{"id":"https://openalex.org/W2170620150","doi":"https://doi.org/10.1093/hmg/ddu105","title":"Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice","display_name":"Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice","publication_year":2014,"publication_date":"2014-03-05","ids":{"openalex":"https://openalex.org/W2170620150","doi":"https://doi.org/10.1093/hmg/ddu105","mag":"2170620150","pmid":"https://pubmed.ncbi.nlm.nih.gov/24599400","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4082362"},"language":"en","primary_location":{"id":"doi:10.1093/hmg/ddu105","doi":"https://doi.org/10.1093/hmg/ddu105","is_oa":false,"landing_page_url":"https://doi.org/10.1093/hmg/ddu105","pdf_url":null,"source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4082362","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5057590021","display_name":"Yongping Xu","orcid":"https://orcid.org/0000-0002-3946-9223","observed_orcids":["https://orcid.org/0000-0002-3946-9223"]},"institutions":[{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]},{"id":"https://openalex.org/I92156820","display_name":"University of Cincinnati Medical Center","ror":"https://ror.org/02p72h367","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I92156820"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"You-hai Xu","raw_affiliation_strings":["The Division of Human Genetics and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","The Division of Human Genetics and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Division of Human Genetics and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","institution_ids":["https://openalex.org/I63135867"]},{"raw_affiliation_string":"Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","institution_ids":["https://openalex.org/I63135867","https://openalex.org/I92156820"]},{"raw_affiliation_string":"The Division of Human Genetics and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109447152","display_name":"Kui Xu","orcid":"https://orcid.org/0000-0001-6931-3070","observed_orcids":["https://orcid.org/0000-0001-6931-3070","https://orcid.org/0000-0001-7226-5479"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kui Xu","raw_affiliation_strings":["The Division of Human Genetics and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Division of Human Genetics and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077759846","display_name":"Ying Sun","orcid":"https://orcid.org/0000-0002-2979-4735","observed_orcids":["https://orcid.org/0000-0002-2979-4735","https://orcid.org/0009-0006-4839-299X"]},"institutions":[{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]},{"id":"https://openalex.org/I92156820","display_name":"University of Cincinnati Medical Center","ror":"https://ror.org/02p72h367","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I92156820"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ying Sun","raw_affiliation_strings":["The Division of Human Genetics and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","The Division of Human Genetics and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Division of Human Genetics and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","institution_ids":["https://openalex.org/I63135867"]},{"raw_affiliation_string":"Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","institution_ids":["https://openalex.org/I63135867","https://openalex.org/I92156820"]},{"raw_affiliation_string":"The Division of Human Genetics and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072692782","display_name":"Benjamin Liou","orcid":"https://orcid.org/0000-0003-4848-3964","observed_orcids":["https://orcid.org/0000-0003-4848-3964"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Benjamin Liou","raw_affiliation_strings":["The Division of Human Genetics and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Division of Human Genetics and","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Brian Quinn","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Brian Quinn","raw_affiliation_strings":["The Division of Human Genetics and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Division of Human Genetics and","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Rong-hua Li","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]},{"id":"https://openalex.org/I92156820","display_name":"University of Cincinnati Medical Center","ror":"https://ror.org/02p72h367","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I92156820"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rong-hua Li","raw_affiliation_strings":["The Division of Human Genetics and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","The Division of Human Genetics and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Division of Human Genetics and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","institution_ids":["https://openalex.org/I63135867"]},{"raw_affiliation_string":"Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","institution_ids":["https://openalex.org/I63135867","https://openalex.org/I92156820"]},{"raw_affiliation_string":"The Division of Human Genetics and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101548932","display_name":"Ling Xue","orcid":"https://orcid.org/0000-0002-0791-7925","observed_orcids":["https://orcid.org/0000-0002-0791-7925"]},"institutions":[{"id":"https://openalex.org/I27781120","display_name":"Wenzhou Medical University","ror":"https://ror.org/00rd5t069","country_code":"CN","type":"education","lineage":["https://openalex.org/I27781120"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Ling Xue","raw_affiliation_strings":["Attardi Institute of Mitochondrial Biomedicine, Wenzhou Medical College, Wenzhou, Zhejiang, PR China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Attardi Institute of Mitochondrial Biomedicine, Wenzhou Medical College, Wenzhou, Zhejiang, PR China","institution_ids":["https://openalex.org/I27781120"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036232450","display_name":"Wujuan Zhang","orcid":"https://orcid.org/0000-0002-2909-179X","observed_orcids":["https://orcid.org/0000-0002-2909-179X"]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wujuan Zhang","raw_affiliation_strings":["The Division of Pathology and Laboratory, Cincinnati Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Division of Pathology and Laboratory, Cincinnati Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA","institution_ids":["https://openalex.org/I1285204247"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036804110","display_name":"Kenneth D.R. Setchell","orcid":"https://orcid.org/0000-0001-9147-0136","observed_orcids":["https://orcid.org/0000-0001-9147-0136"]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]},{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]},{"id":"https://openalex.org/I92156820","display_name":"University of Cincinnati Medical Center","ror":"https://ror.org/02p72h367","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I92156820"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kenneth D.R. Setchell","raw_affiliation_strings":["The Division of Pathology and Laboratory, Cincinnati Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","The Division of Pathology and Laboratory, CincinnatiChildren's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Division of Pathology and Laboratory, Cincinnati Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","institution_ids":["https://openalex.org/I1285204247","https://openalex.org/I63135867"]},{"raw_affiliation_string":"Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","institution_ids":["https://openalex.org/I63135867","https://openalex.org/I92156820"]},{"raw_affiliation_string":"The Division of Pathology and Laboratory, CincinnatiChildren's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA","institution_ids":["https://openalex.org/I1285204247"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109916335","display_name":"David P. Witte","orcid":"https://orcid.org/0009-0004-7771-4148","observed_orcids":["https://orcid.org/0009-0004-7771-4148"]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]},{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]},{"id":"https://openalex.org/I92156820","display_name":"University of Cincinnati Medical Center","ror":"https://ror.org/02p72h367","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I92156820"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David Witte","raw_affiliation_strings":["The Division of Pathology and Laboratory, Cincinnati Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","The Division of Pathology and Laboratory, CincinnatiChildren's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Division of Pathology and Laboratory, Cincinnati Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","institution_ids":["https://openalex.org/I1285204247","https://openalex.org/I63135867"]},{"raw_affiliation_string":"Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","institution_ids":["https://openalex.org/I63135867","https://openalex.org/I92156820"]},{"raw_affiliation_string":"The Division of Pathology and Laboratory, CincinnatiChildren's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA","institution_ids":["https://openalex.org/I1285204247"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5102975961","display_name":"Gregory Alex Grabowski","orcid":"https://orcid.org/0000-0002-2437-9487","observed_orcids":["https://orcid.org/0000-0002-2437-9487"]},"institutions":[{"id":"https://openalex.org/I4210122397","display_name":"Synageva BioPharma (United States)","ror":"https://ror.org/0310bxj37","country_code":"US","type":"company","lineage":["https://openalex.org/I4210122397"]},{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]},{"id":"https://openalex.org/I92156820","display_name":"University of Cincinnati Medical Center","ror":"https://ror.org/02p72h367","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I92156820"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Gregory A. Grabowski","raw_affiliation_strings":["The Division of Human Genetics and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA Synageva BioPharma, Lexington, MA 02421, USA gregory.grabowski@synageva.com","Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","Synageva BioPharma, Lexington, MA 02421, USA","The Division of Human Genetics and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Division of Human Genetics and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA Synageva BioPharma, Lexington, MA 02421, USA gregory.grabowski@synageva.com","institution_ids":["https://openalex.org/I4210122397","https://openalex.org/I63135867"]},{"raw_affiliation_string":"Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA","institution_ids":["https://openalex.org/I63135867","https://openalex.org/I92156820"]},{"raw_affiliation_string":"Synageva BioPharma, Lexington, MA 02421, USA","institution_ids":["https://openalex.org/I4210122397"]},{"raw_affiliation_string":"The Division of Human Genetics and","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5102975961"],"corresponding_institution_ids":["https://openalex.org/I4210122397","https://openalex.org/I63135867","https://openalex.org/I92156820"],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":null,"fwci":7.5306,"has_fulltext":false,"cited_by_count":89,"citation_normalized_percentile":{"value":0.9790224,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":94,"max":99},"biblio":{"volume":"23","issue":"15","first_page":"3943","last_page":"3957"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0005000000237487257,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/neuronopathic-gaucher-disease","display_name":"neuronopathic Gaucher disease","score":0.9890000224113464},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.902999997138977},{"id":"https://openalex.org/keywords/glucocerebrosidase","display_name":"glucocerebrosidase","score":0.8579999804496765},{"id":"https://openalex.org/keywords/glucosylceramide-accumulation","display_name":"glucosylceramide accumulation","score":0.902999997138977},{"id":"https://openalex.org/keywords/amyloid-precursor-protein","display_name":"amyloid precursor protein","score":0.7139999866485596},{"id":"https://openalex.org/keywords/amyloid-beta","display_name":"amyloid-beta","score":0.8659999966621399},{"id":"https://openalex.org/keywords/alpha-synuclein-aggregation","display_name":"alpha-synuclein aggregation","score":0.8870000243186951},{"id":"https://openalex.org/keywords/mitochondrial-dysfunction","display_name":"mitochondrial dysfunction","score":0.7509999871253967},{"id":"https://openalex.org/keywords/conduritol-b-epoxide","display_name":"conduritol B epoxide","score":0.9509999752044678},{"id":"https://openalex.org/keywords/neurodegeneration","display_name":"neurodegeneration","score":0.7639999985694885},{"id":"https://openalex.org/keywords/autophagy","display_name":"autophagy","score":0.6850000023841858},{"id":"https://openalex.org/keywords/lysosomes","display_name":"lysosomes","score":0.5299999713897705},{"id":"https://openalex.org/keywords/brain-mitochondria","display_name":"brain mitochondria","score":0.47999998927116394},{"id":"https://openalex.org/keywords/cerebral-cortex","display_name":"cerebral cortex","score":0.31700000166893005}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7693243622779846},{"id":"https://openalex.org/C175344181","wikidata":"https://www.wikidata.org/wiki/Q907198","display_name":"Presenilin","level":4,"score":0.6275309324264526},{"id":"https://openalex.org/C28859421","wikidata":"https://www.wikidata.org/wiki/Q39572","display_name":"Mitochondrion","level":2,"score":0.5824944972991943},{"id":"https://openalex.org/C203522944","wikidata":"https://www.wikidata.org/wiki/Q288322","display_name":"Autophagy","level":3,"score":0.5138452649116516},{"id":"https://openalex.org/C2777135640","wikidata":"https://www.wikidata.org/wiki/Q18028463","display_name":"LAMP1","level":4,"score":0.46475544571876526},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.3856654465198517},{"id":"https://openalex.org/C502032728","wikidata":"https://www.wikidata.org/wiki/Q11081","display_name":"Alzheimer's disease","level":3,"score":0.3395059108734131},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.32658851146698},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.24785694479942322},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.22653505206108093},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.21185263991355896},{"id":"https://openalex.org/C190283241","wikidata":"https://www.wikidata.org/wiki/Q14599311","display_name":"Apoptosis","level":2,"score":0.09690698981285095},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001617","descriptor_name":"beta-Glucosidase","qualifier_ui":"Q000037","qualifier_name":"antagonists & inhibitors","is_major_topic":false},{"descriptor_ui":"D001617","descriptor_name":"beta-Glucosidase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001617","descriptor_name":"beta-Glucosidase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002540","descriptor_name":"Cerebral Cortex","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002540","descriptor_name":"Cerebral Cortex","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D003342","descriptor_name":"Corpus Striatum","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D003342","descriptor_name":"Corpus Striatum","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D004195","descriptor_name":"Disease Models, Animal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004791","descriptor_name":"Enzyme Inhibitors","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D005776","descriptor_name":"Gaucher Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005776","descriptor_name":"Gaucher Disease","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005776","descriptor_name":"Gaucher Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005786","descriptor_name":"Gene Expression Regulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006624","descriptor_name":"Hippocampus","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006624","descriptor_name":"Hippocampus","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007294","descriptor_name":"Inositol","qualifier_ui":"Q000031","qualifier_name":"analogs & derivatives","is_major_topic":false},{"descriptor_ui":"D007294","descriptor_name":"Inositol","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D008869","descriptor_name":"Microtubule-Associated Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008869","descriptor_name":"Microtubule-Associated Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008928","descriptor_name":"Mitochondria","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D008928","descriptor_name":"Mitochondria","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009474","descriptor_name":"Neurons","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D009474","descriptor_name":"Neurons","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D011451","descriptor_name":"Prostaglandin-Endoperoxide Synthases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011451","descriptor_name":"Prostaglandin-Endoperoxide Synthases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D013378","descriptor_name":"Substantia Nigra","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D013378","descriptor_name":"Substantia Nigra","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D016564","descriptor_name":"Amyloid beta-Protein Precursor","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016564","descriptor_name":"Amyloid beta-Protein Precursor","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D024101","descriptor_name":"Mitochondrial Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D024101","descriptor_name":"Mitochondrial Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D026901","descriptor_name":"Membrane Transport Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D026901","descriptor_name":"Membrane Transport Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051844","descriptor_name":"alpha-Synuclein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051844","descriptor_name":"alpha-Synuclein","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D051907","descriptor_name":"Lysosomal Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051907","descriptor_name":"Lysosomal Membrane Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D052118","descriptor_name":"Lysosomal-Associated Membrane Protein 1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D066263","descriptor_name":"Protein Aggregation, Pathological","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1093/hmg/ddu105","doi":"https://doi.org/10.1093/hmg/ddu105","is_oa":false,"landing_page_url":"https://doi.org/10.1093/hmg/ddu105","pdf_url":null,"source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4082362","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4082362","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hum Mol Genet","raw_type":"Text"},{"id":"pmid:24599400","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24599400","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":"Human molecular genetics","raw_type":"Journal Article"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:4082362","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4082362","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hum Mol Genet","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9763000011444092,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","score":0.4300000071525574,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1311218160","display_name":"Studies of Gaucher Disease: A Prototype Lipidosis","funder_award_id":"R01DK036729","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G2091647836","display_name":null,"funder_award_id":"DK36729","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"}],"funders":[{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":97,"referenced_works":["https://openalex.org/W1919353","https://openalex.org/W126348829","https://openalex.org/W190891721","https://openalex.org/W1484728533","https://openalex.org/W1522048223","https://openalex.org/W1540698875","https://openalex.org/W1578015555","https://openalex.org/W1676679464","https://openalex.org/W1965229261","https://openalex.org/W1971616282","https://openalex.org/W1972914780","https://openalex.org/W1973570510","https://openalex.org/W1973738022","https://openalex.org/W1973752139","https://openalex.org/W1978336098","https://openalex.org/W1982224533","https://openalex.org/W1985103442","https://openalex.org/W1985667235","https://openalex.org/W1988839744","https://openalex.org/W1989812344","https://openalex.org/W1990974805","https://openalex.org/W1996310347","https://openalex.org/W1997101343","https://openalex.org/W2001093038","https://openalex.org/W2003681003","https://openalex.org/W2004220922","https://openalex.org/W2007671889","https://openalex.org/W2010708131","https://openalex.org/W2012878612","https://openalex.org/W2015508794","https://openalex.org/W2015522247","https://openalex.org/W2018654841","https://openalex.org/W2019895460","https://openalex.org/W2022245282","https://openalex.org/W2022514181","https://openalex.org/W2024668613","https://openalex.org/W2025027091","https://openalex.org/W2031365272","https://openalex.org/W2032417358","https://openalex.org/W2034192349","https://openalex.org/W2035787181","https://openalex.org/W2039649288","https://openalex.org/W2039884825","https://openalex.org/W2041293010","https://openalex.org/W2041740325","https://openalex.org/W2043822937","https://openalex.org/W2046847750","https://openalex.org/W2047026920","https://openalex.org/W2050922537","https://openalex.org/W2055339952","https://openalex.org/W2055445325","https://openalex.org/W2059704696","https://openalex.org/W2064963539","https://openalex.org/W2066155243","https://openalex.org/W2069159417","https://openalex.org/W2071494035","https://openalex.org/W2071803058","https://openalex.org/W2072453593","https://openalex.org/W2076241970","https://openalex.org/W2077868231","https://openalex.org/W2079333946","https://openalex.org/W2082307109","https://openalex.org/W2085481317","https://openalex.org/W2087968969","https://openalex.org/W2088198588","https://openalex.org/W2093458088","https://openalex.org/W2094148780","https://openalex.org/W2095285166","https://openalex.org/W2095918603","https://openalex.org/W2103024032","https://openalex.org/W2108560309","https://openalex.org/W2111414950","https://openalex.org/W2111464898","https://openalex.org/W2121194974","https://openalex.org/W2124955411","https://openalex.org/W2126204990","https://openalex.org/W2127513771","https://openalex.org/W2127529685","https://openalex.org/W2128101513","https://openalex.org/W2131710583","https://openalex.org/W2132988134","https://openalex.org/W2136125753","https://openalex.org/W2137300912","https://openalex.org/W2143582172","https://openalex.org/W2144522321","https://openalex.org/W2144555562","https://openalex.org/W2150241866","https://openalex.org/W2152538485","https://openalex.org/W2162925265","https://openalex.org/W2163635263","https://openalex.org/W2163757074","https://openalex.org/W2165427528","https://openalex.org/W2165995699","https://openalex.org/W2166973588","https://openalex.org/W2396080634","https://openalex.org/W2976342299","https://openalex.org/W6806206080"],"related_works":["https://openalex.org/W1990974805","https://openalex.org/W1799409770","https://openalex.org/W2151402740","https://openalex.org/W2911992558","https://openalex.org/W2057979657","https://openalex.org/W2025373151","https://openalex.org/W2148810030","https://openalex.org/W2006380359","https://openalex.org/W2181232066","https://openalex.org/W2031365272"],"abstract_inverted_index":{"Gaucher":[0,48,67,103],"disease,":[1],"a":[2,44,86,157],"prevalent":[3],"lysosomal":[4,168],"storage":[5],"disease":[6,68,104],"(LSD),":[7],"is":[8],"caused":[9],"by":[10],"insufficient":[11],"activity":[12],"of":[13,57,66,75,100,113,129,146,192,210],"acid":[14],"\u03b2-glucosidase":[15],"(GCase)":[16],"and":[17,29,36,40,49,54,70,107,115,126,139,154,166,189,199,215,224,235,244,249],"the":[18,30,64,98,122,130,150,162,167,178,186,190,245],"resultant":[19],"glucosylceramide":[20],"(GC)/glucosylsphingosine":[21],"(GS)":[22],"accumulation":[23,191,237],"in":[24,63,89,97,121,136,202,221,225,251],"visceral":[25],"organs":[26],"(Type":[27],"1)":[28],"central":[31],"nervous":[32],"system":[33],"(Types":[34],"2":[35],"3).":[37],"Recent":[38],"clinical":[39],"genetic":[41],"studies":[42,195,230],"implicate":[43,231],"pathogenic":[45,83],"link":[46],"between":[47],"neurodegenerative":[50,90],"diseases.":[51,91],"The":[52],"aggregation":[53,188],"inclusion":[55],"bodies":[56],"\u03b1-synuclein":[58,79,142],"with":[59,141,149,161],"ubiquitin":[60],"are":[61,95],"present":[62],"brains":[65,223],"patients":[69],"mouse":[71],"models.":[72],"Indirect":[73],"evidence":[74],"\u03b2-amyloid":[76,114],"pathology":[77],"promoting":[78],"fibrillation":[80],"supports":[81],"these":[82],"proteins":[84,94],"as":[85,238],"common":[87],"feature":[88],"Here,":[92],"multiple":[93],"implicated":[96],"pathogenesis":[99],"chronic":[101],"neuronopathic":[102],"(nGD).":[105],"Immunohistochemical":[106],"biochemical":[108],"analyses":[109],"showed":[110,196],"significant":[111],"amounts":[112],"amyloid":[116],"precursor":[117],"protein":[118],"(APP)":[119],"aggregates":[120,134],"cortex,":[123],"hippocampus,":[124],"stratum":[125],"substantia":[127],"nigra":[128],"nGD":[131,203,222],"mice.":[132],"APP":[133,147],"were":[135,219],"neuronal":[137],"cells":[138],"colocalized":[140],"signals.":[143],"A":[144],"majority":[145],"co-localized":[148,160],"mitochondrial":[151,211,242],"markers":[152],"TOM40":[153],"Cox":[155],"IV;":[156],"small":[158],"portion":[159],"autophagy":[163],"proteins,":[164],"P62/LC3,":[165],"marker,":[169],"LAMP1.":[170],"In":[171],"cultured":[172],"wild-type":[173],"brain":[174],"cortical":[175,205],"neural":[176,206,227],"cells,":[177],"GCase-irreversible":[179],"inhibitor,":[180],"conduritol":[181],"B":[182],"epoxide":[183],"(CBE),":[184],"reproduced":[185],"APP/\u03b1-synuclein":[187],"GC/GS.":[193],"Ultrastructural":[194],"numerous":[197],"larger-sized":[198],"electron-dense":[200],"mitochondria":[201],"cerebral":[204],"cells.":[207,228],"Significant":[208],"reductions":[209],"adenosine":[212],"triphosphate":[213],"production":[214],"oxygen":[216],"consumption":[217],"(28-40%)":[218],"detected":[220],"CBE-treated":[226],"These":[229],"defective":[232],"GCase":[233],"function":[234],"GC/GS":[236],"risk":[239],"factors":[240],"for":[241],"dysfunction":[243],"multi-proteinopathies":[246],"(\u03b1-synuclein-,":[247],"APP-":[248],"A\u03b2-aggregates)":[250],"nGD.":[252]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":10},{"year":2021,"cited_by_count":7},{"year":2020,"cited_by_count":9},{"year":2019,"cited_by_count":7},{"year":2018,"cited_by_count":8},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":12},{"year":2015,"cited_by_count":11},{"year":2014,"cited_by_count":4}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
