{"id":"https://openalex.org/W8192888","doi":"https://doi.org/10.1182/blood.v96.5.1969","title":"Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K","display_name":"Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K","publication_year":2000,"publication_date":"2000-09-01","ids":{"openalex":"https://openalex.org/W8192888","doi":"https://doi.org/10.1182/blood.v96.5.1969","mag":"8192888","pmid":"https://pubmed.ncbi.nlm.nih.gov/10961902"},"language":"en","primary_location":{"id":"doi:10.1182/blood.v96.5.1969","doi":"https://doi.org/10.1182/blood.v96.5.1969","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v96.5.1969","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","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":"Blood","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5047471906","display_name":"Mary Teresa Moran","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I2800129641","display_name":"Great Ormond Street Hospital","ror":"https://ror.org/00zn2c847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800129641","https://openalex.org/I2800349819"]},{"id":"https://openalex.org/I4210156194","display_name":"Addenbrooke's Hospital","ror":"https://ror.org/055vbxf86","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802466933","https://openalex.org/I4210156194"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Mary Teresa Moran","raw_affiliation_strings":["From the Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England; Pulmonary and Critical Care Medicine, Harvard Medical School, Brigham and Women's Hospital, Boston, MA; and Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England; Pulmonary and Critical Care Medicine, Harvard Medical School, Brigham and Women's Hospital, Boston, MA; and Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984","https://openalex.org/I241749","https://openalex.org/I2800129641","https://openalex.org/I4210156194"]},{"raw_affiliation_string":"Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","institution_ids":["https://openalex.org/I2800129641"]},{"raw_affiliation_string":"Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210156194"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113612224","display_name":"J. Paul Schofield","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I2800129641","display_name":"Great Ormond Street Hospital","ror":"https://ror.org/00zn2c847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800129641","https://openalex.org/I2800349819"]},{"id":"https://openalex.org/I4210156194","display_name":"Addenbrooke's Hospital","ror":"https://ror.org/055vbxf86","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802466933","https://openalex.org/I4210156194"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"J. Paul Schofield","raw_affiliation_strings":["From the Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England; Pulmonary and Critical Care Medicine, Harvard Medical School, Brigham and Women's Hospital, Boston, MA; and Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England; Pulmonary and Critical Care Medicine, Harvard Medical School, Brigham and Women's Hospital, Boston, MA; and Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984","https://openalex.org/I241749","https://openalex.org/I2800129641","https://openalex.org/I4210156194"]},{"raw_affiliation_string":"Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","institution_ids":["https://openalex.org/I2800129641"]},{"raw_affiliation_string":"Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210156194"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021964510","display_name":"Alison Ruth Hayman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I2800129641","display_name":"Great Ormond Street Hospital","ror":"https://ror.org/00zn2c847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800129641","https://openalex.org/I2800349819"]},{"id":"https://openalex.org/I4210156194","display_name":"Addenbrooke's Hospital","ror":"https://ror.org/055vbxf86","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802466933","https://openalex.org/I4210156194"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Alison R. Hayman","raw_affiliation_strings":["From the Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England; Pulmonary and Critical Care Medicine, Harvard Medical School, Brigham and Women's Hospital, Boston, MA; and Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England; Pulmonary and Critical Care Medicine, Harvard Medical School, Brigham and Women's Hospital, Boston, MA; and Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984","https://openalex.org/I241749","https://openalex.org/I2800129641","https://openalex.org/I4210156194"]},{"raw_affiliation_string":"Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","institution_ids":["https://openalex.org/I2800129641"]},{"raw_affiliation_string":"Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210156194"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025535213","display_name":"Guo\u2010Ping Shi","orcid":"https://orcid.org/0000-0001-5809-2567","observed_orcids":["https://orcid.org/0000-0001-5809-2567"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I2800129641","display_name":"Great Ormond Street Hospital","ror":"https://ror.org/00zn2c847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800129641","https://openalex.org/I2800349819"]},{"id":"https://openalex.org/I4210156194","display_name":"Addenbrooke's Hospital","ror":"https://ror.org/055vbxf86","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802466933","https://openalex.org/I4210156194"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Guo-Ping Shi","raw_affiliation_strings":["From the Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England; Pulmonary and Critical Care Medicine, Harvard Medical School, Brigham and Women's Hospital, Boston, MA; and Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England; Pulmonary and Critical Care Medicine, Harvard Medical School, Brigham and Women's Hospital, Boston, MA; and Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984","https://openalex.org/I241749","https://openalex.org/I2800129641","https://openalex.org/I4210156194"]},{"raw_affiliation_string":"Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","institution_ids":["https://openalex.org/I2800129641"]},{"raw_affiliation_string":"Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210156194"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110086900","display_name":"Elisabeth P. Young","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I2800129641","display_name":"Great Ormond Street Hospital","ror":"https://ror.org/00zn2c847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800129641","https://openalex.org/I2800349819"]},{"id":"https://openalex.org/I4210156194","display_name":"Addenbrooke's Hospital","ror":"https://ror.org/055vbxf86","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802466933","https://openalex.org/I4210156194"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Elisabeth Young","raw_affiliation_strings":["From the Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England; Pulmonary and Critical Care Medicine, Harvard Medical School, Brigham and Women's Hospital, Boston, MA; and Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England; Pulmonary and Critical Care Medicine, Harvard Medical School, Brigham and Women's Hospital, Boston, MA; and Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984","https://openalex.org/I241749","https://openalex.org/I2800129641","https://openalex.org/I4210156194"]},{"raw_affiliation_string":"Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","institution_ids":["https://openalex.org/I2800129641"]},{"raw_affiliation_string":"Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210156194"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5080995646","display_name":"Timothy Martin Cox","orcid":"https://orcid.org/0000-0002-4951-9941","observed_orcids":["https://orcid.org/0000-0002-4951-9941"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I2800129641","display_name":"Great Ormond Street Hospital","ror":"https://ror.org/00zn2c847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800129641","https://openalex.org/I2800349819"]},{"id":"https://openalex.org/I4210156194","display_name":"Addenbrooke's Hospital","ror":"https://ror.org/055vbxf86","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802466933","https://openalex.org/I4210156194"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Timothy M. Cox","raw_affiliation_strings":["From the Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England; Pulmonary and Critical Care Medicine, Harvard Medical School, Brigham and Women's Hospital, Boston, MA; and Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England; Pulmonary and Critical Care Medicine, Harvard Medical School, Brigham and Women's Hospital, Boston, MA; and Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984","https://openalex.org/I241749","https://openalex.org/I2800129641","https://openalex.org/I4210156194"]},{"raw_affiliation_string":"Chemical Pathology, Great Ormond Street Hospital NHS Trust, London, England","institution_ids":["https://openalex.org/I2800129641"]},{"raw_affiliation_string":"Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, England","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210156194"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":4.4806,"has_fulltext":false,"cited_by_count":152,"citation_normalized_percentile":{"value":0.94866828,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"96","issue":"5","first_page":"1969","last_page":"1978"},"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0008999999845400453,"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":0.0,"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/gaucher-disease","display_name":"Gaucher disease","score":0.9980000257492065},{"id":"https://openalex.org/keywords/cathepsin-k","display_name":"cathepsin K","score":0.8069999814033508},{"id":"https://openalex.org/keywords/cathepsin-b","display_name":"cathepsin B","score":0.996999979019165},{"id":"https://openalex.org/keywords/cathepsin-s","display_name":"cathepsin S","score":0.996999979019165},{"id":"https://openalex.org/keywords/cysteine-protease","display_name":"cysteine protease","score":0.9039999842643738},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.6460000276565552},{"id":"https://openalex.org/keywords/spleen-gene-expression","display_name":"spleen gene expression","score":0.7689999938011169},{"id":"https://openalex.org/keywords/enzyme-replacement-therapy","display_name":"enzyme replacement therapy","score":0.6850000023841858},{"id":"https://openalex.org/keywords/imiglucerase","display_name":"imiglucerase","score":0.996999979019165},{"id":"https://openalex.org/keywords/macrophages","display_name":"macrophages","score":0.6460000276565552}],"concepts":[{"id":"https://openalex.org/C51618164","wikidata":"https://www.wikidata.org/wiki/Q5052484","display_name":"Cathepsin H","level":4,"score":0.7071728706359863},{"id":"https://openalex.org/C167844969","wikidata":"https://www.wikidata.org/wiki/Q426245","display_name":"Cathepsin","level":3,"score":0.6941400766372681},{"id":"https://openalex.org/C145734084","wikidata":"https://www.wikidata.org/wiki/Q14902080","display_name":"Cathepsin C","level":4,"score":0.5961865782737732},{"id":"https://openalex.org/C34695024","wikidata":"https://www.wikidata.org/wiki/Q14902030","display_name":"Cathepsin O","level":4,"score":0.5938901305198669},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5902732610702515},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5890895128250122},{"id":"https://openalex.org/C151701858","wikidata":"https://www.wikidata.org/wiki/Q14902024","display_name":"Cathepsin S","level":4,"score":0.5478335618972778},{"id":"https://openalex.org/C28021979","wikidata":"https://www.wikidata.org/wiki/Q14911946","display_name":"Cathepsin B","level":3,"score":0.5052092671394348},{"id":"https://openalex.org/C2780931953","wikidata":"https://www.wikidata.org/wiki/Q9371","display_name":"Spleen","level":2,"score":0.48655977845191956},{"id":"https://openalex.org/C173633252","wikidata":"https://www.wikidata.org/wiki/Q3663475","display_name":"Cathepsin D","level":3,"score":0.46052369475364685},{"id":"https://openalex.org/C78553746","wikidata":"https://www.wikidata.org/wiki/Q423561","display_name":"Cathepsin A","level":4,"score":0.4537981450557709},{"id":"https://openalex.org/C101990758","wikidata":"https://www.wikidata.org/wiki/Q14902045","display_name":"Cathepsin K","level":4,"score":0.44339799880981445},{"id":"https://openalex.org/C2779994418","wikidata":"https://www.wikidata.org/wiki/Q3083126","display_name":"Glucocerebroside","level":4,"score":0.42742520570755005},{"id":"https://openalex.org/C2780674200","wikidata":"https://www.wikidata.org/wiki/Q420038","display_name":"Glucocerebrosidase","level":3,"score":0.375638484954834},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.26211076974868774},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.23841997981071472},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.22582316398620605},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.15916159749031067},{"id":"https://openalex.org/C2776033226","wikidata":"https://www.wikidata.org/wiki/Q828410","display_name":"Osteoclast","level":3,"score":0.0},{"id":"https://openalex.org/C202751555","wikidata":"https://www.wikidata.org/wiki/Q221681","display_name":"In vitro","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002401","descriptor_name":"Cathepsin B","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002403","descriptor_name":"Cathepsins","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D002403","descriptor_name":"Cathepsins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002403","descriptor_name":"Cathepsins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D003546","descriptor_name":"Cysteine Endopeptidases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003546","descriptor_name":"Cysteine Endopeptidases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005776","descriptor_name":"Gaucher Disease","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D005776","descriptor_name":"Gaucher Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005776","descriptor_name":"Gaucher Disease","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006867","descriptor_name":"Hydrolases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D007150","descriptor_name":"Immunohistochemistry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008856","descriptor_name":"Microscopy, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010010","descriptor_name":"Osteoclasts","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D013154","descriptor_name":"Spleen","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D013154","descriptor_name":"Spleen","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D014018","descriptor_name":"Tissue Distribution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015151","descriptor_name":"Immunoblotting","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015152","descriptor_name":"Blotting, Northern","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015854","descriptor_name":"Up-Regulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015971","descriptor_name":"Gene Expression Regulation, Enzymologic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016464","descriptor_name":"Lysosomal Storage Diseases","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D056657","descriptor_name":"Cathepsin K","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1182/blood.v96.5.1969","doi":"https://doi.org/10.1182/blood.v96.5.1969","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v96.5.1969","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","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":"Blood","raw_type":"journal-article"},{"id":"doi:10.1182/blood.v96.5.1969.h8001969_1969_1978","doi":"https://doi.org/10.1182/blood.v96.5.1969.h8001969_1969_1978","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v96.5.1969.h8001969_1969_1978","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","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":"Blood","raw_type":"journal-article"},{"id":"pmid:10961902","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10961902","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":"Blood","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8560000061988831,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":75,"referenced_works":["https://openalex.org/W181839745","https://openalex.org/W319055622","https://openalex.org/W564852975","https://openalex.org/W960919541","https://openalex.org/W1482788894","https://openalex.org/W1483242733","https://openalex.org/W1485810221","https://openalex.org/W1505216941","https://openalex.org/W1506802130","https://openalex.org/W1515227258","https://openalex.org/W1539142963","https://openalex.org/W1540571522","https://openalex.org/W1546994972","https://openalex.org/W1552333098","https://openalex.org/W1571380461","https://openalex.org/W1573082422","https://openalex.org/W1919579956","https://openalex.org/W1965771018","https://openalex.org/W1975456176","https://openalex.org/W1977522635","https://openalex.org/W1978132986","https://openalex.org/W1981725999","https://openalex.org/W1982921556","https://openalex.org/W1994641823","https://openalex.org/W1995827284","https://openalex.org/W2002029791","https://openalex.org/W2003827397","https://openalex.org/W2005778774","https://openalex.org/W2012617920","https://openalex.org/W2014669590","https://openalex.org/W2016377605","https://openalex.org/W2022281511","https://openalex.org/W2025062557","https://openalex.org/W2030498863","https://openalex.org/W2034295109","https://openalex.org/W2038422579","https://openalex.org/W2042034369","https://openalex.org/W2050725355","https://openalex.org/W2052593722","https://openalex.org/W2053490488","https://openalex.org/W2058616210","https://openalex.org/W2060757943","https://openalex.org/W2065778712","https://openalex.org/W2076942388","https://openalex.org/W2077868231","https://openalex.org/W2083106544","https://openalex.org/W2083294270","https://openalex.org/W2083781927","https://openalex.org/W2084779432","https://openalex.org/W2088191210","https://openalex.org/W2090299301","https://openalex.org/W2097084338","https://openalex.org/W2100837269","https://openalex.org/W2101108802","https://openalex.org/W2119427647","https://openalex.org/W2119474556","https://openalex.org/W2124663723","https://openalex.org/W2133111763","https://openalex.org/W2137264529","https://openalex.org/W2144456776","https://openalex.org/W2144634347","https://openalex.org/W2153156911","https://openalex.org/W2155008134","https://openalex.org/W2155044044","https://openalex.org/W2160793292","https://openalex.org/W2161115679","https://openalex.org/W2224929038","https://openalex.org/W2314225431","https://openalex.org/W2333911447","https://openalex.org/W2395236462","https://openalex.org/W2400119641","https://openalex.org/W2406443243","https://openalex.org/W3145894777","https://openalex.org/W3199593527","https://openalex.org/W6726636743"],"related_works":["https://openalex.org/W2073335664","https://openalex.org/W2963640683","https://openalex.org/W2912560977","https://openalex.org/W2114362599","https://openalex.org/W2165524553","https://openalex.org/W2238454575","https://openalex.org/W2062741690","https://openalex.org/W2418453240","https://openalex.org/W2606396179","https://openalex.org/W1971217129"],"abstract_inverted_index":{"Deficiency":[0],"of":[1,11,17,31,96,121,128,153,284,312,323,340],"lysosomal":[2,68,230],"acid":[3,77],"beta-glucosidase":[4],"induces":[5],"glycolipid":[6],"storage":[7,231],"in":[8,40,126,140,173,190,204,225,234,253,291,328,337,348],"the":[9,15,27,97,281,320,338,341],"macrophages":[10],"Gaucher":[12,47,63,129,144,175,205,254,293,349],"disease":[13,48,206,242,297],"but":[14,210,290],"pathways":[16],"multisystem":[18],"tissue":[19,317,330],"injury":[20],"and":[21,73,76,84,102,106,137,143,157,167,177,184,198],"destruction":[22],"are":[23],"unknown.":[24],"To":[25],"investigate":[26],"cognate":[28],"molecular":[29],"pathology":[30],"this":[32,335],"inflammatory":[33],"disorder,":[34],"genes":[35],"that":[36,343],"were":[37,51,160,201,222,248],"differentially":[38],"expressed":[39],"spleen":[41],"samples":[42,127],"from":[43,60,89],"a":[44,108],"patient":[45],"with":[46,212,228,237,257,295],"(Gaucher":[49],"spleen)":[50],"isolated.":[52],"Of":[53],"64":[54],"complementary":[55],"DNA":[56],"(cDNA)":[57],"fragments":[58],"sequenced":[59],"an":[61],"enriched":[62],"cDNA":[64],"library,":[65],"5":[66],"encode":[67,80],"proteins":[69],"(cathepsins":[70],"B,":[71,155,196],"K,":[72,156,197],"S,":[74],"alpha-fucosidase,":[75],"lipase),":[78],"10":[79],"other":[81,238,331],"known":[82],"proteins,":[83],"2":[85],"represent":[86],"novel":[87,99],"sequences":[88],"human":[90],"macrophage":[91],"cell":[92],"lines.":[93],"Transcript":[94],"abundance":[95],"cathepsins,":[98],"genes,":[100],"pulmonary":[101],"activation-regulated":[103],"chemokine":[104],"(PARC),":[105],"NMB,":[107],"putative":[109],"tumor":[110],"suppressor":[111],"gene,":[112],"was":[113],"greatly":[114],"increased.":[115],"Immunoblotting":[116],"showed":[117,133],"increased":[118,249,307],"mature":[119],"forms":[120],"all":[122,261],"3":[123,191,245,292],"cathepsins":[124],"found":[125],"spleens.":[130,193],"Immunofluorescence":[131],"microscopy":[132],"strong":[134],"cathepsin":[135,154,195,217,246,272,302,325],"B":[136,218],"K":[138,220,326],"reactions":[139],"sinusoidal":[141],"endothelium":[142],"cells.":[145],"The":[146],"respective":[147],"means,":[148],"plus":[149],"or":[150,233,306],"minus":[151],"SD,":[152],"S":[158,199],"activities":[159,200,221,247,273,286,303],"183":[161],"+/-":[162,165,169,179,182,186],"35,":[163],"97":[164],"39,":[166],"91":[168],"45":[170],"nmol/min/mg":[171,188],"protein":[172,189],"4":[174],"spleens,":[176],"26":[178],"4,":[180],"10.5":[181],"2,":[183],"4.0":[185],"2.1":[187],"control":[192,213,258],"Plasma":[194],"also":[202],"elevated":[203,224],"plasma":[207,214],"(P":[208,276],"<.001),":[209],"compared":[211,256],"samples,":[215],"neither":[216],"nor":[219],"significantly":[223,275],"8":[226],"patients":[227,236,263,294],"nonglycosphingolipid":[229],"diseases":[232],"9":[235],"glycosphingolipidoses,":[239],"which":[240],"suggests":[241],"specificity.":[243],"All":[244],"2-fold":[250],"to":[251],"3-fold":[252],"sera":[255],"sera.":[259],"In":[260],"6":[262],"treated":[264],"by":[265],"enzyme":[266],"replacement":[267],"for":[268],"16-22":[269],"months,":[270],"serum":[271,301],"decreased":[274],"<.01).":[277],"Longitudinal":[278],"studies":[279],"confirmed":[280],"progressive":[282],"reduction":[283],"proteinase":[285],"during":[287,308],"imiglucerase":[288],"therapy":[289],"mild":[296],"not":[298],"so":[299],"treated,":[300],"remained":[304],"constant":[305],"follow-up.":[309],"Enhanced":[310],"expression":[311,327],"cysteine":[313],"proteinases":[314],"may":[315],"promote":[316],"destruction.":[318],"Moreover,":[319],"first":[321],"identification":[322],"aberrant":[324],"hematopoietic":[329],"than":[332],"osteoclasts":[333],"implicates":[334],"protease":[336],"breakdown":[339],"matrix":[342],"characterizes":[344],"lytic":[345],"bone":[346],"lesions":[347],"disease.":[350],"(Blood.":[351],"2000;96:1969-1978)":[352]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":6},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":12},{"year":2014,"cited_by_count":9},{"year":2013,"cited_by_count":9},{"year":2012,"cited_by_count":6}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
