{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,12]],"date-time":"2026-11-12T17:40:20Z","timestamp":1794505220349,"version":"4.9.1"},"reference-count":173,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,4,19]],"date-time":"2023-04-19T00:00:00Z","timestamp":1681862400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Pharmacology &amp; Therapeutics"],"published-print":{"date-parts":[[2023,6]]},"DOI":"10.1016\/j.pharmthera.2023.108419","type":"journal-article","created":{"date-parts":[[2023,4,18]],"date-time":"2023-04-18T20:33:43Z","timestamp":1681850023000},"page":"108419","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":73,"special_numbering":"C","title":["Targeting the GBA1 pathway to slow Parkinson disease: Insights into clinical aspects, pathogenic mechanisms and new therapeutic avenues"],"prefix":"10.1016","volume":"246","author":[{"given":"Elisa","family":"Menozzi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Toffoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony H.V.","family":"Schapira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.pharmthera.2023.108419_bb0005","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1002\/mds.25729","article-title":"Altered ceramide acyl chain length and ceramide synthase gene expression in Parkinson\u2019s disease","volume":"29","author":"Abbott","year":"2014","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0010","doi-asserted-by":"crossref","first-page":"7441","DOI":"10.1523\/JNEUROSCI.0636-16.2016","article-title":"A new glucocerebrosidase chaperone reduces alpha-synuclein and glycolipid levels in iPSC-derived dopaminergic neurons from patients with Gaucher Disease and Parkinsonism","volume":"36","author":"Aflaki","year":"2016","journal-title":"The Journal of Neuroscience"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0015","doi-asserted-by":"crossref","first-page":"2648","DOI":"10.1093\/brain\/awv179","article-title":"Glucocerebrosidase activity in Parkinson\u2019s disease with and without GBA mutations","volume":"138","author":"Alcalay","year":"2015","journal-title":"Brain"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0020","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.bcmd.2003.10.010","article-title":"Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients","volume":"32","author":"Alfonso","year":"2004","journal-title":"Blood Cells, Molecules & Diseases"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0025","doi-asserted-by":"crossref","first-page":"1464","DOI":"10.1001\/archneurol.2010.198","article-title":"Chaperone-mediated autophagy markers in Parkinson disease brains","volume":"67","author":"Alvarez-Erviti","year":"2010","journal-title":"Archives of Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0030","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1212\/WNL.0b013e318245f476","article-title":"Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers","volume":"78","author":"Anheim","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0035","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1002\/mds.28496","article-title":"Profiling the biochemical signature of GBA-Related Parkinson\u2019s disease in peripheral blood mononuclear cells","volume":"36","author":"Avenali","year":"2021","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0040","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.nbd.2019.01.023","article-title":"Insights into GBA Parkinson's disease pathology and therapy with induced pluripotent stem cell model systems","volume":"127","author":"Baden","year":"2019","journal-title":"Neurobiology of Disease"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0045","article-title":"Statin use and the risk of Parkinson's Disease: An updated meta-analysis","volume":"11","author":"Bai","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0050","doi-asserted-by":"crossref","first-page":"1464","DOI":"10.1056\/NEJM199105233242104","article-title":"Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher\u2019s disease","volume":"324","author":"Barton","year":"1991","journal-title":"The New England Journal of Medicine"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0055","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1111\/j.1471-4159.2010.07143.x","article-title":"Induction of the unfolded protein response by alpha-synuclein in experimental models of Parkinson's disease","volume":"116","author":"Bellucci","year":"2011","journal-title":"Journal of Neurochemistry"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0060","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.bcmd.2010.10.012","article-title":"Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant","volume":"46","author":"Bendikov-Bar","year":"2011","journal-title":"Blood Cells, Molecules & Diseases"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0065","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1002\/mds.27583","article-title":"Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine","volume":"34","author":"Blandini","year":"2019","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0070","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1111\/jnc.15136","article-title":"Substrate reduction therapy using Genz-667161 reduces levels of pathogenic components in a mouse model of neuronopathic forms of Gaucher disease","volume":"156","author":"Blumenreich","year":"2021","journal-title":"Journal of Neurochemistry"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0075","doi-asserted-by":"crossref","first-page":"S281","DOI":"10.3233\/JPD-191721","article-title":"Brain-first versus gut-first Parkinson's Disease: A hypothesis","volume":"9","author":"Borghammer","year":"2019","journal-title":"Journal of Parkinson's Disease"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0080","doi-asserted-by":"crossref","first-page":"883","DOI":"10.3389\/fphar.2019.00883","article-title":"Ambroxol hydrochloride improves motor functions and extends survival in a mouse model of familial amyotrophic lateral sclerosis","volume":"10","author":"Bouscary","year":"2019","journal-title":"Frontiers in Pharmacology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0085","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1212\/WNL.0b013e318225ab77","article-title":"GBA-associated PD presents with nonmotor characteristics","volume":"77","author":"Brockmann","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0090","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1002\/mds.26071","article-title":"GBA-associated Parkinson\u2019s disease: Reduced survival and more rapid progression in a prospective longitudinal study","volume":"30","author":"Brockmann","year":"2015","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0095","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.148649","article-title":"Direct targeting of wild-type glucocerebrosidase by antipsychotic quetiapine improves pathogenic phenotypes in Parkinson\u2019s disease models","volume":"6","author":"Burbulla","year":"2021","journal-title":"JCI Insight"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0100","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1080\/14728222.2018.1517156","article-title":"Chaperone-mediated autophagy as a therapeutic target for Parkinson disease","volume":"22","author":"Campbell","year":"2018","journal-title":"Expert Opinion on Therapeutic Targets"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0105","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1038\/s41593-020-0589-7","article-title":"Gut-seeded alpha-synuclein fibrils promote gut dysfunction and brain pathology specifically in aged mice","volume":"23","author":"Challis","year":"2020","journal-title":"Nature Neuroscience"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0110","doi-asserted-by":"crossref","first-page":"2046","DOI":"10.1002\/mds.28191","article-title":"Evaluating the role of SNCA, LRRK2, and GBA in Chinese patients with early-onset Parkinson's Disease","volume":"35","author":"Chen","year":"2020","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0115","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1002\/ana.21995","article-title":"Clinical progression in Parkinson disease and the neurobiology of axons","volume":"67","author":"Cheng","year":"2010","journal-title":"Annals of Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0120","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/s13024-015-0010-2","article-title":"Selective loss of glucocerebrosidase activity in sporadic Parkinson\u2019s disease and dementia with Lewy bodies","volume":"10","author":"Chiasserini","year":"2015","journal-title":"Molecular Neurodegeneration"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0125","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1002\/ana.24777","article-title":"Survival and dementia in GBA-associated Parkinson\u2019s disease: The mutation matters","volume":"80","author":"Cilia","year":"2016","journal-title":"Annals of Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0130","doi-asserted-by":"crossref","first-page":"3306","DOI":"10.1523\/JNEUROSCI.5367-11.2012","article-title":"Endoplasmic reticulum stress is important for the manifestations of alpha-synucleinopathy in vivo","volume":"32","author":"Colla","year":"2012","journal-title":"The Journal of Neuroscience"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0140","doi-asserted-by":"crossref","first-page":"12535","DOI":"10.1523\/JNEUROSCI.1920-10.2010","article-title":"Pathogenic lysosomal depletion in Parkinson's disease","volume":"30","author":"Dehay","year":"2010","journal-title":"The Journal of Neuroscience"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0145","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/s13024-019-0336-2","article-title":"Glucocerebrosidase and its relevance to Parkinson disease","volume":"14","author":"Do","year":"2019","journal-title":"Molecular Neurodegeneration"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0150","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1001\/jamaneurol.2017.3299","article-title":"The parkinson pandemic-a call to action","volume":"75","author":"Dorsey","year":"2018","journal-title":"JAMA Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0155","doi-asserted-by":"crossref","first-page":"S3","DOI":"10.3233\/JPD-181474","article-title":"The emerging evidence of the Parkinson Pandemic","volume":"8","author":"Dorsey","year":"2018","journal-title":"Journal of Parkinson\u2019s Disease"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0160","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1212\/01.wnl.0000341769.50075.bb","article-title":"Incidence and remaining lifetime risk of Parkinson disease in advanced age","volume":"72","author":"Driver","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0165","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1038\/sj.embor.embor873","article-title":"X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease","volume":"4","author":"Dvir","year":"2003","journal-title":"EMBO Reports"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0170","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/S0895-4356(01)00425-5","article-title":"Risk tables for parkinsonism and Parkinson\u2019s disease","volume":"55","author":"Elbaz","year":"2002","journal-title":"Journal of Clinical Epidemiology"},{"issue":"1001\u20131014","key":"10.1016\/j.pharmthera.2023.108419_bb0175","article-title":"Lipidomic Analysis of alpha-Synuclein Neurotoxicity identifies Stearoyl CoA desaturase as a target for Parkinson treatment","volume":"73","author":"Fanning","year":"2019","journal-title":"Molecular Cell"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0180","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1016\/j.stemcr.2016.01.013","article-title":"ER stress and autophagic perturbations lead to elevated extracellular alpha-Synuclein in GBA-N370S Parkinson\u2019s iPSC-Derived Dopamine Neurons","volume":"6","author":"Fernandes","year":"2016","journal-title":"Stem Cell Reports"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0185","doi-asserted-by":"crossref","first-page":"433","DOI":"10.3233\/JPD-171103","article-title":"The role of lipids interacting with alpha-Synuclein in the Pathogenesis of Parkinson's disease","volume":"7","author":"Galvagnion","year":"2017","journal-title":"Journal of Parkinson's Disease"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0190","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1093\/brain\/awab371","article-title":"Sphingolipid changes in Parkinson L444P GBA mutation fibroblasts promote alpha-synuclein aggregation","volume":"145","author":"Galvagnion","year":"2022","journal-title":"Brain"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0195","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1212\/WNL.0000000000001315","article-title":"Differential effects of severe vs mild GBA mutations on Parkinson disease","volume":"84","author":"Gan-Or","year":"2015","journal-title":"Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0200","doi-asserted-by":"crossref","first-page":"1409","DOI":"10.1002\/mds.27119","article-title":"N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson\u2019s disease","volume":"32","author":"Garcia-Sanz","year":"2017","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0205","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1080\/15548627.2018.1427396","article-title":"Cholesterol and multilamellar bodies: Lysosomal dysfunction in GBA-Parkinson disease","volume":"14","author":"Garcia-Sanz","year":"2018","journal-title":"Autophagy"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0210","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1002\/ana.23614","article-title":"Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains","volume":"72","author":"Gegg","year":"2012","journal-title":"Annals of Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0215","doi-asserted-by":"crossref","DOI":"10.1016\/j.nbd.2022.105663","article-title":"Glucocerebrosidase-associated Parkinson disease: Pathogenic mechanisms and potential drug treatments","volume":"166","author":"Gegg","year":"2022","journal-title":"Neurobiology of Disease"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0220","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1002\/mds.26278","article-title":"No evidence for substrate accumulation in Parkinson brains with GBA mutations","volume":"30","author":"Gegg","year":"2015","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0225","doi-asserted-by":"crossref","first-page":"1716","DOI":"10.1093\/hmg\/ddaa085","article-title":"Glucocerebrosidase deficiency promotes release of alpha-synuclein fibrils from cultured neurons","volume":"29","author":"Gegg","year":"2020","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0230","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1002\/mds.28935","article-title":"No evidence that Glucosylsphingosine is a biomarker for Parkinson's disease: Statistical differences do not necessarily indicate biological significance","volume":"37","author":"Gleason","year":"2022","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0235","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1136\/jmg.2004.024455","article-title":"Parkinsonism among Gaucher disease carriers","volume":"41","author":"Goker-Alpan","year":"2004","journal-title":"Journal of Medical Genetics"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0240","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0029861","article-title":"High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase","volume":"7","author":"Goldin","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0245","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1016\/S0140-6736(08)61522-6","article-title":"Phenotype, diagnosis, and treatment of Gaucher\u2019s disease","volume":"372","author":"Grabowski","year":"2008","journal-title":"Lancet"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0250","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1172\/JCI5168","article-title":"Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease","volume":"103","author":"Grace","year":"1999","journal-title":"The Journal of Clinical Investigation"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0255","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1002\/mds.28996","article-title":"Increased stroke risk in patients with Parkinson\u2019s disease with LRRK2 mutations","volume":"37","author":"Grisanti","year":"2022","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0260","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.parkreldis.2017.08.026","article-title":"Serum lipid alterations in GBA-associated Parkinson\u2019s disease","volume":"44","author":"Guedes","year":"2017","journal-title":"Parkinsonism & Related Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0265","doi-asserted-by":"crossref","first-page":"838","DOI":"10.3109\/00207454.2014.979288","article-title":"The serum lipid profile of Parkinson\u2019s disease patients: A study from China","volume":"125","author":"Guo","year":"2015","journal-title":"The International Journal of Neuroscience"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0270","doi-asserted-by":"crossref","first-page":"3561","DOI":"10.1111\/bcp.14772","article-title":"A randomized single and multiple ascending dose study in healthy volunteers of LTI-291, a centrally penetrant glucocerebrosidase activator","volume":"87","author":"den Heijer","year":"2021","journal-title":"British Journal of Clinical Pharmacology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0275","doi-asserted-by":"crossref","first-page":"4441","DOI":"10.1093\/hmg\/ddx331","article-title":"Alpha-synuclein induces the unfolded protein response in Parkinson\u2019s disease SNCA triplication iPSC-derived neurons","volume":"26","author":"Heman-Ackah","year":"2017","journal-title":"Human Molecular Genetics"},{"issue":"822\u2013836","key":"10.1016\/j.pharmthera.2023.108419_bb0280","article-title":"Glucocerebrosidase activity modulates neuronal susceptibility to pathological alpha-synuclein insult","volume":"105","author":"Henderson","year":"2020","journal-title":"Neuron"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0285","doi-asserted-by":"crossref","first-page":"2810","DOI":"10.1073\/pnas.68.11.2810","article-title":"Gaucher\u2019s disease: Deficiency of \u201cacid\u201d -glucosidase and reconstitution of enzyme activity in vitro","volume":"68","author":"Ho","year":"1971","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0290","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/0888-7543(89)90319-4","article-title":"The human glucocerebrosidase gene and pseudogene: Structure and evolution","volume":"4","author":"Horowitz","year":"1989","journal-title":"Genomics"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0295","doi-asserted-by":"crossref","first-page":"1972","DOI":"10.1212\/01.wnl.0000312511.62699.a8","article-title":"Total cholesterol and the risk of Parkinson disease","volume":"70","author":"Hu","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0300","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/s40035-022-00294-1","article-title":"Genetic heterogeneity on sleep disorders in Parkinson's disease: A systematic review and meta-analysis","volume":"11","author":"Huang","year":"2022","journal-title":"Transl Neurodegener"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0305","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/s13024-019-0339-z","article-title":"Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson\u2019s disease","volume":"14","author":"Huebecker","year":"2019","journal-title":"Molecular Neurodegeneration"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0310","doi-asserted-by":"crossref","first-page":"e685","DOI":"10.1212\/WNL.0000000000009989","article-title":"beta-Glucocerebrosidase activity in GBA-linked Parkinson disease: The type of mutation matters","volume":"95","author":"Huh","year":"2020","journal-title":"Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0315","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.ebiom.2016.10.010","article-title":"Progranulin recruits HSP70 to beta-Glucocerebrosidase and is therapeutic against Gaucher Disease","volume":"13","author":"Jian","year":"2016","journal-title":"EBioMedicine"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0320","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.ebiom.2016.08.004","article-title":"Association between Progranulin and Gaucher Disease","volume":"11","author":"Jian","year":"2016","journal-title":"EBioMedicine"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0325","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1002\/ana.26166","article-title":"Lewy body-like inclusions in human midbrain organoids carrying glucocerebrosidase and alpha-synuclein mutations","volume":"90","author":"Jo","year":"2021","journal-title":"Annals of Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0330","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1080\/14789450.2016.1174583","article-title":"Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease","volume":"13","author":"Jung","year":"2016","journal-title":"Expert Review of Proteomics"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0335","doi-asserted-by":"crossref","first-page":"6640","DOI":"10.1093\/hmg\/ddv369","article-title":"Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death","volume":"24","author":"Keatinge","year":"2015","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0340","doi-asserted-by":"crossref","first-page":"1618","DOI":"10.1111\/j.1742-4658.2010.07588.x","article-title":"The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase","volume":"277","author":"Khanna","year":"2010","journal-title":"The FEBS Journal"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0345","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.ceca.2015.11.002","article-title":"Endoplasmic reticulum and lysosomal Ca(2)(+) stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts","volume":"59","author":"Kilpatrick","year":"2016","journal-title":"Cell Calcium"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0350","doi-asserted-by":"crossref","first-page":"1972","DOI":"10.1093\/hmg\/ddy105","article-title":"Acid ceramidase inhibition ameliorates alpha-synuclein accumulation upon loss of GBA1 function","volume":"27","author":"Kim","year":"2018","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0355","doi-asserted-by":"crossref","first-page":"2424","DOI":"10.1093\/hmg\/ddac047","article-title":"Lysosomal ceramides regulate cathepsin B-mediated processing of saposin C and glucocerebrosidase activity","volume":"31","author":"Kim","year":"2022","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0360","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1136\/jmedgenet-2019-106132","article-title":"Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy","volume":"57","author":"Kim","year":"2020","journal-title":"Journal of Medical Genetics"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0365","doi-asserted-by":"crossref","first-page":"11654","DOI":"10.1523\/JNEUROSCI.4527-15.2016","article-title":"A drosophila model of neuronopathic Gaucher Disease demonstrates lysosomal-autophagic defects and altered mTOR signalling and is functionally rescued by Rapamycin","volume":"36","author":"Kinghorn","year":"2016","journal-title":"The Journal of Neuroscience"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0370","doi-asserted-by":"crossref","first-page":"1822","DOI":"10.1002\/mds.28186","article-title":"High Glucosylceramides and low Anandamide contribute to sensory loss and pain in Parkinson\u2019s disease","volume":"35","author":"Klatt-Schreiner","year":"2020","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0375","doi-asserted-by":"crossref","first-page":"2313","DOI":"10.1007\/s12031-022-02066-y","article-title":"Prosaposin reduces alpha-Synuclein in cells and Saposin C dislodges it from Glucosylceramide-enriched lipid membranes","volume":"72","author":"Kojima","year":"2022","journal-title":"Journal of Molecular Neuroscience"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0380","doi-asserted-by":"crossref","first-page":"e1008","DOI":"10.1212\/WNL.0000000000010042","article-title":"GBA variants in REM sleep behavior disorder: A multicenter study","volume":"95","author":"Krohn","year":"2020","journal-title":"Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0385","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.abm6393","article-title":"Mutant glucocerebrosidase impairs alpha-synuclein degradation by blockade of chaperone-mediated autophagy","volume":"8","author":"Kuo","year":"2022","journal-title":"Science Advances"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0390","doi-asserted-by":"crossref","first-page":"3050","DOI":"10.1080\/15548627.2022.2071383","article-title":"Misfolded GBA\/beta-glucocerebrosidase impairs ER-quality control by chaperone-mediated autophagy in Parkinson disease","volume":"18","author":"Kuo","year":"2022","journal-title":"Autophagy"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0395","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1111\/j.1471-4159.2012.07879.x","article-title":"Glucocerebrosidase mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease","volume":"123","author":"Kurzawa-Akanbi","year":"2012","journal-title":"Journal of Neurochemistry"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0400","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1007\/s00401-021-02367-3","article-title":"Altered ceramide metabolism is a feature in the extracellular vesicle-mediated spread of alpha-synuclein in Lewy body disorders","volume":"142","author":"Kurzawa-Akanbi","year":"2021","journal-title":"Acta Neuropathologica"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0405","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1002\/mds.28472","article-title":"The mutation matters: CSF profiles of GCase, Sphingolipids, alpha-Synuclein in PD(GBA)","volume":"36","author":"Lerche","year":"2021","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0410","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1002\/mds.27884","article-title":"Parkinson\u2019s disease: Glucocerebrosidase 1 mutation severity is associated with CSF Alpha-Synuclein profiles","volume":"35","author":"Lerche","year":"2020","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0415","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1136\/jnnp-2018-318650","article-title":"Lifetime risk of common neurological diseases in the elderly population","volume":"90","author":"Licher","year":"2019","journal-title":"Journal of Neurology, Neurosurgery, and Psychiatry"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0420","doi-asserted-by":"crossref","first-page":"4816","DOI":"10.1021\/bi9002265","article-title":"Effects of pH and iminosugar pharmacological chaperones on lysosomal glycosidase structure and stability","volume":"48","author":"Lieberman","year":"2009","journal-title":"Biochemistry"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0425","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1038\/nchembio850","article-title":"Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease","volume":"3","author":"Lieberman","year":"2007","journal-title":"Nature Chemical Biology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0430","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1016\/j.ymgme.2011.12.002","article-title":"Is E326K glucocerebrosidase a polymorphic or pathological variant?","volume":"105","author":"Liou","year":"2012","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0435","doi-asserted-by":"crossref","first-page":"4242","DOI":"10.1074\/jbc.M511110200","article-title":"Analyses of variant acid beta-glucosidases: Effects of Gaucher disease mutations","volume":"281","author":"Liou","year":"2006","journal-title":"Journal of Biological Chemistry"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0440","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1002\/ana.24781","article-title":"Specifically neuropathic Gaucher\u2019s mutations accelerate cognitive decline in Parkinson\u2019s","volume":"80","author":"Liu","year":"2016","journal-title":"Annals of Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0445","doi-asserted-by":"crossref","first-page":"21200","DOI":"10.1073\/pnas.1119181109","article-title":"Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease","volume":"108","author":"Lu","year":"2011","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0450","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/s41531-021-00206-6","article-title":"Serum lipid profile among sporadic and familial forms of Parkinson\u2019s disease","volume":"7","author":"Macias-Garcia","year":"2021","journal-title":"NPJ Parkinson\u2019s Disease"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0455","doi-asserted-by":"crossref","first-page":"23502","DOI":"10.1074\/jbc.M109.012393","article-title":"Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease","volume":"284","author":"Maegawa","year":"2009","journal-title":"The Journal of Biological Chemistry"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0460","doi-asserted-by":"crossref","first-page":"3432","DOI":"10.1093\/hmg\/ddw185","article-title":"Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: Relevance to Parkinson disease","volume":"25","author":"Magalhaes","year":"2016","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0465","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1038\/s41598-018-19479-8","article-title":"Effects of ambroxol on the autophagy-lysosome pathway and mitochondria in primary cortical neurons","volume":"8","author":"Magalhaes","year":"2018","journal-title":"Scientific Reports"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0470","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1523\/JNEUROSCI.0680-22.2022","article-title":"Neuronopathic GBA1L444P mutation accelerates Glucosylsphingosine levels and formation of hippocampal alpha-synuclein inclusions","volume":"43","author":"Mahoney-Crane","year":"2023","journal-title":"The Journal of Neuroscience"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0475","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1136\/jnnp-2017-317348","article-title":"Features of GBA-associated Parkinson\u2019s disease at presentation in the UK Tracking Parkinson\u2019s study","volume":"89","author":"Malek","year":"2018","journal-title":"Journal of Neurology, Neurosurgery, and Psychiatry"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0480","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1038\/ejhg.2013.182","article-title":"Functional analysis of 11 novel GBA alleles","volume":"22","author":"Malini","year":"2014","journal-title":"European Journal of Human Genetics"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0485","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1038\/s41591-018-0106-7","article-title":"Fetal gene therapy for neurodegenerative disease of infants","volume":"24","author":"Massaro","year":"2018","journal-title":"Nature Medicine"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0490","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.cell.2011.06.001","article-title":"Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies","volume":"146","author":"Mazzulli","year":"2011","journal-title":"Cell"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0495","doi-asserted-by":"crossref","first-page":"7693","DOI":"10.1523\/JNEUROSCI.0628-16.2016","article-title":"Activation of beta-Glucocerebrosidase reduces pathological alpha-Synuclein and restores Lysosomal function in Parkinson\u2019s patient midbrain neurons","volume":"36","author":"Mazzulli","year":"2016","journal-title":"The Journal of Neuroscience"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0500","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1093\/brain\/awu020","article-title":"Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells","volume":"137","author":"McNeill","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0505","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0073094","article-title":"Plasma ceramide and glucosylceramide metabolism is altered in sporadic Parkinson\u2019s disease and associated with cognitive impairment: A pilot study","volume":"8","author":"Mielke","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0510","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1002\/ana.24790","article-title":"Ambroxol effects in glucocerebrosidase and alpha-synuclein transgenic mice","volume":"80","author":"Migdalska-Richards","year":"2016","journal-title":"Annals of Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0515","doi-asserted-by":"crossref","DOI":"10.1002\/syn.21967","article-title":"Oral ambroxol increases brain glucocerebrosidase activity in a nonhuman primate","volume":"71","author":"Migdalska-Richards","year":"2017","journal-title":"Synapse"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0520","doi-asserted-by":"crossref","first-page":"2706","DOI":"10.1093\/brain\/awx221","article-title":"The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice","volume":"140","author":"Migdalska-Richards","year":"2017","journal-title":"Brain"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0525","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1007\/s12035-018-1090-0","article-title":"Characterization of brain Lysosomal activities in GBA-related and Sporadic Parkinson\u2019s Disease and Dementia with Lewy Bodies","volume":"56","author":"Moors","year":"2019","journal-title":"Molecular Neurobiology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0530","doi-asserted-by":"crossref","first-page":"2727","DOI":"10.1016\/j.ymthe.2017.08.004","article-title":"AAV-PHP.B-mediated global-scale expression in the Mouse Nervous System Enables GBA1 gene therapy for wide protection from Synucleinopathy","volume":"25","author":"Morabito","year":"2017","journal-title":"Molecular Therapy"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0535","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1001\/jamaneurol.2019.4611","article-title":"Ambroxol for the treatment of patients with Parkinson Disease with and without Glucocerebrosidase gene mutations: A nonrandomized, noncontrolled trial","volume":"77","author":"Mullin","year":"2020","journal-title":"JAMA Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0540","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1093\/brain\/awt367","article-title":"Reduced glucocerebrosidase is associated with increased alpha-synuclein in sporadic Parkinson\u2019s disease","volume":"137","author":"Murphy","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0545","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1001\/jamaneurol.2013.1925","article-title":"A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies","volume":"70","author":"Nalls","year":"2013","journal-title":"JAMA Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0550","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1002\/acn3.292","article-title":"Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study","volume":"3","author":"Narita","year":"2016","journal-title":"Annals of Clinical Translational Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0555","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1038\/s41531-022-00397-6","article-title":"Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology","volume":"8","author":"Navarro-Romero","year":"2022","journal-title":"NPJ Parkinsons Dis"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0560","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1093\/qjmed\/89.9.691","article-title":"Occurrence of Parkinson's syndrome in type I Gaucher disease","volume":"89","author":"Neudorfer","year":"1996","journal-title":"QJM"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0565","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1096\/fasebj.5.3.2001789","article-title":"Saposin proteins: Structure, function, and role in human lysosomal storage disorders","volume":"5","author":"O\u2019Brien","year":"1991","journal-title":"The FASEB Journal"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0570","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1002\/mds.28792","article-title":"Glucocerebrosidase activity is not associated with Parkinson\u2019s Disease risk or severity","volume":"37","author":"Omer","year":"2022","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0575","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1016\/j.cmet.2013.04.014","article-title":"Mitochondria and quality control defects in a mouse model of Gaucher disease--links to Parkinson\u2019s disease","volume":"17","author":"Osellame","year":"2013","journal-title":"Cell Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0580","doi-asserted-by":"crossref","first-page":"2133","DOI":"10.1016\/j.bbamem.2006.08.019","article-title":"Acid ceramidase and human disease","volume":"1758","author":"Park","year":"2006","journal-title":"Biochimica et Biophysica Acta"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0585","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1002\/mds.29314","article-title":"Classification of GBA1 variants in Parkinson\u2019s disease: The GBA1-PD browser","volume":"38","author":"Parlar","year":"2023","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0590","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1002\/mds.27136","article-title":"Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in parkinson's disease patients","volume":"32","author":"Parnetti","year":"2017","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0595","doi-asserted-by":"crossref","first-page":"5734","DOI":"10.1021\/jm300063b","article-title":"Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase","volume":"55","author":"Patnaik","year":"2012","journal-title":"Journal of Medicinal Chemistry"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0600","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.neulet.2016.10.039","article-title":"Oligomeric alpha-synuclein and glucocerebrosidase activity levels in GBA-associated Parkinson's disease","volume":"636","author":"Pchelina","year":"2017","journal-title":"Neuroscience Letters"},{"issue":"Suppl. 1","key":"10.1016\/j.pharmthera.2023.108419_bb0605","article-title":"Effect of venglustat by GBA mutation severity in patients with Parkinson\u2019s disease [abstract]","volume":"36","author":"Peterschmitt","year":"2021","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0610","doi-asserted-by":"crossref","first-page":"557","DOI":"10.3233\/JPD-212714","article-title":"Safety, pharmacokinetics, and pharmacodynamics of oral venglustat in patients with Parkinson\u2019s disease and a GBA mutation: Results from Part 1 of the randomized, Double-Blinded, Placebo-Controlled MOVES-PD trial","volume":"12","author":"Peterschmitt","year":"2022","journal-title":"Journal of Parkinson\u2019s Disease"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0615","doi-asserted-by":"crossref","first-page":"2106","DOI":"10.1002\/mds.28195","article-title":"GBA-related Parkinson\u2019s Disease: Dissection of genotype-phenotype correlates in a Large Italian Cohort","volume":"35","author":"Petrucci","year":"2020","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0620","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1080\/15548627.2022.2045534","article-title":"Recombinant pro-CTSD (cathepsin D) enhances SNCA\/alpha-Synuclein degradation in alpha-Synucleinopathy models","volume":"18","author":"Prieto Huarcaya","year":"2022","journal-title":"Autophagy"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0625","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1038\/gim.2012.107","article-title":"Age-specific Parkinson disease risk in GBA mutation carriers: Information for genetic counseling","volume":"15","author":"Rana","year":"2013","journal-title":"Genetics in Medicine"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0630","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/j.cell.2007.10.018","article-title":"LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase","volume":"131","author":"Reczek","year":"2007","journal-title":"Cell"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0635","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1007\/s13311-014-0294-x","article-title":"A GCase chaperone improves motor function in a mouse model of synucleinopathy","volume":"11","author":"Richter","year":"2014","journal-title":"Neurotherapeutics"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0640","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1002\/acn3.177","article-title":"Progressive decline of glucocerebrosidase in aging and Parkinson\u2019s disease","volume":"2","author":"Rocha","year":"2015","journal-title":"Annals of Clinical Translational Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0645","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/j.nbd.2015.09.009","article-title":"Glucocerebrosidase gene therapy prevents alpha-synucleinopathy of midbrain dopamine neurons","volume":"82","author":"Rocha","year":"2015","journal-title":"Neurobiology of Disease"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0650","first-page":"2645","article-title":"Glucocerebrosidase modulates cognitive and motor activities in murine models of Parkinson\u2019s disease","volume":"25","author":"Rockenstein","year":"2016","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0655","doi-asserted-by":"crossref","first-page":"2387","DOI":"10.1093\/hmg\/ddi240","article-title":"ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity","volume":"14","author":"Ron","year":"2005","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0660","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.1002\/mds.27413","article-title":"Higher serum cholesterol and decreased Parkinson's disease risk: A statin-free cohort study","volume":"33","author":"Rozani","year":"2018","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0665","doi-asserted-by":"crossref","first-page":"31380","DOI":"10.1038\/srep31380","article-title":"Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models","volume":"6","author":"Sanchez-Martinez","year":"2016","journal-title":"Scientific Reports"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0670","doi-asserted-by":"crossref","first-page":"12101","DOI":"10.1073\/pnas.1108197108","article-title":"CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy","volume":"108","author":"Sardi","year":"2011","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0675","doi-asserted-by":"crossref","first-page":"3537","DOI":"10.1073\/pnas.1220464110","article-title":"Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies","volume":"110","author":"Sardi","year":"2013","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0680","doi-asserted-by":"crossref","first-page":"2699","DOI":"10.1073\/pnas.1616152114","article-title":"Glucosylceramide synthase inhibition alleviates aberrations in synucleinopathy models","volume":"114","author":"Sardi","year":"2017","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0685","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1016\/j.chembiol.2005.09.007","article-title":"Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles","volume":"12","author":"Sawkar","year":"2005","journal-title":"Chemistry & Biology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0690","doi-asserted-by":"crossref","first-page":"15428","DOI":"10.1073\/pnas.192582899","article-title":"Chemical chaperones increase the cellular activity of N370S beta -glucosidase: A therapeutic strategy for Gaucher disease","volume":"99","author":"Sawkar","year":"2002","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0695","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/0014-5793(91)80760-Z","article-title":"Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease","volume":"284","author":"Schnabel","year":"1991","journal-title":"FEBS Letters"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0700","doi-asserted-by":"crossref","first-page":"4028","DOI":"10.1038\/ncomms5028","article-title":"iPSC-derived neurons from GBA1-associated Parkinson\u2019s disease patients show autophagic defects and impaired calcium homeostasis","volume":"5","author":"Schondorf","year":"2014","journal-title":"Nature Communications"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0705","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1016\/S1474-4422(12)70190-4","article-title":"The link between the GBA gene and parkinsonism","volume":"11","author":"Sidransky","year":"2012","journal-title":"Lancet Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0710","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1056\/NEJMoa0901281","article-title":"Multicenter analysis of glucocerebrosidase mutations in Parkinson\u2019s disease","volume":"361","author":"Sidransky","year":"2009","journal-title":"The New England Journal of Medicine"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0715","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/s12883-019-1252-3","article-title":"Ambroxol as a novel disease-modifying treatment for Parkinson\u2019s disease dementia: Protocol for a single-centre, randomized, double-blind, placebo-controlled trial","volume":"19","author":"Silveira","year":"2019","journal-title":"BMC Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0720","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.expneurol.2017.09.010","article-title":"Insights into the structural biology of Gaucher disease","volume":"298","author":"Smith","year":"2017","journal-title":"Experimental Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0725","first-page":"773","article-title":"The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines","volume":"32","author":"Smith","year":"2023","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0730","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2022.971252","article-title":"Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease","volume":"13","author":"Smith","year":"2022","journal-title":"Frontiers in Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0735","doi-asserted-by":"crossref","first-page":"3091","DOI":"10.1093\/brain\/awl267","article-title":"Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia","volume":"129","author":"Snowden","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0740","doi-asserted-by":"crossref","first-page":"13813","DOI":"10.1073\/pnas.0605928103","article-title":"The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms","volume":"103","author":"Steet","year":"2006","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0745","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1086\/504159","article-title":"Cathepsin D deficiency is associated with a human neurodegenerative disorder","volume":"78","author":"Steinfeld","year":"2006","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0750","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1186\/1750-1172-7-77","article-title":"The French Gaucher\u2019s disease registry: Clinical characteristics, complications and treatment of 562 patients","volume":"7","author":"Stirnemann","year":"2012","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0755","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s00441-017-2704-y","article-title":"Molecular mechanisms of alpha-synuclein and GBA1 in Parkinson\u2019s disease","volume":"373","author":"Stojkovska","year":"2018","journal-title":"Cell and Tissue Research"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0760","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1136\/jnnp-2020-322857","article-title":"Impact of GBA1 variants on long-term clinical progression and mortality in incident Parkinson\u2019s disease","volume":"91","author":"Stoker","year":"2020","journal-title":"Journal of Neurology, Neurosurgery, and Psychiatry"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0765","doi-asserted-by":"crossref","first-page":"4275","DOI":"10.1074\/jbc.M111.280016","article-title":"Ex vivo and in vivo effects of isofagomine on acid beta-glucosidase variants and substrate levels in Gaucher disease","volume":"287","author":"Sun","year":"2012","journal-title":"The Journal of Biological Chemistry"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0770","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1002\/mds.28846","article-title":"Plasma Glucosylsphingosine in GBA1 mutation carriers with and without Parkinson\u2019s Disease","volume":"37","author":"Surface","year":"2022","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0775","doi-asserted-by":"crossref","first-page":"9617","DOI":"10.1523\/JNEUROSCI.1525-17.2017","article-title":"Glucosylsphingosine promotes alpha-Synuclein pathology in mutant GBA-Associated Parkinson\u2019s disease","volume":"37","author":"Taguchi","year":"2017","journal-title":"The Journal of Neuroscience"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0780","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.ymgme.2012.04.024","article-title":"The role of saposin C in Gaucher disease","volume":"106","author":"Tamargo","year":"2012","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0785","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1016\/j.molmed.2020.07.004","article-title":"Pro-cathepsin D, Prosaposin, and Progranulin: Lysosomal Networks in Parkinsonism","volume":"26","author":"Tayebi","year":"2020","journal-title":"Trends in Molecular Medicine"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0790","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.parkreldis.2018.05.009","article-title":"Parkinson's disease phenotype is influenced by the severity of the mutations in the GBA gene","volume":"55","author":"Thaler","year":"2018","journal-title":"Parkinsonism & Related Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0795","doi-asserted-by":"crossref","first-page":"1656","DOI":"10.1002\/mds.27490","article-title":"Survival rates among Parkinson's disease patients who carry mutations in the LRRK2 and GBA genes","volume":"33","author":"Thaler","year":"2018","journal-title":"Movement Disorders"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0800","doi-asserted-by":"crossref","first-page":"20945","DOI":"10.1038\/s41598-021-00404-5","article-title":"Preclinical pharmacology of glucosylceramide synthase inhibitor venglustat in a GBA-related synucleinopathy model","volume":"11","author":"Viel","year":"2021","journal-title":"Scientific Reports"},{"issue":"725","key":"10.1016\/j.pharmthera.2023.108419_bb0805","first-page":"e721","article-title":"Clinical profiles of Parkinson\u2019s disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals","volume":"35","author":"Wang","year":"2014","journal-title":"Neurobiology of Aging"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0810","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0075743","article-title":"Reduced serum levels of triglyceride, very low density lipoprotein cholesterol and apolipoprotein B in Parkinson's disease patients","volume":"8","author":"Wei","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0815","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1016\/j.celrep.2014.10.023","article-title":"iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson\u2019s disease","volume":"9","author":"Woodard","year":"2014","journal-title":"Cell Reports"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0820","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1073\/pnas.1221046110","article-title":"Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones","volume":"110","author":"Yang","year":"2013","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0825","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1016\/j.stemcr.2017.01.011","article-title":"A human neural crest stem cell-derived Dopaminergic Neuronal model recapitulates biochemical abnormalities in GBA1 mutation carriers","volume":"8","author":"Yang","year":"2017","journal-title":"Stem Cell Reports"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0830","doi-asserted-by":"crossref","DOI":"10.1016\/j.nbd.2019.104620","article-title":"Glucocerebrosidase activity, cathepsin D and monomeric alpha-synuclein interactions in a stem cell derived neuronal model of a PD associated GBA1 mutation","volume":"134","author":"Yang","year":"2020","journal-title":"Neurobiology of Disease"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0835","doi-asserted-by":"crossref","first-page":"2396","DOI":"10.1093\/hmg\/ddac038","article-title":"Ambroxol reverses tau and alpha-synuclein accumulation in a cholinergic N370S GBA1 mutation model","volume":"31","author":"Yang","year":"2022","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0840","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/jhg.2014.110","article-title":"Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson's disease","volume":"60","author":"Yu","year":"2015","journal-title":"Journal of Human Genetics"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0845","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/j.jmoldx.2017.05.005","article-title":"GBA analysis in next-generation era: Pitfalls, challenges, and possible solutions","volume":"19","author":"Zampieri","year":"2017","journal-title":"The Journal of Molecular Diagnostics"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0850","doi-asserted-by":"crossref","first-page":"43","DOI":"10.3389\/fnmol.2018.00043","article-title":"Integrated genetic analysis of racial differences of common GBA variants in Parkinson's disease: A meta-analysis","volume":"11","author":"Zhang","year":"2018","journal-title":"Frontiers in Molecular Neuroscience"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0855","article-title":"PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, GBA1 mutation-associated pathologies and diseases","volume":"120","author":"Zhao","year":"2023","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"issue":"92\u2013107","key":"10.1016\/j.pharmthera.2023.108419_bb0860","article-title":"Reversible conformational conversion of alpha-synuclein into toxic assemblies by Glucosylceramide","volume":"97","author":"Zunke","year":"2018","journal-title":"Neuron"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0135","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1016\/S1474-4422(18)30295-3","article-title":"Global, regional, and national burden of Parkinson\u2019s disease, 1990-2016: A systematic analysis for the Global Burden of Disease Study 2016","volume":"17","author":"GBD 2016 Parkinson's Disease Collaborators","year":"2018","journal-title":"Lancet Neurology"},{"key":"10.1016\/j.pharmthera.2023.108419_bb0863","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/j.ebiom.2018.11.037","article-title":"The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase","author":"Fog","year":"2018","journal-title":"EBioMedicine"}],"container-title":["Pharmacology &amp; Therapeutics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0163725823000839?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0163725823000839?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T22:29:05Z","timestamp":1759012145000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0163725823000839"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6]]},"references-count":173,"alternative-id":["S0163725823000839"],"URL":"https:\/\/doi.org\/10.1016\/j.pharmthera.2023.108419","relation":{},"ISSN":["0163-7258"],"issn-type":[{"value":"0163-7258","type":"print"}],"subject":[],"published":{"date-parts":[[2023,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Targeting the GBA1 pathway to slow Parkinson disease: Insights into clinical aspects, pathogenic mechanisms and new therapeutic avenues","name":"articletitle","label":"Article Title"},{"value":"Pharmacology & Therapeutics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.pharmthera.2023.108419","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"108419"}}