{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T21:03:01Z","timestamp":1790370181169,"version":"4.1.0"},"reference-count":102,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1016\/j.ymgme.2026.110236","type":"journal-article","created":{"date-parts":[[2026,8,16]],"date-time":"2026-08-16T11:38:32Z","timestamp":1786880312000},"page":"110236","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Central nervous system biomarkers in Fabry disease: Mechanisms, clinical evidence, and translational integration"],"prefix":"10.1016","volume":"149","author":[{"given":"Krista","family":"Casazza","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nishitha R.","family":"Pillai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanine R.","family":"Jarnes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"11","key":"10.1016\/j.ymgme.2026.110236_bb0005","doi-asserted-by":"crossref","first-page":"2113","DOI":"10.1007\/s11255-020-02546-3","article-title":"Fabry disease: where are we now?","volume":"52","author":"Turkmen","year":"2020","journal-title":"Int. Urol. Nephrol."},{"issue":"4","key":"10.1016\/j.ymgme.2026.110236_bb0010","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s12574-017-0340-x","article-title":"Fabry disease","volume":"15","author":"Yuasa","year":"2017","journal-title":"J. Echocardiogr."},{"issue":"6","key":"10.1016\/j.ymgme.2026.110236_bb0015","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1016\/j.amjms.2020.07.011","article-title":"When and how to diagnose Fabry disease in clinical practice","volume":"360","author":"Michaud","year":"2020","journal-title":"Am J Med Sci"},{"issue":"8","key":"10.1016\/j.ymgme.2026.110236_bb0020","doi-asserted-by":"crossref","DOI":"10.3390\/jcm10081664","article-title":"Biomarkers in Fabry disease. Implications for clinical diagnosis and follow-up","volume":"10","author":"Carnicer-C\u00e1ceres","year":"2021","journal-title":"J. Clin. Med."},{"issue":"4","key":"10.1016\/j.ymgme.2026.110236_bb0025","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1002\/jimd.12472","article-title":"Cognitive dysfunction and white matter hyperintensities in Fabry disease","volume":"45","author":"Murphy","year":"2022","journal-title":"J. Inherit. Metab. Dis."},{"issue":"1","key":"10.1016\/j.ymgme.2026.110236_bb0030","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/s00467-021-05076-x","article-title":"Fabry disease and kidney involvement: starting from childhood to understand the future","volume":"37","author":"Chimenz","year":"2022","journal-title":"Pediatr. Nephrol."},{"issue":"6","key":"10.1016\/j.ymgme.2026.110236_bb0035","doi-asserted-by":"crossref","first-page":"5246","DOI":"10.3390\/ijms24065246","article-title":"Fabry disease and central nervous system involvement: from big to small, from brain to synapse","volume":"24","author":"Cort\u00e9s-Saladelafont","year":"2023","journal-title":"Int. J. Mol. Sci."},{"issue":"12","key":"10.1016\/j.ymgme.2026.110236_bb0040","article-title":"Stroke and Fabry disease: a review of literature","volume":"12","author":"Mishra","year":"2020","journal-title":"Cureus"},{"issue":"1","key":"10.1016\/j.ymgme.2026.110236_bb0045","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1186\/s12882-023-03138-w","article-title":"The evolution of the initial manifestations and renal involvement of Chinese patients with classical and late-onset Fabry disease at different sexes and ages","volume":"24","author":"Guo","year":"2023","journal-title":"BMC Nephrol."},{"issue":"4","key":"10.1016\/j.ymgme.2026.110236_bb0050","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.ymgme.2018.02.014","article-title":"Fabry disease revisited: management and treatment recommendations for adult patients","volume":"123","author":"Ortiz","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2026.110236_bb0055","doi-asserted-by":"crossref","DOI":"10.3389\/fcvm.2023.1152568","article-title":"Anderson-Fabry disease cardiomyopathy: an update on epidemiology, diagnostic approach, management and monitoring strategies","volume":"10","author":"Averbuch","year":"2023","journal-title":"Front. Cardiovasc. Med."},{"issue":"1","key":"10.1016\/j.ymgme.2026.110236_bb0060","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1186\/s13023-025-03922-x","article-title":"Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103\/150 characters)","volume":"20","author":"Hopkin","year":"2025","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2026.110236_bb0065","doi-asserted-by":"crossref","DOI":"10.3389\/fcvm.2025.1536114","article-title":"Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs","volume":"12","author":"Tuttolomondo","year":"2025","journal-title":"Front. Cardiovasc. Med."},{"issue":"1","key":"10.1016\/j.ymgme.2026.110236_bb0070","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1186\/s13023-022-02215-x","article-title":"Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective","volume":"17","author":"Ezgu","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"issue":"2","key":"10.1016\/j.ymgme.2026.110236_bb0075","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/s11897-024-00645-1","article-title":"Fabry disease: cardiac implications and molecular mechanisms","volume":"21","author":"Weissman","year":"2024","journal-title":"Curr. Heart Fail. Rep."},{"issue":"2","key":"10.1016\/j.ymgme.2026.110236_bb0080","first-page":"4","article-title":"A review of Fabry disease","volume":"23","author":"Chan","year":"2018","journal-title":"Skin Ther. Lett."},{"issue":"6","key":"10.1016\/j.ymgme.2026.110236_bb0085","doi-asserted-by":"crossref","DOI":"10.3390\/jpm13060904","article-title":"Ophthalmic manifestations in Fabry disease: updated review","volume":"13","author":"Gambini","year":"2023","journal-title":"J. Pers. Med."},{"key":"10.1016\/j.ymgme.2026.110236_bb0090","article-title":"Clinical characteristics, renal involvement, and therapeutic options of pediatric patients with Fabry disease","volume":"10","author":"Muntean","year":"2022","journal-title":"Front. Pediatr."},{"key":"10.1016\/j.ymgme.2026.110236_bb0095","doi-asserted-by":"crossref","DOI":"10.3389\/fcvm.2024.1420067","article-title":"Inflammation in Fabry disease: stages, molecular pathways, and therapeutic implications","volume":"11","author":"Kurdi","year":"2024","journal-title":"Front. Cardiovasc. Med."},{"issue":"12","key":"10.1016\/j.ymgme.2026.110236_bb0100","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCIMAGING.119.009430","article-title":"Myocardial storage, inflammation, and cardiac phenotype in Fabry disease after one year of enzyme replacement therapy","volume":"12","author":"Nordin","year":"2019","journal-title":"Circ. Cardiovasc. Imag."},{"issue":"15","key":"10.1016\/j.ymgme.2026.110236_bb0105","doi-asserted-by":"crossref","first-page":"7054","DOI":"10.3390\/ijms26157054","article-title":"Fabry disease beyond storage: the role of inflammation in disease progression","volume":"26","author":"Biddeci","year":"2025","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ymgme.2026.110236_bb0110","first-page":"65","article-title":"GADYTEF (Grupo Argentino de Diagn\u00f3stico y Tratamiento de la Enfermedad de Fabry). Effectiveness of enzyme replacement therapy in Fabry disease: long term experience in Argentina","volume":"11","author":"Cabrera","year":"2017","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"3","key":"10.1016\/j.ymgme.2026.110236_bb0115","doi-asserted-by":"crossref","first-page":"624","DOI":"10.3390\/biomedicines13030624","article-title":"Fabry disease: insights into pathophysiology and novel therapeutic strategies","volume":"13","author":"Thompson","year":"2025","journal-title":"Biomedicines"},{"issue":"5","key":"10.1016\/j.ymgme.2026.110236_bb0120","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1007\/s40265-019-01090-4","article-title":"Migalastat: a review in Fabry disease","volume":"79","author":"McCafferty","year":"2019","journal-title":"Drugs"},{"issue":"1","key":"10.1016\/j.ymgme.2026.110236_bb0125","doi-asserted-by":"crossref","first-page":"126","DOI":"10.7150\/ijms.66448","article-title":"Fabry disease and the effectiveness of enzyme replacement therapy (ERT) in left ventricular hypertrophy (LVH) improvement: a review and meta-analysis","volume":"19","author":"Lee","year":"2022","journal-title":"Int. J. Med. Sci."},{"issue":"10","key":"10.1016\/j.ymgme.2026.110236_bb0130","doi-asserted-by":"crossref","DOI":"10.3390\/biom12101460","article-title":"An overview of molecular mechanisms in Fabry disease","volume":"12","author":"Amodio","year":"2022","journal-title":"Biomolecules"},{"issue":"2","key":"10.1016\/j.ymgme.2026.110236_bb0135","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgme.2025.109110","article-title":"The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: a systematic literature review","volume":"145","author":"Ramaswami","year":"2025","journal-title":"Mol. Genet. Metab."},{"issue":"11","key":"10.1016\/j.ymgme.2026.110236_bb0140","doi-asserted-by":"crossref","DOI":"10.1172\/JCI157782","article-title":"Accumulation of \u03b1-synuclein mediates podocyte injury in Fabry nephropathy","volume":"133","author":"Braun","year":"2023","journal-title":"J. Clin. Invest."},{"issue":"3","key":"10.1016\/j.ymgme.2026.110236_bb0145","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.ymgme.2011.06.021","article-title":"Cystatin C and NT-proBNP as prognostic biomarkers in Fabry disease","volume":"104","author":"Torralba-Cabeza","year":"2011","journal-title":"Mol. Genet. Metab."},{"issue":"4","key":"10.1016\/j.ymgme.2026.110236_bb0150","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1159\/000500570","article-title":"Evaluation of Beta 2-microglobulin, cystatin C, and Lipocalin-2 as renal biomarkers for patients with Fabry disease","volume":"143","author":"Braga","year":"2019","journal-title":"Nephron"},{"issue":"1","key":"10.1016\/j.ymgme.2026.110236_bb0155","doi-asserted-by":"crossref","DOI":"10.1080\/07853890.2023.2203516","article-title":"Association of beta-2-microglobulin, cystatin C and lipocalin-2 with stroke risk in the general Chinese population","volume":"55","author":"Zhen","year":"2023","journal-title":"Ann. Med."},{"key":"10.1016\/j.ymgme.2026.110236_bb0160","article-title":"Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population","volume":"38","author":"Werner","year":"2024","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"5","key":"10.1016\/j.ymgme.2026.110236_bb0165","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1161\/CIRCIMAGING.113.000482","article-title":"T\u2081 mapping with cardiovascular MRI is highly sensitive for Fabry disease independent of hypertrophy and sex","volume":"6","author":"Thompson","year":"2013","journal-title":"Circ. Cardiovasc. Imag."},{"issue":"6","key":"10.1016\/j.ymgme.2026.110236_bb0170","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1007\/s13244-018-0664-8","article-title":"Neuroimaging in Fabry disease: current knowledge and future directions","volume":"9","author":"Cocozza","year":"2018","journal-title":"Insights Imag."},{"issue":"12","key":"10.1016\/j.ymgme.2026.110236_bb0175","doi-asserted-by":"crossref","first-page":"2264","DOI":"10.3174\/ajnr.A5420","article-title":"Redefining the Pulvinar sign in Fabry disease","volume":"38","author":"Cocozza","year":"2017","journal-title":"AJNR Am. J. Neuroradiol."},{"issue":"11","key":"10.1016\/j.ymgme.2026.110236_bb0180","doi-asserted-by":"crossref","first-page":"3331","DOI":"10.1093\/brain\/awaa282","article-title":"White matter integrity correlates with cognition and disease severity in Fabry disease","volume":"143","author":"Ulivi","year":"2020","journal-title":"Brain J. Neurol."},{"issue":"3","key":"10.1016\/j.ymgme.2026.110236_bb0185","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1007\/s00415-020-10209-7","article-title":"MRI-visible perivascular spaces as an imaging biomarker in Fabry disease","volume":"268","author":"Lyndon","year":"2021","journal-title":"J. Neurol."},{"issue":"8","key":"10.1016\/j.ymgme.2026.110236_bb0200","doi-asserted-by":"crossref","DOI":"10.3390\/cells13080654","article-title":"Inflammation and exosomes in Fabry disease pathogenesis","volume":"13","author":"Coelho-Ribeiro","year":"2024","journal-title":"Cells"},{"issue":"3","key":"10.1016\/j.ymgme.2026.110236_bb0205","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ymgme.2008.06.016","article-title":"Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells","volume":"95","author":"Shen","year":"2008","journal-title":"Mol. Genet. Metab."},{"issue":"6","key":"10.1016\/j.ymgme.2026.110236_bb0210","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1038\/s41581-023-00723-y","article-title":"Key role of \u03b1-synuclein in Fabry nephropathy","volume":"19","author":"Carney","year":"2023","journal-title":"Nat. Rev. Nephrol."},{"key":"10.1016\/j.ymgme.2026.110236_bb0215","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2024.1367252","article-title":"Inflammatory cytokine expression in Fabry disease: impact of disease phenotype and alterations under enzyme replacement therapy","volume":"15","author":"Yuan","year":"2024","journal-title":"Front. Immunol."},{"issue":"1","key":"10.1016\/j.ymgme.2026.110236_bb0220","doi-asserted-by":"crossref","first-page":"23033","DOI":"10.1038\/s41598-024-73537-y","article-title":"Investigation of serum neurofilament light chain as a biomarker in Fabry disease","volume":"14","author":"Ponleitner","year":"2024","journal-title":"Sci. Rep."},{"issue":"4","key":"10.1016\/j.ymgme.2026.110236_bb0225","doi-asserted-by":"crossref","first-page":"276","DOI":"10.5582\/irdr.2021.01115","article-title":"Serum neurofilament light chain is not a useful biomarker of central nervous system involvement in women with Fabry disease","volume":"10","author":"Ho\u0142ub","year":"2021","journal-title":"Intractable Rare Dis. Res."},{"issue":"4","key":"10.1016\/j.ymgme.2026.110236_bb0230","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/j.ymgme.2018.10.007","article-title":"Dissociation of globotriaosylceramide and impaired endothelial function in \u03b1-galactosidase-A deficient EA.hy926 cells","volume":"125","author":"Kaissarian","year":"2018","journal-title":"Mol. Genet. Metab."},{"issue":"8","key":"10.1016\/j.ymgme.2026.110236_bb0235","doi-asserted-by":"crossref","first-page":"2812","DOI":"10.1073\/pnas.0712309105","article-title":"Elevated globotriaosylsphingosine is a hallmark of Fabry disease","volume":"105","author":"Aerts","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"issue":"5","key":"10.1016\/j.ymgme.2026.110236_bb0240","doi-asserted-by":"crossref","DOI":"10.3390\/jcm12052063","article-title":"Biochemical mechanisms beyond glycosphingolipid accumulation in Fabry disease: might they provide additional therapeutic treatments","volume":"12","author":"Bertoldi","year":"2023","journal-title":"J. Clin. Med."},{"issue":"5","key":"10.1016\/j.ymgme.2026.110236_bb0245","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1038\/s41419-022-04906-6","article-title":"Mitochondrial autophagy: molecular mechanisms and implications for cardiovascular disease","volume":"13","author":"Li","year":"2022","journal-title":"Cell Death Dis."},{"key":"10.1016\/j.ymgme.2026.110236_bb0250","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2024.1307558","article-title":"Complement activation and cellular inflammation in Fabry disease patients despite enzyme replacement therapy","volume":"15","author":"Laffer","year":"2024","journal-title":"Front. Immunol."},{"issue":"1","key":"10.1016\/j.ymgme.2026.110236_bb0255","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-025-03994-9","article-title":"Functional and histopathologic correlation in the Fabry nephropathy with N215S genotype","volume":"20","author":"Mignani","year":"2025","journal-title":"Orphanet J. Rare Dis."},{"issue":"5","key":"10.1016\/j.ymgme.2026.110236_bb0260","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1053\/j.ajkd.2023.03.015","article-title":"Fabry disease nephropathy: histological changes with nonclassical mutations and genetic variants of unknown significance","volume":"82","author":"Santostefano","year":"2023","journal-title":"Am. J. Kidney Diseas."},{"issue":"11","key":"10.1016\/j.ymgme.2026.110236_bb0265","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0325403","article-title":"The insidious degeneration of white matter and cognitive decline in Fabry disease","volume":"20","author":"Johnson","year":"2025","journal-title":"PLoS One"},{"issue":"1","key":"10.1016\/j.ymgme.2026.110236_bb0270","doi-asserted-by":"crossref","DOI":"10.3390\/ijms25010061","article-title":"Molecular pathogenesis of central and peripheral nervous system complications in Anderson-Fabry disease","volume":"25","author":"Tuttolomondo","year":"2023","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ymgme.2026.110236_bb0275","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.parkreldis.2018.07.011","article-title":"Striatonigral involvement in Fabry disease: a quantitative and volumetric magnetic resonance imaging study","volume":"57","author":"Russo","year":"2018","journal-title":"Parkinsonism Relat. Disord."},{"issue":"3","key":"10.1016\/j.ymgme.2026.110236_bb0280","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1016\/j.neuroimage.2012.05.049","article-title":"Quantitative susceptibility mapping (QSM) as a means to measure brain iron? A postmortem validation study","volume":"62","author":"Langkammer","year":"2012","journal-title":"Neuroimage"},{"issue":"8","key":"10.1016\/j.ymgme.2026.110236_bb0285","doi-asserted-by":"crossref","first-page":"743","DOI":"10.3390\/antiox9080743","article-title":"ROS generation in microglia: understanding oxidative stress and inflammation in neurodegenerative disease","volume":"9","author":"Simpson","year":"2020","journal-title":"Antioxid Basel Switz."},{"issue":"13","key":"10.1016\/j.ymgme.2026.110236_bb0290","doi-asserted-by":"crossref","DOI":"10.3390\/ijms20133161","article-title":"Recent developments in TSPO PET imaging as a biomarker of neuroinflammation in neurodegenerative disorders","volume":"20","author":"Werry","year":"2019","journal-title":"Int. J. Mol. Sci."},{"issue":"8","key":"10.1016\/j.ymgme.2026.110236_bb0295","doi-asserted-by":"crossref","DOI":"10.3390\/biom15081179","article-title":"Complement cascades and brain disorders","volume":"15","author":"Jov\u010devska","year":"2025","journal-title":"Biomolecules"},{"key":"10.1016\/j.ymgme.2026.110236_bb0300","doi-asserted-by":"crossref","DOI":"10.3389\/fncel.2021.710390","article-title":"Interaction between the complement system and infectious agents - a potential mechanistic link to neurodegeneration and dementia","volume":"15","author":"Shinjyo","year":"2021","journal-title":"Front. Cell. Neurosci."},{"issue":"9","key":"10.1016\/j.ymgme.2026.110236_bb0305","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0204618","article-title":"Oxidative stress and the altered reaction to it in Fabry disease: a possible target for cardiovascular-renal remodeling?","volume":"13","author":"Ravarotto","year":"2018","journal-title":"PLoS One"},{"issue":"4","key":"10.1016\/j.ymgme.2026.110236_bb0310","article-title":"Mitochondrial dysfunction in endothelial cells: a key driver of organ disorders and aging","volume":"14","author":"Grossini","year":"2025","journal-title":"Antioxidants (Basel)"},{"issue":"1","key":"10.1016\/j.ymgme.2026.110236_bb0315","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0210617","article-title":"Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases","volume":"14","author":"Ivanova","year":"2019","journal-title":"PLoS One"},{"issue":"5","key":"10.1016\/j.ymgme.2026.110236_bb0320","doi-asserted-by":"crossref","first-page":"718","DOI":"10.3390\/biom11050718","article-title":"Alpha-synuclein and mitochondrial dysfunction in Parkinson\u2019s disease: the emerging role of VDAC","volume":"11","author":"Risiglione","year":"2021","journal-title":"Biomolecules"},{"issue":"1","key":"10.1016\/j.ymgme.2026.110236_bb0325","doi-asserted-by":"crossref","DOI":"10.1007\/s00018-024-05419-5","article-title":"Lysosomal dysfunction in \u03b1-synuclein pathology: molecular mechanisms and therapeutic strategies","volume":"81","author":"Dai","year":"2024","journal-title":"Cell. Mol. Life Sci."},{"issue":"7","key":"10.1016\/j.ymgme.2026.110236_bb0330","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1073\/pnas.1520335113","article-title":"\u03b1-Synuclein-induced lysosomal dysfunction occurs through disruptions in protein trafficking in human midbrain synucleinopathy models","volume":"113","author":"Mazzulli","year":"2016","journal-title":"Proc. Natl. Acad. Sci. USA"},{"issue":"20","key":"10.1016\/j.ymgme.2026.110236_bb0335","doi-asserted-by":"crossref","DOI":"10.3390\/ijms222011234","article-title":"Dopamine transporter imaging, current status of a potential biomarker: a comprehensive review","volume":"22","author":"Palermo","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ymgme.2026.110236_bb0340","doi-asserted-by":"crossref","DOI":"10.1186\/s13024-016-0072-9","article-title":"Oligomeric and phosphorylated alpha-synuclein as potential CSF biomarkers for Parkinson\u2019s disease","volume":"11","author":"Majbour","year":"2016","journal-title":"Mol. Neurodegener."},{"issue":"21","key":"10.1016\/j.ymgme.2026.110236_bb0345","doi-asserted-by":"crossref","DOI":"10.3390\/ijms232113488","article-title":"Cerebrospinal fluid alpha-synuclein improves the differentiation between dementia with Lewy bodies and Alzheimer\u2019s disease in clinical practice","volume":"23","author":"Lilamand","year":"2022","journal-title":"Int. J. Mol. Sci."},{"issue":"1","key":"10.1016\/j.ymgme.2026.110236_bb0350","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1111\/cge.12613","article-title":"X-chromosome inactivation in female patients with Fabry disease","volume":"89","author":"Echevarria","year":"2016","journal-title":"Clin. Genet."},{"issue":"1","key":"10.1016\/j.ymgme.2026.110236_bb0355","doi-asserted-by":"crossref","DOI":"10.3390\/genes15010037","article-title":"Fabry disease in women: genetic basis, available biomarkers, and clinical manifestations","volume":"15","author":"Izhar","year":"2023","journal-title":"Genes"},{"issue":"4","key":"10.1016\/j.ymgme.2026.110236_bb0360","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.tcm.2017.10.001","article-title":"Fabry disease: review and experience during newborn screening","volume":"28","author":"Hsu","year":"2018","journal-title":"Trends Cardiovasc. Med."},{"issue":"5","key":"10.1016\/j.ymgme.2026.110236_bb0365","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1097\/j.pain.0000000000002152","article-title":"Fabry disease pain: patient and preclinical parallels","volume":"162","author":"Burand","year":"2021","journal-title":"Pain"},{"issue":"4","key":"10.1016\/j.ymgme.2026.110236_bb0370","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1111\/1346-8138.17690","article-title":"Cutaneous manifestations of Fabry disease: a systematic review","volume":"52","author":"Al-Chaer","year":"2025","journal-title":"J. Dermatol."},{"issue":"13","key":"10.1016\/j.ymgme.2026.110236_bb0375","doi-asserted-by":"crossref","DOI":"10.3390\/cells13131131","article-title":"Expanding the neurological phenotype of Anderson-Fabry disease: proof of concept for an extrapyramidal neurodegenerative pattern and comparison with monogenic vascular parkinsonism","volume":"13","author":"Zedde","year":"2024","journal-title":"Cells"},{"issue":"17","key":"10.1016\/j.ymgme.2026.110236_bb0390","doi-asserted-by":"crossref","DOI":"10.3390\/molecules29174212","article-title":"TSPO radioligands for neuroinflammation: an overview","volume":"29","author":"Salerno","year":"2024","journal-title":"Molecules"},{"issue":"11","key":"10.1016\/j.ymgme.2026.110236_bb0395","doi-asserted-by":"crossref","DOI":"10.3390\/brainsci12111428","article-title":"Neuroprotective effect of Angiopoietin2 is associated with angiogenesis in mouse brain following ischemic stroke","volume":"12","author":"Lv","year":"2022","journal-title":"Brain Sci."},{"key":"10.1016\/j.ymgme.2026.110236_bb0400","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2021.789142","article-title":"Endothelial dysfunction in Fabry disease is related to glycocalyx degradation","volume":"12","author":"Pollmann","year":"2021","journal-title":"Front. Immunol."},{"key":"10.1016\/j.ymgme.2026.110236_bb0405","doi-asserted-by":"crossref","DOI":"10.1177\/11772719251364018","article-title":"Advancing clinical use of neurofilament light chain: translational insights from research to routine practice","volume":"20","author":"La Civita","year":"2025","journal-title":"Biomark. Insights"},{"issue":"5","key":"10.1016\/j.ymgme.2026.110236_bb0410","doi-asserted-by":"crossref","DOI":"10.1002\/jimd.70075","article-title":"Biomarker validation in NPC1: foundations for clinical trials and regulatory alignment","volume":"48","author":"Casazza","year":"2025","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2026.110236_bb0415","article-title":"Neurofilament light (NfL) chain levels predict clinical decline in Alzheimer\u2019s disease: a systematic review and meta-analysis","volume":"9","author":"Thomas","year":"2025","journal-title":"J. Alzheimers Dis. Rep."},{"issue":"3","key":"10.1016\/j.ymgme.2026.110236_bb0420","doi-asserted-by":"crossref","first-page":"100349","DOI":"10.1016\/j.gim.2022.11.017","article-title":"Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1","volume":"25","author":"Agrawal","year":"2023","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2026.110236_bb0425","article-title":"Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients","volume":"30","author":"Welford","year":"2022","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"1","key":"10.1016\/j.ymgme.2026.110236_bb0430","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1093\/brain\/awad267","article-title":"The potential of blood neurofilament light as a marker of neurodegeneration for Alzheimer\u2019s disease","volume":"147","author":"Jung","year":"2024","journal-title":"Brain J. Neurol."},{"issue":"5","key":"10.1016\/j.ymgme.2026.110236_bb0435","doi-asserted-by":"crossref","first-page":"4811","DOI":"10.1016\/j.ijcard.2013.07.014","article-title":"Serum beta-2 microglobulin concentration predicts cardiovascular and all-cause mortality","volume":"168","author":"Cheung","year":"2013","journal-title":"Int. J. Cardiol."},{"issue":"2","key":"10.1016\/j.ymgme.2026.110236_bb0440","doi-asserted-by":"crossref","first-page":"43","DOI":"10.31083\/j.rcm2402043","article-title":"Association of Beta-2 microglobulin with stroke and all-cause mortality in adults aged \u226540 in U.S.: NHANES III","volume":"24","author":"Zhang","year":"2023","journal-title":"Rev. Cardiovasc. Med."},{"key":"10.1016\/j.ymgme.2026.110236_bb0445","article-title":"Association of Beta-2-microglobulin with coronary heart disease and all-cause mortality in the United States general population","volume":"9","author":"Huang","year":"2022","journal-title":"Front. Cardiovasc. Med."},{"issue":"1","key":"10.1016\/j.ymgme.2026.110236_bb0450","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1007\/s10571-024-01481-6","article-title":"The role of Beta2-microglobulin in central nervous system disease","volume":"44","author":"Liu","year":"2024","journal-title":"Cell. Mol. Neurobiol."},{"key":"10.1016\/j.ymgme.2026.110236_bb0455","article-title":"\u03b22-microglobulin is a novel and reliable biomarker for predicting ischemic stroke recurrence: a prospective cohort study","volume":"13","author":"Hu","year":"2022","journal-title":"Front. Pharmacol."},{"issue":"1\u20132","key":"10.1016\/j.ymgme.2026.110236_bb0460","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.ymgme.2016.10.006","article-title":"Plasma LysoGb3: a useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes","volume":"120","author":"Nowak","year":"2017","journal-title":"Mol. Genet. Metab."},{"issue":"15","key":"10.1016\/j.ymgme.2026.110236_bb0465","doi-asserted-by":"crossref","first-page":"8273","DOI":"10.3390\/ijms25158273","article-title":"Inflammation, oxidative stress, and endothelial dysfunction in the pathogenesis of vascular damage: unraveling novel cardiovascular risk factors in Fabry disease","volume":"25","author":"Faro","year":"2024","journal-title":"Int. J. Mol. Sci."},{"issue":"8","key":"10.1016\/j.ymgme.2026.110236_bb0470","doi-asserted-by":"crossref","first-page":"2873","DOI":"10.1073\/pnas.0611315104","article-title":"Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities","volume":"104","author":"Moore","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"issue":"20","key":"10.1016\/j.ymgme.2026.110236_bb0475","doi-asserted-by":"crossref","DOI":"10.3390\/ijms242015422","article-title":"Endothelial cell dysfunction and hypoxia as potential mediators of pain in Fabry disease: a human-murine translational approach","volume":"24","author":"Klug","year":"2023","journal-title":"Int. J. Mol. Sci."},{"issue":"10","key":"10.1016\/j.ymgme.2026.110236_bb0480","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.3174\/ajnr.A8001","article-title":"Progressive changes in cerebral apparent diffusion values in Fabry disease: a 5-year follow-up MRI study","volume":"44","author":"Baas","year":"2023","journal-title":"AJNR Am. J. Neuroradiol."},{"issue":"6","key":"10.1016\/j.ymgme.2026.110236_bb0485","doi-asserted-by":"crossref","first-page":"1611","DOI":"10.1002\/jmri.24952","article-title":"Detecting the effects of Fabry disease in the adult human brain with diffusion tensor imaging and fast bound-pool fraction imaging","volume":"42","author":"Underhill","year":"2015","journal-title":"J. Magn. Reson. Imag."},{"issue":"3","key":"10.1016\/j.ymgme.2026.110236_bb0490","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.brainresbull.2003.09.021","article-title":"White matter lesions in Fabry disease occur in \u201cprior\u201d selectively hypometabolic and hyperperfused brain regions","volume":"62","author":"Moore","year":"2003","journal-title":"Brain Res. Bull."},{"issue":"4","key":"10.1016\/j.ymgme.2026.110236_bb0495","doi-asserted-by":"crossref","DOI":"10.1093\/braincomms\/fcac187","article-title":"Structural disconnection and functional reorganization in Fabry disease: a multimodal MRI study","volume":"4","author":"Gabusi","year":"2022","journal-title":"Brain Commun."},{"issue":"1","key":"10.1016\/j.ymgme.2026.110236_bb0500","doi-asserted-by":"crossref","DOI":"10.1002\/jimd.12833","article-title":"Unifying biology of neurodegeneration in lysosomal storage diseases","volume":"48","author":"Ludlaim","year":"2025","journal-title":"J. Inherit. Metab. Dis."},{"issue":"11","key":"10.1016\/j.ymgme.2026.110236_bb0505","doi-asserted-by":"crossref","first-page":"2598","DOI":"10.3390\/biomedicines13112598","article-title":"Exosome-based proteomic profiling for biomarker discovery in pediatric Fabry disease: insights into early diagnosis monitoring","volume":"13","author":"Lu","year":"2025","journal-title":"Biomedicines"},{"issue":"5","key":"10.1016\/j.ymgme.2026.110236_bb0510","doi-asserted-by":"crossref","DOI":"10.3390\/genes16050601","article-title":"Transcriptomic approach in understanding Fabry nephropathy: a review of the literature and proof-of-concept","volume":"16","author":"Breznik","year":"2025","journal-title":"Genes"},{"issue":"1","key":"10.1016\/j.ymgme.2026.110236_bb0515","doi-asserted-by":"crossref","DOI":"10.1002\/ctm2.70073","article-title":"Lentivirus-mediated gene therapy for Fabry disease: 5-year end-of-study results from the Canadian FACTs trial","volume":"15","author":"Khan","year":"2025","journal-title":"Clin. Transl. Med."},{"key":"10.1016\/j.ymgme.2026.110236_bb0520","series-title":"Rare Diseases: Considerations for the Development of Drugs and Biological Products: Guidance for Industry","author":"US Food and Drug Administration","year":"2023"},{"issue":"1","key":"10.1016\/j.ymgme.2026.110236_bb0525","article-title":"Biomarkers for neurodegenerative diseases in regulatory decision-making by the European medicines agency","volume":"11","author":"Hermans","year":"2025","journal-title":"Alzheimer. Dement. Transl. Res. Clin. Interv."},{"key":"10.1016\/j.ymgme.2026.110236_bb0530","series-title":"Qualification of Novel Methodologies for Medicine Development","author":"European Medicines Agency","year":"2020"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719226005196?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719226005196?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T20:35:47Z","timestamp":1790368547000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719226005196"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":102,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["S1096719226005196"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2026.110236","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Central nervous system biomarkers in Fabry disease: Mechanisms, clinical evidence, and translational integration","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2026.110236","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"110236"}}