{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T13:41:17Z","timestamp":1784641277821,"version":"3.55.0"},"reference-count":89,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,1,28]],"date-time":"2023-01-28T00:00:00Z","timestamp":1674864000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1RO1EY023557-01"],"award-info":[{"award-number":["1RO1EY023557-01"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P30 EY001583"],"award-info":[{"award-number":["P30 EY001583"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"Vision Research Core Grant","doi-asserted-by":"publisher","award":["1RO1EY023557-01"],"award-info":[{"award-number":["1RO1EY023557-01"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"Vision Research Core Grant","doi-asserted-by":"publisher","award":["P30 EY001583"],"award-info":[{"award-number":["P30 EY001583"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"name":"F.M. 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Throughout the published literature, researchers have highlighted similarities associated with various aspects of both diseases. In light of the increasing number of findings reporting resemblance between the two neurodegenerative processes, scientists have grown interested in possible underlying connections between AD and POAG. In the search for explanations to fundamental mechanisms, a multitude of genes have been studied in each condition, with overlap in the genes of interest between AD and POAG. Greater understanding of genetic factors can drive the research process of identifying relationships and elucidating common pathways of disease. These connections can then be utilized to advance research as well as to generate new clinical applications. Notably, AD and glaucoma are currently diseases with irreversible consequences that often lack effective therapies. An established genetic connection between AD and POAG would serve as the basis for development of gene or pathway targeted strategies relevant to both diseases. Such a clinical application could be of immense benefit to researchers, clinicians, and patients alike. This paper aims to summarize the genetic associations between AD and POAG, describe common underlying mechanisms, discuss potential areas of application, and organize the findings in a review.<\/jats:p>","DOI":"10.3390\/genes14020338","type":"journal-article","created":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T06:06:13Z","timestamp":1675058773000},"page":"338","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Genetic Factors Implicated in the Investigation of Possible Connections between Alzheimer\u2019s Disease and Primary Open Angle Glaucoma"],"prefix":"10.3390","volume":"14","author":[{"given":"Grace","family":"Kuang","sequence":"first","affiliation":[{"name":"Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Salowe","sequence":"additional","affiliation":[{"name":"Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan","family":"O\u2019Brien","sequence":"additional","affiliation":[{"name":"Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"a006239","DOI":"10.1101\/cshperspect.a006239","article-title":"Epidemiology of Alzheimer Disease","volume":"2","author":"Mayeux","year":"2012","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"ref_2","first-page":"e11686","article-title":"Epidemiology of Glaucoma: The Past, Present, and Predictions for the Future","volume":"12","author":"Allison","year":"2020","journal-title":"Cureus"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1111\/j.1442-9071.2012.02773.x","article-title":"Definition of glaucoma: Clinical and experimental concepts","volume":"40","author":"Casson","year":"2012","journal-title":"Clin. Exp. Ophthalmol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1212\/WNL.0000000000009058","article-title":"Biological subtypes of Alzheimer disease: A systematic review and meta-analysis","volume":"94","author":"Ferreira","year":"2020","journal-title":"Neurology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1002\/alz.12509","article-title":"Black and White individuals differ in dementia prevalence, risk factors, and symptomatic presentation","volume":"18","author":"Lennon","year":"2021","journal-title":"Alzheimer\u2019s Dement."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"4254","DOI":"10.1167\/iovs.06-0299","article-title":"Variations in Primary Open-Angle Glaucoma Prevalence by Age, Gender, and Race: A Bayesian Meta-Analysis","volume":"47","author":"Rudnicka","year":"2006","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"a017277","DOI":"10.1101\/cshperspect.a017277","article-title":"Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications","volume":"5","author":"Allen","year":"2015","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"21","DOI":"10.2147\/EB.S293765","article-title":"Glaucoma as Neurodegeneration in the Brain","volume":"13","author":"Chan","year":"2021","journal-title":"Eye Brain"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/jnr.24256","article-title":"Neuroinflammation and microglia in glaucoma: Time for a paradigm shift","volume":"97","author":"Wei","year":"2018","journal-title":"J. Neurosci. Res."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Mroczkowska, S., Shokr, H., Benavente-P\u00e9rez, A., Negi, A., Bentham, P., and Gherghel, D. (2022). Retinal Microvascular Dysfunction Occurs Early and Similarly in Mild Alzheimer\u2019s Disease and Primary-Open Angle Glaucoma Patients. J. Clin. Med., 11.","DOI":"10.3390\/jcm11226702"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1270","DOI":"10.1038\/eye.2015.158","article-title":"How strong is the relationship between glaucoma, the retinal nerve fibre layer, and neurodegenerative diseases such as Alzheimer\u2019s disease and multiple sclerosis?","volume":"29","author":"Hammond","year":"2015","journal-title":"Eye"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2758","DOI":"10.1167\/iovs.10-5682","article-title":"Automated Morphometry of the Visual Pathway in Primary Open-Angle Glaucoma","volume":"52","author":"Hernowo","year":"2011","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1038\/s41588-022-01024-z","article-title":"New insights into the genetic etiology of Alzheimer\u2019s disease and related dementias","volume":"54","author":"Bellenguez","year":"2022","journal-title":"Nat. Genet."},{"key":"ref_14","first-page":"225","article-title":"The Diagnosis and Treatment of Glaucoma","volume":"117","author":"Schuster","year":"2020","journal-title":"Dtsch. \u00c4rzteblatt Int."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.survophthal.2015.01.004","article-title":"The interactions of genes, age, and environment in glaucoma pathogenesis","volume":"60","author":"Doucette","year":"2015","journal-title":"Surv. Ophthalmol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"173554","DOI":"10.1016\/j.ejphar.2020.173554","article-title":"Alzheimer\u2019s disease: Recent treatment strategies","volume":"887","author":"Vaz","year":"2020","journal-title":"Eur. J. Pharmacol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"618986","DOI":"10.3389\/fncel.2020.618986","article-title":"Microvascular Alterations in Alzheimer\u2019s Disease","volume":"14","author":"Steinman","year":"2021","journal-title":"Front. Cell. Neurosci."},{"key":"ref_18","unstructured":"Gogineni, A. (2023, January 18). Brain Showing Hallmarks of Alzheimer\u2019s Disease (Plaques in Blue). Flickr. Available online: https:\/\/www.flickr.com\/photos\/nihgov\/26709211161\/."},{"key":"ref_19","unstructured":"National Institute on Aging, NIH (2023, January 18). \u03b2-Amyloid Plaques and Tau in the Brain. Flickr. Available online: https:\/\/www.flickr.com\/photos\/nihgov\/38686503251\/."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"18969","DOI":"10.1038\/srep18969","article-title":"Structural brain alterations in primary open angle glaucoma: A 3T MRI study","volume":"6","author":"Wang","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1038\/s41467-020-20851-4","article-title":"Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries","volume":"12","author":"Gharahkhani","year":"2021","journal-title":"Nat. Commun."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"880576","DOI":"10.3389\/fnagi.2022.880576","article-title":"Shared genetic architecture between the two neurodegenerative diseases: Alzheimer\u2019s disease and glaucoma","volume":"14","author":"Zheng","year":"2022","journal-title":"Front. Aging Neurosci."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1016\/S0733-8619(05)70051-7","article-title":"Dementia","volume":"19","author":"Volicer","year":"2001","journal-title":"Neurol. Clin."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1016\/j.amjmed.2018.01.022","article-title":"Dementia","volume":"131","author":"Gale","year":"2018","journal-title":"Am. J. Med."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1038\/s41591-021-01382-x","article-title":"Biomarkers for neurodegenerative diseases","volume":"27","author":"Hansson","year":"2021","journal-title":"Nat. Med."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.ncl.2017.01.005","article-title":"Early-Onset Alzheimer Disease","volume":"35","author":"Mendez","year":"2017","journal-title":"Neurol. Clin."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/s13024-019-0333-5","article-title":"The neuropathological diagnosis of Alzheimer\u2019s disease","volume":"14","author":"Dickson","year":"2019","journal-title":"Mol. Neurodegener."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"5541","DOI":"10.2147\/IJN.S200490","article-title":"Alzheimer\u2019s Disease: Pathogenesis, Diagnostics, and Therapeutics","volume":"14","author":"Tiwari","year":"2019","journal-title":"Int. J. Nanomed."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.12688\/f1000research.14506.1","article-title":"Current understanding of Alzheimer\u2019s disease diagnosis and treatment","volume":"7","author":"Weller","year":"2018","journal-title":"F1000Research"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1007\/s00401-016-1609-2","article-title":"Glaucoma: The retina and beyond","volume":"132","author":"Davis","year":"2016","journal-title":"Acta Neuropathol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.2147\/OPTH.S50231","article-title":"Comparison of SWAP and SAP on the point of glaucoma conversion","volume":"7","author":"Havvas","year":"2013","journal-title":"Clin. Ophthalmol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"3468","DOI":"10.1167\/iovs.14-13902","article-title":"An Investigation of Lateral Geniculate Nucleus Volume in Patients With Primary Open-Angle Glaucoma Using 7 Tesla Magnetic Resonance Imaging","volume":"55","author":"Lee","year":"2014","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/s40662-020-00181-8","article-title":"In vivo confocal microscopy: Qualitative investigation of the conjunctival and corneal surface in open angle glaucomatous patients undergoing the XEN-Gel implant, trabeculectomy or medical therapy","volume":"7","author":"Baiocchi","year":"2020","journal-title":"Eye Vis."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1510","DOI":"10.1038\/s41433-019-0447-6","article-title":"Intraoperative real-time image-guided ab externo canaloplasty","volume":"33","author":"FFrisina","year":"2019","journal-title":"Eye"},{"key":"ref_35","unstructured":"Bales, T.R., Lopez, M.J., and Clark, J. (2022, November 26). Embryology, Eye, StatPearls, Available online: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK538480\/."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.12659\/MSM.914889","article-title":"Peripapillary Retinal Nerve Fiber Layer Thickness in Patients with Alzheimer\u2019s Disease: A Comparison of Eyes of Patients with Alzheimer\u2019s Disease, Primary Open-Angle Glaucoma, and Preperimetric Glaucoma and Healthy Controls","volume":"25","author":"Zabel","year":"2019","journal-title":"Med. Sci. Monit."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1001\/archopht.1991.01080020045040","article-title":"Optic Nerve Head and Nerve Fiber Layer in Alzheimer\u2019s Disease","volume":"109","author":"Tsai","year":"1991","journal-title":"Arch. Ophthalmol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1186\/s40478-020-01094-2","article-title":"Retinal ganglion cell degeneration correlates with hippocampal spine loss in experimental Alzheimer\u2019s disease","volume":"8","author":"Bevan","year":"2020","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"e6139","DOI":"10.1097\/MD.0000000000006139","article-title":"Structural and functional brain changes in early- and mid-stage primary open-angle glaucoma using voxel-based morphometry and functional magnetic resonance imaging","volume":"96","author":"Jiang","year":"2017","journal-title":"Medicine"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"5434","DOI":"10.1167\/iovs.17-22312","article-title":"Elevated Intraocular Pressure Induces Amyloid-\u03b2 Deposition and Tauopathy in the Lateral Geniculate Nucleus in a Monkey Model of Glaucoma","volume":"58","author":"Yan","year":"2017","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_41","first-page":"1077","article-title":"Caspase activation and amyloid precursor protein cleavage in rat ocular hypertension","volume":"43","author":"McKinnon","year":"2002","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1546","DOI":"10.1038\/s41433-020-0836-x","article-title":"Neurodegeneration in Alzheimer\u2019s disease and glaucoma: Overlaps and missing links","volume":"34","author":"Sen","year":"2020","journal-title":"Eye"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"63","DOI":"10.3233\/JAD-2005-7107","article-title":"Impaired Insulin and Insulin-Like Growth Factor Expression and Signaling Mechanisms in Alzheimer\u2019s Disease\u2014Is this Type 3 Diabetes?","volume":"7","author":"Steen","year":"2005","journal-title":"J. Alzheimer\u2019s Dis."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1002\/dmrr.529","article-title":"Elevated intraocular pressure is associated with insulin resistance and metabolic syndrome","volume":"21","author":"Oh","year":"2005","journal-title":"Diabetes\/Metabolism Res. Rev."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1038\/s41593-018-0329-4","article-title":"Neutrophil adhesion in brain capillaries reduces cortical blood flow and impairs memory function in Alzheimer\u2019s disease mouse models","volume":"22","author":"Bracko","year":"2019","journal-title":"Nat. Neurosci."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"2515841419868100","DOI":"10.1177\/2515841419868100","article-title":"Microvascular endothelial function and primary open angle glaucoma","volume":"11","author":"Bukhari","year":"2019","journal-title":"Ther. Adv. Ophthalmol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"3447","DOI":"10.1167\/iovs.19-27028","article-title":"Comparison of Retinal Microvasculature in Patients With Alzheimer\u2019s Disease and Primary Open-Angle Glaucoma by Optical Coherence Tomography Angiography","volume":"60","author":"Zabel","year":"2019","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1136\/bjophthalmol-2020-317461","article-title":"Normal-tension glaucoma is associated with cognitive impairment","volume":"106","author":"Mullany","year":"2021","journal-title":"Br. J. Ophthalmol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"e2833","DOI":"10.1097\/MD.0000000000002833","article-title":"Association Between Glaucoma and the Risk of Dementia","volume":"95","author":"Su","year":"2016","journal-title":"Medicine"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1111\/aos.14114","article-title":"Association between glaucoma and the risk of Alzheimer\u2019s disease: A systematic review of observational studies","volume":"97","author":"Xu","year":"2019","journal-title":"Acta Ophthalmol."},{"key":"ref_51","doi-asserted-by":"crossref","unstructured":"Lin, I.-C., Wang, Y.-H., Wang, T.-J., Wang, I.-J., Shen, Y.-D., Chi, N.-F., and Chien, L.-N. (2014). Glaucoma, Alzheimer\u2019s Disease, and Parkinson\u2019s Disease: An 8-Year Population-Based Follow-Up Study. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0108938"},{"key":"ref_52","first-page":"47","article-title":"No Increased Risk of Developing Alzheimer Disease in Patients With Glaucoma","volume":"16","author":"Kessing","year":"2007","journal-title":"Eur. J. Gastroenterol. Hepatol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"688551","DOI":"10.3389\/fmed.2021.688551","article-title":"Glaucoma Is Not Associated With Alzheimer\u2019s Disease or Dementia: A Meta-Analysis of Cohort Studies","volume":"8","author":"Zhao","year":"2021","journal-title":"Front. Med."},{"key":"ref_54","first-page":"227","article-title":"Incidence of Dementia in Patients With Open-angle Glaucoma: A Population-based Study","volume":"30","author":"Belamkar","year":"2020","journal-title":"Eur. J. Gastroenterol. Hepatol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"e011146","DOI":"10.1136\/bmjopen-2016-011146","article-title":"Prevalence and determinants of undetected dementia in the community: A systematic literature review and a meta-analysis","volume":"7","author":"Lang","year":"2017","journal-title":"BMJ Open"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1590\/S0004-27492011000200001","article-title":"Managing glaucoma in developing countries","volume":"74","author":"Leite","year":"2011","journal-title":"Arq. Bras. Oftalmol."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.ajo.2007.09.013","article-title":"Factors Associated with Undiagnosed Open-Angle Glaucoma: The Thessaloniki Eye Study","volume":"145","author":"Topouzis","year":"2008","journal-title":"Am. J. Ophthalmol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1097\/WAD.0b013e3181a6bebc","article-title":"Missed and Delayed Diagnosis of Dementia in Primary Care: Prevalence and Contributing Factors","volume":"23","author":"Bradford","year":"2009","journal-title":"Alzheimer Dis. Assoc. Disord."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1038\/ng.3087","article-title":"Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma","volume":"46","author":"Hysi","year":"2014","journal-title":"Nat. Genet."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"474","DOI":"10.4161\/rna.7.4.12345","article-title":"The role of CELF proteins in neurological disorders","volume":"7","author":"Gallo","year":"2010","journal-title":"RNA Biol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1186\/s13024-018-0277-1","article-title":"PU.1 regulates Alzheimer\u2019s disease-associated genes in primary human microglia","volume":"13","author":"Rustenhoven","year":"2018","journal-title":"Mol. Neurodegener."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1084\/jem.184.1.61","article-title":"The transcription factor PU.1 is involved in macrophage proliferation","volume":"184","author":"Celada","year":"1996","journal-title":"J. Exp. Med."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"14935","DOI":"10.1038\/s41598-021-94324-z","article-title":"Modest changes in Spi1 dosage reveal the potential for altered microglial function as seen in Alzheimer\u2019s disease","volume":"11","author":"Jones","year":"2021","journal-title":"Sci. Rep."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"5785","DOI":"10.1523\/JNEUROSCI.3986-15.2016","article-title":"Tau Accumulation, Altered Phosphorylation, and Missorting Promote Neurodegeneration in Glaucoma","volume":"36","author":"Chiasseu","year":"2016","journal-title":"J. Neurosci."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.2337\/db21-0969","article-title":"Blood Neuroexosomal Mitochondrial Proteins Predict Alzheimer Disease in Diabetes","volume":"71","author":"Chi","year":"2022","journal-title":"Diabetes"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1038\/s41374-019-0197-x","article-title":"MAPT Mutations, Tauopathy, and Mechanisms of Neurodegeneration","volume":"99","author":"Strang","year":"2019","journal-title":"Lab. Investig."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"e11861","DOI":"10.15252\/emmm.201911861","article-title":"Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress","volume":"12","author":"Ebstein","year":"2020","journal-title":"EMBO Mol. Med."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"4902","DOI":"10.1128\/MCB.05629-11","article-title":"A Critical Role of Mitochondrial Phosphatase Ptpmt1 in Embryogenesis Reveals a Mitochondrial Metabolic Stress-Induced Differentiation Checkpoint in Embryonic Stem Cells","volume":"31","author":"Shen","year":"2011","journal-title":"Mol. Cell. Biol."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.nmd.2003.11.004","article-title":"Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine","volume":"14","author":"Banwell","year":"2004","journal-title":"Neuromuscul. Disord."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1186\/s13046-021-01999-3","article-title":"Zinc transporter SLC39A13\/ZIP13 facilitates the metastasis of human ovarian cancer cells via activating Src\/FAK signaling pathway","volume":"40","author":"Cheng","year":"2021","journal-title":"J. Exp. Clin. Cancer Res."},{"key":"ref_71","doi-asserted-by":"crossref","unstructured":"Preman, P., Alfonso-Triguero, M., Alberdi, E., Verkhratsky, A., and Arranz, A. (2021). Astrocytes in Alzheimer\u2019s Disease: Pathological Significance and Molecular Pathways. Cells, 10.","DOI":"10.20944\/preprints202102.0230.v1"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"2278","DOI":"10.1038\/s41467-018-04555-4","article-title":"A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci","volume":"9","author":"Choquet","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.exer.2017.12.006","article-title":"GWAS links variants in neuronal development and actin remodeling related loci with pseudoexfoliation syndrome without glaucoma","volume":"168","author":"Zagajewska","year":"2017","journal-title":"Exp. Eye Res."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"5292","DOI":"10.1167\/iovs.18-24150","article-title":"Microtubule Imaging Reveals Cytoskeletal Deficit Predisposing the Retinal Ganglion Cell Axons to Atrophy in DBA\/2J","volume":"59","author":"Sharoukhov","year":"2018","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"srep44401","DOI":"10.1038\/srep44401","article-title":"Loss of forebrain MTCH2 decreases mitochondria motility and calcium handling and impairs hippocampal-dependent cognitive functions","volume":"7","author":"Ruggiero","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"30445","DOI":"10.1074\/jbc.M113.497917","article-title":"Cytosolic carboxypeptidase 5 removes \u03b1- and \u03b3-linked glutamates from tubulin","volume":"288","author":"Berezniuk","year":"2013","journal-title":"J. Biol. Chem."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1126\/science.1105681","article-title":"Axonopathy and Transport Deficits Early in the Pathogenesis of Alzheimer\u2019s Disease","volume":"307","author":"Stokin","year":"2005","journal-title":"Science"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"4299","DOI":"10.1016\/j.cell.2021.06.031","article-title":"Preservation of vision after CaMKII-mediated protection of retinal ganglion cells","volume":"184","author":"Guo","year":"2021","journal-title":"Cell"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.neurobiolaging.2018.10.017","article-title":"Translating Alzheimer\u2019s disease\u2013associated polymorphisms into functional candidates: A survey of IGAP genes and SNPs","volume":"74","author":"Katsumata","year":"2018","journal-title":"Neurobiol. Aging"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1016\/j.neuron.2018.05.008","article-title":"APOE4 Causes Widespread Molecular and Cellular Alterations Associated with Alzheimer\u2019s Disease Phenotypes in Human iPSC-Derived Brain Cell Types","volume":"98","author":"Lin","year":"2018","journal-title":"Neuron"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/s41591-018-0297-y","article-title":"Blood\u2013brain barrier breakdown is an early biomarker of human cognitive dysfunction","volume":"25","author":"Nation","year":"2019","journal-title":"Nat. Med."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/s41586-020-2247-3","article-title":"APOE4 leads to blood\u2013brain barrier dysfunction predicting cognitive decline","volume":"581","author":"Montagne","year":"2020","journal-title":"Nature"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"1627","DOI":"10.1016\/j.immuni.2022.07.014","article-title":"Apolipoprotein E4 impairs the response of neurodegenerative retinal microglia and prevents neuronal loss in glaucoma","volume":"55","author":"Margeta","year":"2022","journal-title":"Immunity"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1167\/iovs.61.8.3","article-title":"Association of APOE With Primary Open-Angle Glaucoma Suggests a Protective Effect for APOE \u03b54","volume":"61","author":"Margeta","year":"2020","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"18008","DOI":"10.1523\/JNEUROSCI.1402-13.2013","article-title":"Changes in Brain Function Occur Years before the Onset of Cognitive Impairment","volume":"33","author":"Goh","year":"2013","journal-title":"J. Neurosci."},{"key":"ref_86","first-page":"1025","article-title":"An updated meta-analysis: Apolipoprotein E genotypes and risk of primary open-angle glaucoma","volume":"20","author":"Liao","year":"2014","journal-title":"Mol. Vis."},{"key":"ref_87","unstructured":"Kumar, A., Sidhu, J., Goyal, A., and Tsao, J.W. (2022, November 26). Alzheimer Disease, StatPearls, Available online: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK499922\/."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1111\/j.1582-4934.2010.01038.x","article-title":"Gene therapy in Alzheimer\u2019s disease\u2014Potential for disease modification","volume":"14","author":"Nilsson","year":"2010","journal-title":"J. Cell. Mol. Med."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"R21","DOI":"10.1093\/hmg\/ddx184","article-title":"Genetics of glaucoma","volume":"26","author":"Wiggs","year":"2017","journal-title":"Hum. Mol. Genet."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/2\/338\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:18:20Z","timestamp":1760120300000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/2\/338"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,28]]},"references-count":89,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2023,2]]}},"alternative-id":["genes14020338"],"URL":"https:\/\/doi.org\/10.3390\/genes14020338","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,28]]}}}