rm. 9D42, 10 Center Dr, Bethesda, MD, 20892 USA","Telephone: +1-301-4354432,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, NICHD, NIH, DHHS, Bld. 10, Rm. 9D42, 10 Center Dr, Bethesda, MD, 20892 USA","institution_ids":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210144228"]},{"raw_affiliation_string":"Telephone: +1-301-4354432,","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5043346952"],"corresponding_institution_ids":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210144228"],"apc_list":{"value":3470,"currency":"USD","value_usd":3470},"apc_paid":null,"fwci":4.158,"has_fulltext":true,"cited_by_count":92,"citation_normalized_percentile":{"value":0.93888464,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":95,"max":99},"biblio":{"volume":"37","issue":"1","first_page":"83","last_page":"92"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9980000257492065,"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":0.9980000257492065,"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0005000000237487257,"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"}},{"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"}}],"keywords":[{"id":"https://openalex.org/keywords/niemann-pick-disease-type-c1","display_name":"Niemann-Pick disease type C1","score":0.9670000076293945},{"id":"https://openalex.org/keywords/neuroinflammation","display_name":"neuroinflammation","score":0.9509999752044678},{"id":"https://openalex.org/keywords/cerebrospinal-fluid-biomarkers","display_name":"cerebrospinal fluid biomarkers","score":0.8939999938011169},{"id":"https://openalex.org/keywords/complement-c3","display_name":"complement C3","score":0.8100000023841858},{"id":"https://openalex.org/keywords/lipid-storage-disease","display_name":"lipid storage disease","score":0.7250000238418579},{"id":"https://openalex.org/keywords/miglustat","display_name":"miglustat","score":0.7390000224113464},{"id":"https://openalex.org/keywords/interleukin-3","display_name":"interleukin-3","score":0.6650000214576721},{"id":"https://openalex.org/keywords/interleukin-16","display_name":"interleukin-16","score":0.8159999847412109},{"id":"https://openalex.org/keywords/ccl3","display_name":"CCL3","score":0.7289999723434448},{"id":"https://openalex.org/keywords/il-10","display_name":"IL-10","score":0.6940000057220459},{"id":"https://openalex.org/keywords/il-13","display_name":"IL-13","score":0.9789999723434448},{"id":"https://openalex.org/keywords/il-12p40","display_name":"IL-12p40","score":0.7269999980926514},{"id":"https://openalex.org/keywords/gene-expression-profiling","display_name":"gene expression profiling","score":0.5479999780654907},{"id":"https://openalex.org/keywords/postmortem-brain","display_name":"postmortem brain","score":0.7039999961853027},{"id":"https://openalex.org/keywords/disease-severity","display_name":"disease severity","score":0.6819999814033508}],"concepts":[{"id":"https://openalex.org/C2778552423","wikidata":"https://www.wikidata.org/wiki/Q14914279","display_name":"NPC1","level":4,"score":0.8980693817138672},{"id":"https://openalex.org/C87753298","wikidata":"https://www.wikidata.org/wiki/Q17157137","display_name":"Neuroinflammation","level":3,"score":0.8694436550140381},{"id":"https://openalex.org/C2776914184","wikidata":"https://www.wikidata.org/wiki/Q101991","display_name":"Inflammation","level":2,"score":0.5752242803573608},{"id":"https://openalex.org/C2780635549","wikidata":"https://www.wikidata.org/wiki/Q2067267","display_name":"Niemann\u2013Pick disease, type C","level":3,"score":0.4737078845500946},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.4481213092803955},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.41150182485580444},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.34310442209243774},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3088309168815613},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.18561899662017822},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.15180808305740356},{"id":"https://openalex.org/C102747710","wikidata":"https://www.wikidata.org/wiki/Q824237","display_name":"Endosome","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","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":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002531","descriptor_name":"Cerebellum","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002540","descriptor_name":"Cerebral Cortex","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003176","descriptor_name":"Complement C3","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D004195","descriptor_name":"Disease Models, Animal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005786","descriptor_name":"Gene Expression Regulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007249","descriptor_name":"Inflammation","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D007249","descriptor_name":"Inflammation","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D007378","descriptor_name":"Interleukins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","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":"D008822","descriptor_name":"Mice, Transgenic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015415","descriptor_name":"Biomarkers","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D017485","descriptor_name":"1-Deoxynojirimycin","qualifier_ui":"Q000031","qualifier_name":"analogs & derivatives","is_major_topic":false},{"descriptor_ui":"D017485","descriptor_name":"1-Deoxynojirimycin","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","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":"D054365","descriptor_name":"Chemokine CXCL5","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D054405","descriptor_name":"Chemokine CCL3","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1007/s10545-013-9610-6","doi":"https://doi.org/10.1007/s10545-013-9610-6","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10545-013-9610-6","pdf_url":null,"source":{"id":"https://openalex.org/S186577254","display_name":"Journal of Inherited Metabolic Disease","issn_l":"0141-8955","issn":["0141-8955","1573-2665"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Inherited Metabolic Disease","raw_type":"journal-article"},{"id":"pmid:23653225","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23653225","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 inherited metabolic disease","raw_type":"Journal Article"},{"id":"pmh:oai:europepmc.org:3245274","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3877698","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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3877698","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3877698/","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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"J Inherit Metab Dis","raw_type":"Text"},{"id":"pmh:oai:deepblue.lib.umich.edu:2027.42/147148","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/2027.42/147148","pdf_url":"https://hdl.handle.net/2027.42/147148","source":{"id":"https://openalex.org/S4306400393","display_name":"Deep Blue (University of Michigan)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I27837315","host_organization_name":"University of Michigan","host_organization_lineage":["https://openalex.org/I27837315"],"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":"Article"}],"best_oa_location":{"id":"pmh:oai:europepmc.org:3245274","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3877698","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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G4863260348","display_name":"Clinical Investigations of Niemann-Pick Disease,  type C","funder_award_id":"ZIAHD008824","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G7411507310","display_name":"Inborn Errors of Cholesterol Synthesis","funder_award_id":"ZIAHD000139","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G7443735373","display_name":"Unraveling mechanisms of Niemann-Pick C neuropathology with mouse models","funder_award_id":"R01NS063967","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"}],"funders":[{"id":"https://openalex.org/F4320306794","display_name":"Ara Parseghian Medical Research Foundation","ror":"https://ror.org/05kjchg44"},{"id":"https://openalex.org/F4320307375","display_name":"National Niemann-Pick Disease Foundation","ror":"https://ror.org/05v6a8j46"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"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/F4320337376","display_name":"NIH Clinical Center","ror":"https://ror.org/04vfsmv21"},{"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/W2043929943.pdf","grobid_xml":"https://content.openalex.org/works/W2043929943.grobid-xml"},"referenced_works_count":54,"referenced_works":["https://openalex.org/W204348490","https://openalex.org/W1517698792","https://openalex.org/W1793538934","https://openalex.org/W1971398322","https://openalex.org/W1975110303","https://openalex.org/W1978140170","https://openalex.org/W1981320774","https://openalex.org/W1998279241","https://openalex.org/W1999487819","https://openalex.org/W2003750313","https://openalex.org/W2005740166","https://openalex.org/W2012273060","https://openalex.org/W2015901846","https://openalex.org/W2020520190","https://openalex.org/W2029060257","https://openalex.org/W2035517268","https://openalex.org/W2040407461","https://openalex.org/W2040423913","https://openalex.org/W2044444072","https://openalex.org/W2045083711","https://openalex.org/W2045963276","https://openalex.org/W2063467367","https://openalex.org/W2065408118","https://openalex.org/W2068262899","https://openalex.org/W2080911273","https://openalex.org/W2080946103","https://openalex.org/W2081340046","https://openalex.org/W2081415721","https://openalex.org/W2091694199","https://openalex.org/W2092282071","https://openalex.org/W2107277218","https://openalex.org/W2114360920","https://openalex.org/W2114808073","https://openalex.org/W2129679875","https://openalex.org/W2130684865","https://openalex.org/W2134893181","https://openalex.org/W2136700988","https://openalex.org/W2147612731","https://openalex.org/W2150904359","https://openalex.org/W2155503300","https://openalex.org/W2155909345","https://openalex.org/W2157900484","https://openalex.org/W2158140506","https://openalex.org/W2159822434","https://openalex.org/W2160604070","https://openalex.org/W2161432662","https://openalex.org/W2163171037","https://openalex.org/W2164179897","https://openalex.org/W2164903672","https://openalex.org/W2168016965","https://openalex.org/W2168635082","https://openalex.org/W2307447599","https://openalex.org/W2320064004","https://openalex.org/W3024300525"],"related_works":["https://openalex.org/W2044444072","https://openalex.org/W4310673716","https://openalex.org/W4316015005","https://openalex.org/W1979211500","https://openalex.org/W2157761924","https://openalex.org/W4318617099","https://openalex.org/W4313455734","https://openalex.org/W2143142801","https://openalex.org/W6939573600","https://openalex.org/W4385155191"],"abstract_inverted_index":{"Niemann-Pick":[0],"disease,":[1],"type":[2],"C1":[3],"(NPC1)":[4],"is":[5,24,33],"an":[6],"autosomal":[7],"recessive":[8],"lipid":[9],"storage":[10],"disorder":[11],"in":[12,26,45,58,64,80,96,112,150,166,200,215],"which":[13],"a":[14,184,209],"pathological":[15],"cascade,":[16],"including":[17],"neuroinflammation":[18,23,44],"occurs.":[19],"While":[20],"data":[21,29],"demonstrating":[22],"prevalent":[25],"mouse":[27,51,60,97],"models,":[28],"from":[30,47,116,152],"NPC1":[31,46,54,101,117,153,167,205,216],"patients":[32,118,168,206],"lacking.":[34],"The":[35,192],"current":[36],"study":[37],"focuses":[38],"on":[39,189],"identifying":[40],"potential":[41],"markers":[42,111,156,196],"of":[43,66,78,109,125,143,187,194,204],"both":[48],"the":[49,59,76,201],"Npc1":[50],"model":[52,61],"and":[53,71,83,98,119,135,140,148,173],"patients.":[55,154],"We":[56,104,121],"identified":[57],"significant":[62],"changes":[63],"expression":[65,79,88],"genes":[67],"associated":[68],"with":[69,159,197],"inflammation":[70,190],"compared":[72],"these":[73],"results":[74],"to":[75,161,182,211],"pattern":[77],"human":[81,99],"cortex":[82],"cerebellar":[84],"tissue.":[85],"From":[86],"gene":[87],"array":[89],"analysis,":[90],"complement":[91],"3":[92,138],"(C3)":[93],"was":[94],"increased":[95,123],"post-mortem":[100],"brain":[102],"tissues.":[103],"also":[105],"characterized":[106],"protein":[107],"levels":[108,124,142,199],"inflammatory":[110,195],"cerebrospinal":[113,202],"fluid":[114,203],"(CSF)":[115],"controls.":[120],"found":[122],"interleukin":[126,133,144],"3,":[127],"chemokine":[128,136],"(C-X-C":[129],"motif)":[130],"ligand":[131,137],"5,":[132],"16":[134],"(CCL3),":[139],"decreased":[141,170],"4,":[145],"10,":[146],"13":[147],"12p40":[149],"CSF":[151,155,175],"were":[157],"evaluated":[158],"respect":[160],"phenotypic":[162],"severity.":[163],"Miglustat":[164],"treatment":[165],"slightly":[169],"IL-3,":[171],"IL-10":[172],"IL-13":[174],"levels;":[176],"however,":[177],"further":[178],"studies":[179],"are":[180],"needed":[181],"establish":[183],"strong":[185],"effect":[186],"miglustat":[188],"markers.":[191],"identification":[193],"altered":[198],"may":[207],"provide":[208],"means":[210],"follow":[212],"secondary":[213],"events":[214],"disease":[217],"during":[218],"therapeutic":[219],"trials.":[220]},"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":15},{"year":2022,"cited_by_count":8},{"year":2021,"cited_by_count":9},{"year":2020,"cited_by_count":10},{"year":2019,"cited_by_count":8},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":6},{"year":2016,"cited_by_count":7},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":3}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
