{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T22:34:15Z","timestamp":1784759655575,"version":"3.55.0"},"reference-count":74,"publisher":"Public Library of Science (PLoS)","issue":"3","license":[{"start":{"date-parts":[[2025,3,19]],"date-time":"2025-03-19T00:00:00Z","timestamp":1742342400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>Lysosomal storage disorders (LSDs) are a group of rare genetic conditions characterized by the impaired function of enzymes responsible for lipid digestion. Among these LSDs, Tay-Sachs disease (TSD) and Niemann-Pick type C (NPC) may share a common gene expression profile. In this study, we conducted a bioinformatics analysis to explore the gene expression profile overlap between TSD and NPC. Analyses were performed on RNA-seq datasets for both TSD and NPC from the Gene Expression Omnibus (GEO) database. Datasets were subjected to differential gene expression analysis utilizing the DESeq2 package in the R programming language. A total of 147 differentially expressed genes (DEG) were found to be shared between the TSD and NPC datasets. Enrichment analysis was then performed on the DEGs. We found that the common DEGs are predominantly associated with processes such as cell adhesion mediated by integrin, cell-substrate adhesion, and urogenital system development. Furthermore, construction of protein-protein interaction (PPI) networks using the Cytoscape software led to the identification of four hub genes: <jats:italic>APOE<\/jats:italic>, <jats:italic>CD44<\/jats:italic>, <jats:italic>SNCA<\/jats:italic>, and <jats:italic>ITGB5<\/jats:italic>. Those hub genes not only can unravel the pathogenesis of related neurologic diseases with common impaired pathways, but also may pave the way towards targeted gene therapy of LSDs.In addition, they serve as the potential biomarkers for related neurodegenerative diseases warranting further investigations.<\/jats:p>","DOI":"10.1371\/journal.pone.0319401","type":"journal-article","created":{"date-parts":[[2025,3,19]],"date-time":"2025-03-19T18:25:14Z","timestamp":1742408714000},"page":"e0319401","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":3,"title":["Differential gene expression patterns in Niemann-Pick Type C and Tay-Sachs diseases: Implications for neurodegenerative mechanisms"],"prefix":"10.1371","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6979-9928","authenticated-orcid":true,"given":"Ramin","family":"Yousefpour Shahrivar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9590-754X","authenticated-orcid":true,"given":"Fatemeh","family":"Karami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6909-0102","authenticated-orcid":true,"given":"Ebrahim","family":"Karami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2025,3,19]]},"reference":[{"key":"pone.0319401.ref001","first-page":"19","article-title":"Tay-Sachs disease: current perspectives from Australia","volume":"8","author":"RM Lew","year":"2015","journal-title":"Appl Clin Genet"},{"key":"pone.0319401.ref002","doi-asserted-by":"crossref","first-page":"906647","DOI":"10.3389\/fphar.2022.906647","article-title":"Therapeutic Strategies For Tay-Sachs Disease","volume":"13","author":"JA Picache","year":"2022","journal-title":"Front Pharmacol"},{"issue":"6","key":"pone.0319401.ref003","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1111\/jnc.14895","article-title":"Niemann-Pick type C disease: cellular pathology and pharmacotherapy","volume":"153","author":"S Wheeler","year":"2020","journal-title":"J Neurochem"},{"issue":"1\u20132","key":"pone.0319401.ref004","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1016\/j.ymgme.2021.06.011","article-title":"Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States","volume":"134","author":"BK Burton","year":"2021","journal-title":"Mol Genet Metab"},{"issue":"1","key":"pone.0319401.ref005","doi-asserted-by":"crossref","first-page":"22621","DOI":"10.1038\/s41598-021-01966-0","article-title":"Estimated prevalence of Niemann-Pick type C disease in Quebec","volume":"11","author":"M Labrecque","year":"2021","journal-title":"Sci Rep"},{"key":"pone.0319401.ref006","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/B978-0-12-802896-4.00017-1","article-title":"Lysosomal storage disorders","author":"C Yu","year":"2017","journal-title":"Biomarkers in Inborn Errors of Metabolism"},{"issue":"3","key":"pone.0319401.ref007","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/j.ymgme.2012.03.012","article-title":"Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update","volume":"106","author":"MC Patterson","year":"2012","journal-title":"Mol Genet Metab"},{"issue":"4","key":"pone.0319401.ref008","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1007\/s00415-015-7729-0","article-title":"Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene","volume":"262","author":"C Stendel","year":"2015","journal-title":"J Neurol"},{"issue":"4","key":"pone.0319401.ref009","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1097\/YPG.0000000000000286","article-title":"Psychosis symptoms associated with Niemann-Pick disease type C","volume":"31","author":"LT Ong","year":"2021","journal-title":"Psychiatr Genet"},{"issue":"2","key":"pone.0319401.ref010","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/s40263-018-0599-0","article-title":"Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management","volume":"33","author":"T Rego","year":"2019","journal-title":"CNS Drugs"},{"issue":"5","key":"pone.0319401.ref011","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1016\/j.mehy.2014.08.025","article-title":"Mutations in Niemann Pick type C gene are risk factor for Alzheimer\u2019s disease","volume":"83","author":"N Kresojevi\u0107","year":"2014","journal-title":"Med Hypotheses"},{"issue":"21","key":"pone.0319401.ref012","doi-asserted-by":"crossref","first-page":"13537","DOI":"10.3390\/ijms232113537","article-title":"Neurodegenerative Disorder Risk in Krabbe Disease Carriers","volume":"23","author":"L Vantaggiato","year":"2022","journal-title":"Int J Mol Sci"},{"issue":"8","key":"pone.0319401.ref013","doi-asserted-by":"crossref","first-page":"2255","DOI":"10.1093\/brain\/awy147","article-title":"Is Parkinson\u2019s disease a lysosomal disorder?","volume":"141","author":"AD Klein","year":"2018","journal-title":"Brain"},{"issue":"15","key":"pone.0319401.ref014","doi-asserted-by":"crossref","first-page":"5223","DOI":"10.1523\/JNEUROSCI.4860-11.2012","article-title":"Lysosomal dysfunction in a mouse model of Sandhoff disease leads to accumulation of ganglioside-bound amyloid-\u03b2 peptide","volume":"32","author":"S Keilani","year":"2012","journal-title":"J Neurosci"},{"issue":"1","key":"pone.0319401.ref015","doi-asserted-by":"crossref","first-page":"141","DOI":"10.3233\/JPD-191704","article-title":"Parkinson\u2019s Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees","volume":"10","author":"MF Gago","year":"2020","journal-title":"J Parkinsons Dis"},{"issue":"3","key":"pone.0319401.ref016","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.bcmd.2012.11.011","article-title":"Phenotype in patients with Gaucher disease and Parkinson disease","volume":"50","author":"EB Chetrit","year":"2013","journal-title":"Blood Cells Mol Dis"},{"issue":"2","key":"pone.0319401.ref017","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/s10545-010-9055-0","article-title":"The risk of Parkinson\u2019s disease in type 1 Gaucher disease","volume":"33","author":"G Bultron","year":"2010","journal-title":"J Inherit Metab Dis"},{"issue":"3","key":"pone.0319401.ref018","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.3233\/JAD-210453","article-title":"Niemann-Pick Type C 1 (NPC1) and NPC2 Gene Variability in Demented Patients with Evidence of Brain Amyloid Deposition","volume":"83","author":"F Sorrentino","year":"2021","journal-title":"J Alzheimers Dis"},{"issue":"4","key":"pone.0319401.ref019","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1002\/jimd.12596","article-title":"Gene expression changes in Tay-Sachs disease begin early in fetal brain development","volume":"46","author":"ST Han","year":"2023","journal-title":"J Inherit Metab Dis"},{"issue":"12","key":"pone.0319401.ref020","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1038\/s41419-020-03262-7","article-title":"Human iNSC-derived brain organoid model of lysosomal storage disorder in Niemann-Pick disease type C","volume":"11","author":"S-E Lee","year":"2020","journal-title":"Cell Death Dis"},{"key":"pone.0319401.ref021","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/978-1-4939-3578-9_5","article-title":"The Gene Expression Omnibus Database","author":"E Clough","year":"2016","journal-title":"Methods Mol Biol"},{"issue":"12","key":"pone.0319401.ref022","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1186\/s13059-014-0550-8","article-title":"Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2","volume":"15","author":"MI Love","year":"2014","journal-title":"Genome Biol"},{"issue":"1","key":"pone.0319401.ref023","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1186\/1532-429X-14-83","article-title":"MultiContrast Delayed Enhancement (MCODE) improves detection of subendocardial myocardial infarction by late gadolinium enhancement cardiovascular magnetic resonance: a clinical validation study","volume":"14","author":"WP Bandettini","year":"2012","journal-title":"J Cardiovasc Magn Reson"},{"issue":"Suppl 4","key":"pone.0319401.ref024","doi-asserted-by":"crossref","first-page":"S11","DOI":"10.1186\/1752-0509-8-S4-S11","article-title":"cytoHubba: identifying hub objects and sub-networks from complex interactome","author":"C-H Chin","year":"2014","journal-title":"BMC Syst Biol"},{"issue":"Web Server issue","key":"pone.0319401.ref025","doi-asserted-by":"crossref","first-page":"W214","DOI":"10.1093\/nar\/gkq537","article-title":"The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function","volume":"38","author":"D Warde-Farley","year":"2010","journal-title":"Nucleic Acids Res"},{"issue":"12","key":"pone.0319401.ref026","doi-asserted-by":"crossref","first-page":"3831","DOI":"10.1111\/ejn.14859","article-title":"Integrin adhesion in brain assembly: From molecular structure to neuropsychiatric disorders","volume":"53","author":"F Jaudon","year":"2021","journal-title":"Eur J Neurosci"},{"issue":"1","key":"pone.0319401.ref027","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/j.pharmthera.2011.12.008","article-title":"Integrins as receptor targets for neurological disorders","volume":"134","author":"X Wu","year":"2012","journal-title":"Pharmacol Ther"},{"issue":"3","key":"pone.0319401.ref028","doi-asserted-by":"crossref","first-page":"151441","DOI":"10.1016\/j.ejcb.2024.151441","article-title":"The role of integrins in brain health and neurodegenerative diseases","volume":"103","author":"Y Cui","year":"2024","journal-title":"Eur J Cell Biol"},{"key":"pone.0319401.ref029","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/B978-0-444-63486-3.00005-0","article-title":"ECM receptors in neuronal structure, synaptic plasticity, and behavior","volume":"214","author":"ME Kerrisk","year":"2014","journal-title":"Prog Brain Res"},{"issue":"3","key":"pone.0319401.ref030","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.3233\/JAD-160214","article-title":"Role of Niemann-Pick Type C Disease Mutations in Dementia","volume":"55","author":"C Cupidi","year":"2017","journal-title":"J Alzheimers Dis"},{"issue":"8","key":"pone.0319401.ref031","doi-asserted-by":"crossref","first-page":"7435","DOI":"10.3390\/ijms24087435","article-title":"Proteins and Transcriptional Dysregulation of the Brain Extracellular Matrix in Parkinson\u2019s Disease: A Systematic Review","volume":"24","author":"WA Rike","year":"2023","journal-title":"Int J Mol Sci"},{"issue":"1","key":"pone.0319401.ref032","doi-asserted-by":"crossref","first-page":"108","DOI":"10.3390\/biom13010108","article-title":"The Potential Role of Integrin Signaling in Memory and Cognitive Impairment","volume":"13","author":"IJ Biose","year":"2023","journal-title":"Biomolecules"},{"key":"pone.0319401.ref033"},{"issue":"7","key":"pone.0319401.ref034","doi-asserted-by":"crossref","first-page":"776","DOI":"10.2174\/156800912802429337","article-title":"Targeting of adhesion molecules as a therapeutic strategy in multiple myeloma","volume":"12","author":"P Neri","year":"2012","journal-title":"Curr Cancer Drug Targets"},{"issue":"2","key":"pone.0319401.ref035","first-page":"412","article-title":"Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase","volume":"48","author":"R Navon","year":"1991","journal-title":"Am J Hum Genet"},{"issue":"10","key":"pone.0319401.ref036","doi-asserted-by":"crossref","first-page":"3511","DOI":"10.1021\/acs.jproteome.6b00238","article-title":"1H NMR-Linked Metabolomics Analysis of Liver from a Mouse Model of NP-C1 Disease","volume":"15","author":"V Ruiz-Rodado","year":"2016","journal-title":"J Proteome Res"},{"issue":"1","key":"pone.0319401.ref037","doi-asserted-by":"crossref","first-page":"e207898","DOI":"10.1212\/WNL.0000000000207898","article-title":"Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset","volume":"102","author":"J Kern","year":"2024","journal-title":"Neurology"},{"issue":"1","key":"pone.0319401.ref038","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.mcn.2009.10.007","article-title":"Lack of Niemann-Pick type C1 induces age-related degeneration in the mouse retina","volume":"43","author":"T Claudepierre","year":"2010","journal-title":"Mol Cell Neurosci"},{"key":"pone.0319401.ref039","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1186\/s12868-014-0126-2","article-title":"Defects in the retina of Niemann-pick type C 1 mutant mice","volume":"15","author":"X Yan","year":"2014","journal-title":"BMC Neurosci"},{"issue":"7","key":"pone.0319401.ref040","doi-asserted-by":"crossref","first-page":"2070","DOI":"10.1007\/s00415-020-09796-2","article-title":"Retinal axonal degeneration in Niemann-Pick type C disease","volume":"267","author":"J Havla","year":"2020","journal-title":"J Neurol"},{"issue":"7","key":"pone.0319401.ref041","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1161\/ATVBAHA.116.307023","article-title":"Central Nervous System Lipoproteins: ApoE and Regulation of Cholesterol Metabolism","volume":"36","author":"RW Mahley","year":"2016","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"11","key":"pone.0319401.ref042","doi-asserted-by":"crossref","first-page":"1768","DOI":"10.1093\/hmg\/ddz005","article-title":"The effect of mutant GBA1 on accumulation and aggregation of \u03b1-synuclein","volume":"28","author":"G Maor","year":"2019","journal-title":"Hum Mol Genet"},{"issue":"10","key":"pone.0319401.ref043","doi-asserted-by":"crossref","first-page":"1803","DOI":"10.1080\/15548627.2015.1086055","article-title":"GBA deficiency promotes SNCA\/\u03b1-synuclein accumulation through autophagic inhibition by inactivated PPP2A","volume":"11","author":"T-T Du","year":"2015","journal-title":"Autophagy"},{"key":"pone.0319401.ref044","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.nbd.2014.05.034","article-title":"MicroRNAs: a connection between cholesterol metabolism and neurodegeneration","author":"L Goedeke","year":"2014","journal-title":"Neurobiol Dis"},{"issue":"6","key":"pone.0319401.ref045","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1111\/j.1471-4159.2010.06586.x","article-title":"Altered apolipoprotein E glycosylation is associated with Abeta(42) accumulation in an animal model of Niemann-Pick Type C disease","volume":"112","author":"C-C Chua","year":"2010","journal-title":"J Neurochem"},{"issue":"2","key":"pone.0319401.ref046","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/j.gene.2013.05.009","article-title":"Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy","volume":"526","author":"A \u0141ugowska","year":"2013","journal-title":"Gene"},{"issue":"5","key":"pone.0319401.ref047","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1002\/path.4328","article-title":"Neuronal inclusions of \u03b1-synuclein contribute to the pathogenesis of Krabbe disease","volume":"232","author":"BR Smith","year":"2014","journal-title":"J Pathol"},{"issue":"1","key":"pone.0319401.ref048","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/s13024-022-00574-4","article-title":"ApoE in Alzheimer\u2019s disease: pathophysiology and therapeutic strategies","volume":"17","author":"A-C Raulin","year":"2022","journal-title":"Mol Neurodegener"},{"issue":"1","key":"pone.0319401.ref049","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/S1474-4422(20)30412-9","article-title":"APOE and Alzheimer\u2019s disease: advances in genetics, pathophysiology, and therapeutic approaches","volume":"20","author":"A Serrano-Pozo","year":"2021","journal-title":"Lancet Neurol"},{"issue":"1","key":"pone.0319401.ref050","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1186\/s13287-023-03444-y","article-title":"APOE deficiency impacts neural differentiation and cholesterol biosynthesis in human iPSC-derived cerebral organoids","volume":"14","author":"J Zhao","year":"2023","journal-title":"Stem Cell Res Ther"},{"issue":"4","key":"pone.0319401.ref051","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1212\/WNL.0b013e318208f4ab","article-title":"Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional study","volume":"76","author":"N Mattsson","year":"2011","journal-title":"Neurology"},{"issue":"11","key":"pone.0319401.ref052","doi-asserted-by":"crossref","first-page":"2775","DOI":"10.1002\/ajmg.a.35395","article-title":"Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1","author":"R Fu","year":"2012","journal-title":"Am J Med Genet A"},{"issue":"22","key":"pone.0319401.ref053","doi-asserted-by":"crossref","first-page":"4857","DOI":"10.1093\/hmg\/dds322","article-title":"Mutant human APP exacerbates pathology in a mouse model of NPC and its reversal by a \u03b2-cyclodextrin","volume":"21","author":"M Maulik","year":"2012","journal-title":"Hum Mol Genet"},{"issue":"1","key":"pone.0319401.ref054","doi-asserted-by":"crossref","first-page":"e54605","DOI":"10.1371\/journal.pone.0054605","article-title":"Alterations in gene expression in mutant amyloid precursor protein transgenic mice lacking Niemann-Pick type C1 protein","volume":"8","author":"M Maulik","year":"2013","journal-title":"PLoS One"},{"issue":"10","key":"pone.0319401.ref055","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1038\/ng.440","article-title":"Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer\u2019s disease","volume":"41","author":"D Harold","year":"2009","journal-title":"Nat Genet"},{"key":"pone.0319401.ref056","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.nbd.2014.05.033","article-title":"Bidirectional links between Alzheimer\u2019s disease and Niemann-Pick type C disease","author":"M Malnar","year":"2014","journal-title":"Neurobiol Dis"},{"issue":"2","key":"pone.0319401.ref057","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.3390\/ijms25021240","article-title":"Uncovering Novel Extracellular Matrix Transcriptome Alterations in Lesions of Multiple Sclerosis","volume":"25","author":"EL Stephenson","year":"2024","journal-title":"Int J Mol Sci"},{"key":"pone.0319401.ref058","doi-asserted-by":"crossref","first-page":"106133","DOI":"10.1016\/j.phrs.2022.106133","article-title":"CD44 deficiency represses neuroinflammation and rescues dopaminergic neurons in a mouse model of Parkinson\u2019s disease","volume":"177","author":"Y Wang","year":"2022","journal-title":"Pharmacol Res"},{"key":"pone.0319401.ref059"},{"issue":"20","key":"pone.0319401.ref060","doi-asserted-by":"crossref","first-page":"10954","DOI":"10.1073\/pnas.97.20.10954","article-title":"Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation","volume":"97","author":"R Wada","year":"2000","journal-title":"Proc Natl Acad Sci U S A"},{"key":"pone.0319401.ref061","doi-asserted-by":"crossref","first-page":"1380821","DOI":"10.3389\/fonc.2024.1380821","article-title":"Pan-cancer and single-cell analyses identify CD44 as an immunotherapy response predictor and regulating macrophage polarization and tumor progression in colorectal cancer","volume":"14","author":"Q Zhang","year":"2024","journal-title":"Front Oncol"},{"issue":"1","key":"pone.0319401.ref062","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1186\/s12916-022-02404-2","article-title":"Pinpointing novel risk loci for Lewy body dementia and the shared genetic etiology with Alzheimer\u2019s disease and Parkinson\u2019s disease: a large-scale multi-trait association analysis","volume":"20","author":"P Guo","year":"2022","journal-title":"BMC Med"},{"key":"pone.0319401.ref063","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/j.jocn.2019.06.025","article-title":"Screening for Niemann-Pick type C disease in neurodegenerative diseases","volume":"68","author":"S Boenzi","year":"2019","journal-title":"J Clin Neurosci"},{"key":"pone.0319401.ref064","doi-asserted-by":"crossref","first-page":"24475","DOI":"10.1038\/srep24475","article-title":"The Parkinson Disease gene SNCA: Evolutionary and structural insights with pathological implication","volume":"6","author":"IJ Siddiqui","year":"2016","journal-title":"Sci Rep"},{"issue":"Pt 12","key":"pone.0319401.ref065","doi-asserted-by":"crossref","first-page":"3235","DOI":"10.1093\/brain\/awu291","article-title":"Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation","volume":"137","author":"I Fishbein","year":"2014","journal-title":"Brain"},{"issue":"1","key":"pone.0319401.ref066","doi-asserted-by":"crossref","first-page":"17189","DOI":"10.1038\/s41598-022-22179-z","article-title":"Alzheimer\u2019s disease large-scale gene expression portrait identifies exercise as the top theoretical treatment","volume":"12","author":"MA Hill","year":"2022","journal-title":"Sci Rep"},{"key":"pone.0319401.ref067","doi-asserted-by":"crossref","first-page":"676021","DOI":"10.3389\/fmolb.2021.676021","article-title":"Using CRISPRa and CRISPRi Technologies to Study the Biological Functions of ITGB5, TIMP1, and TMEM176B in Prostate Cancer Cells","volume":"8","author":"Y Yang","year":"2021","journal-title":"Front Mol Biosci"},{"key":"pone.0319401.ref068","doi-asserted-by":"crossref","first-page":"106411","DOI":"10.1016\/j.compbiomed.2022.106411","article-title":"Robust identification of common genomic biomarkers from multiple gene expression profiles for the prognosis, diagnosis, and therapies of pancreatic cancer","volume":"152","author":"MB Hossen","year":"2023","journal-title":"Comput Biol Med"},{"issue":"22","key":"pone.0319401.ref069","doi-asserted-by":"crossref","first-page":"13481","DOI":"10.1111\/jcmm.15990","article-title":"Characterization of the prognostic and oncologic values of ITGB superfamily members in pancreatic cancer","volume":"24","author":"H Zhuang","year":"2020","journal-title":"J Cell Mol Med"},{"issue":"10","key":"pone.0319401.ref070","doi-asserted-by":"crossref","first-page":"300060520957197","DOI":"10.1177\/0300060520957197","article-title":"Identification of Parkinson\u2019s disease-related pathways and potential risk factors","volume":"48","author":"J Shen","year":"2020","journal-title":"J Int Med Res"},{"issue":"1","key":"pone.0319401.ref071","doi-asserted-by":"crossref","first-page":"e12018","DOI":"10.1002\/trc2.12018","article-title":"Plasma proteomic signatures predict dementia and cognitive impairment","volume":"6","author":"T Tanaka","year":"2020","journal-title":"Alzheimers Dement (N Y)"},{"key":"pone.0319401.ref072","doi-asserted-by":"crossref","DOI":"10.31219\/osf.io\/8phnw","article-title":"Differential expression of ITGB5 in amyotrophic lateral sclerosis","author":"S Mamoor","year":"2022"},{"key":"pone.0319401.ref073","doi-asserted-by":"crossref","first-page":"869859","DOI":"10.3389\/fgene.2022.869859","article-title":"Novel Indel Variation of NPC1 Gene Associates With Risk of Sudden Cardiac Death","volume":"13","author":"W Zhao","year":"2022","journal-title":"Front Genet"},{"key":"pone.0319401.ref074","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.cca.2013.11.026","article-title":"NPC1, intracellular cholesterol trafficking and atherosclerosis","volume":"429","author":"X-H Yu","year":"2014","journal-title":"Clin Chim Acta"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0319401","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,19]],"date-time":"2025-03-19T18:27:17Z","timestamp":1742408837000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0319401"}},"subtitle":[],"editor":[{"given":"Maria de F\u00e1tima Matos Almeida Henriques de","family":"Macedo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2025,3,19]]},"references-count":74,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2025,3,19]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0319401","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,19]]}}}