{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T08:22:53Z","timestamp":1774945373309,"version":"3.50.1"},"reference-count":90,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T00:00:00Z","timestamp":1734912000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004440","name":"Sight Research UK","doi-asserted-by":"publisher","award":["205174\/Z\/16\/Z"],"award-info":[{"award-number":["205174\/Z\/16\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Antioxidants"],"abstract":"<jats:p>Reactive oxygen species (ROS) within the retina play a key role in maintaining function and cell survival. However, excessive ROS can lead to oxidative stress, inducing dysregulation of metabolic and inflammatory pathways. The chmru848 zebrafish models choroideremia (CHM), an X-linked chorioretinal dystrophy, which predominantly affects the photoreceptors, retinal pigment epithelium (RPE), and choroid. In this study, we examined the transcriptomic signature of the chmru848 zebrafish retina to reveal the upregulation of cytokine pathways and glia migration, upregulation of oxidative, ER stress and apoptosis markers, and the dysregulation of glucose metabolism with the downregulation of glycolysis and the upregulation of the oxidative phase of the pentose phosphate pathway. Glucose uptake was impaired in the chmru848 retina using the 2-NBDG glucose uptake assay. Following the overexpression of human PFKM, partial rescue was seen with the preservation of photoreceptors and RPE and increased glucose uptake, but without modifying glycolysis and oxidative stress markers. Therapies targeting glucose metabolism in CHM may represent a potential remedial approach.<\/jats:p>","DOI":"10.3390\/antiox13121587","type":"journal-article","created":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T08:16:07Z","timestamp":1734941767000},"page":"1587","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Oxidative Stress, Inflammation and Altered Glucose Metabolism Contribute to the Retinal Phenotype in the Choroideremia Zebrafish"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2532-4004","authenticated-orcid":false,"given":"C\u00e9cile","family":"M\u00e9j\u00e9case","sequence":"first","affiliation":[{"name":"Development, Ageing and Disease, UCL Institute of Ophthalmology, London EC1V 9EL, UK"},{"name":"Ocular Genomics and Therapeutics, The Francis Crick Institute, London NW1 1AT, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neelima","family":"Nair","sequence":"additional","affiliation":[{"name":"Development, Ageing and Disease, UCL Institute of Ophthalmology, London EC1V 9EL, UK"},{"name":"Ocular Genomics and Therapeutics, The Francis Crick Institute, London NW1 1AT, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hajrah","family":"Sarkar","sequence":"additional","affiliation":[{"name":"Development, Ageing and Disease, UCL Institute of Ophthalmology, London EC1V 9EL, UK"},{"name":"Ocular Genomics and Therapeutics, The Francis Crick Institute, London NW1 1AT, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4509-6109","authenticated-orcid":false,"given":"Pablo","family":"Soro-Barrio","sequence":"additional","affiliation":[{"name":"Bioinformatics and Biostatistics Science Technology Platform, The Francis Crick Institute, London NW1 1AT, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Toms","sequence":"additional","affiliation":[{"name":"Development, Ageing and Disease, UCL Institute of Ophthalmology, London EC1V 9EL, UK"},{"name":"Ocular Genomics and Therapeutics, The Francis Crick Institute, London NW1 1AT, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6537-5223","authenticated-orcid":false,"given":"Sophia","family":"Halliday","sequence":"additional","affiliation":[{"name":"Development, Ageing and Disease, UCL Institute of Ophthalmology, London EC1V 9EL, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katy","family":"Linkens","sequence":"additional","affiliation":[{"name":"Development, Ageing and Disease, UCL Institute of Ophthalmology, London EC1V 9EL, UK"},{"name":"Ocular Genomics and Therapeutics, The Francis Crick Institute, London NW1 1AT, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Jaroszynska","sequence":"additional","affiliation":[{"name":"Development, Ageing and Disease, UCL Institute of Ophthalmology, London EC1V 9EL, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Constance","family":"Maurer","sequence":"additional","affiliation":[{"name":"Development, Ageing and Disease, UCL Institute of Ophthalmology, London EC1V 9EL, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5598-6274","authenticated-orcid":false,"given":"Nicholas","family":"Owen","sequence":"additional","affiliation":[{"name":"Development, Ageing and Disease, UCL Institute of Ophthalmology, London EC1V 9EL, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1688-5360","authenticated-orcid":false,"given":"Mariya","family":"Moosajee","sequence":"additional","affiliation":[{"name":"Development, Ageing and Disease, UCL Institute of Ophthalmology, London EC1V 9EL, UK"},{"name":"Ocular Genomics and Therapeutics, The Francis Crick Institute, London NW1 1AT, UK"},{"name":"Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 9JH, UK"},{"name":"Department of Genetics, Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,12,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1917","DOI":"10.1016\/j.cub.2008.10.029","article-title":"ATP Consumption by Mammalian Rod Photoreceptors in Darkness and in Light","volume":"18","author":"Okawa","year":"2008","journal-title":"Curr. Biol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1111\/ceo.12952","article-title":"Glucose Metabolism in Mammalian Photoreceptor Inner and Outer Segments","volume":"45","author":"Narayan","year":"2017","journal-title":"Clin. Exp. Ophthalmol."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Jaroszynska, N., Harding, P., and Moosajee, M. (2021). Metabolism in the Zebrafish Retina. J. Dev. Biol., 9.","DOI":"10.3390\/jdb9010010"},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Pan, W.W., Wubben, T.J., and Besirli, C.G. (2021). Photoreceptor Metabolic Reprogramming: Current Understanding and Therapeutic Implications. Commun. Biol., 4.","DOI":"10.1038\/s42003-021-01765-3"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1002\/jnr.23583","article-title":"Glucose, Lactate, and Shuttling of Metabolites in Vertebrate Retinas","volume":"93","author":"Hurley","year":"2015","journal-title":"J. Neurosci. Res."},{"key":"ref_6","first-page":"2798","article-title":"Changes in Glucose Level Affect Rod Function More than Cone Function in the Isolated, Perfused Cat Eye","volume":"33","author":"Macaluso","year":"1992","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"C121","DOI":"10.1152\/ajpcell.00410.2018","article-title":"Modulating GLUT1 Expression in Retinal Pigment Epithelium Decreases Glucose Levels in the Retina: Impact on Photoreceptors and M\u00fcller Glial Cells","volume":"316","author":"Swarup","year":"2019","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Weh, E., Goswami, M., Chaudhury, S., Fernando, R., Miller, N., Hager, H., Sheskey, S., Sharma, V., Wubben, T.J., and Besirli, C.G. (2023). Metabolic Alterations Caused by Simultaneous Loss of HK2 and PKM2 Leads to Photoreceptor Dysfunction and Degeneration. Cells, 12.","DOI":"10.3390\/cells12162043"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1642","DOI":"10.1074\/jbc.R111.304428","article-title":"Loss of Daylight Vision in Retinal Degeneration: Are Oxidative Stress and Metabolic Dysregulation to Blame?","volume":"287","author":"Punzo","year":"2012","journal-title":"J. Biol. Chem."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Rajala, R.V.S. (2020). Aerobic Glycolysis in the Retina: Functional Roles of Pyruvate Kinase Isoforms. Front. Cell Dev. Biol., 8.","DOI":"10.3389\/fcell.2020.00266"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1161\/CIRCRESAHA.117.311401","article-title":"Reactive Oxygen Species in Metabolic and Inflammatory Signaling","volume":"122","author":"Forrester","year":"2018","journal-title":"Circ. Res."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2515841418817490","DOI":"10.1177\/2515841418817490","article-title":"Choroideremia: From Genetic and Clinical Phenotyping to Gene Therapy and Future Treatments","volume":"10","author":"Mitsios","year":"2018","journal-title":"Ther. Adv. Ophthalmol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"3009","DOI":"10.1167\/iovs.08-2755","article-title":"Single Choroideremia Gene in Nonmammalian Vertebrates Explains Early Embryonic Lethality of the Zebrafish Model of Choroideremia","volume":"50","author":"Moosajee","year":"2009","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Sarkar, H., Lahne, M., Nair, N., and Moosajee, M. (2023). Oxidative and Endoplasmic Reticulum Stress Represent Novel Therapeutic Targets for Choroideremia. Antioxidants, 12.","DOI":"10.3390\/antiox12091694"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1002\/path.6056","article-title":"Loss of the Crumbs Cell Polarity Complex Disrupts Epigenetic Transcriptional Control and Cell Cycle Progression in the Developing Retina","volume":"259","author":"Owen","year":"2023","journal-title":"J. Pathol."},{"key":"ref_16","unstructured":"Krueger, F., James, F., Ewels, P., Afyounian, E., Weinstein, M., Schuster-Boeckler, B., and Hulselmans, G. Sclamons FelixKrueger\/TrimGalore: V0.6.10\u2014Add Default Decompression Path 2023."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Li, B., and Dewey, C.N. (2011). RSEM: Accurate Transcript Quantification from RNA-Seq Data with or without a Reference Genome. BMC Bioinform., 12.","DOI":"10.1186\/1471-2105-12-323"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","article-title":"STAR: Ultrafast Universal RNA-Seq Aligner","volume":"29","author":"Dobin","year":"2013","journal-title":"Bioinformatics"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1038\/s41587-020-0439-x","article-title":"The Nf-Core Framework for Community-Curated Bioinformatics Pipelines","volume":"38","author":"Ewels","year":"2020","journal-title":"Nat. Biotechnol."},{"key":"ref_20","unstructured":"Harshil, P., Phil, E., Alexander, P., Olga, B., Jonathan, M., Gregor, S., Maxime, U.G., Denis, M., Pranathi, V., and Nf-Core Bot (2024, December 18). Nf-Core\/Rnaseq: Nf-Core\/Rnaseq v3.13.2\u2014Cobalt Colt 2023. Available online: https:\/\/zenodo.org\/doi\/10.5281\/zenodo.1400710."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Love, M.I., Huber, W., and Anders, S. (2014). Moderated Estimation of Fold Change and Dispersion for RNA-Seq Data with DESeq2. Genome Biol., 15.","DOI":"10.1186\/s13059-014-0550-8"},{"key":"ref_22","unstructured":"R Development Core Team (2008). R a Language and Environment for Statistical Computing: Reference Index, R Foundation for Statistical Computing."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"D419","DOI":"10.1093\/nar\/gky1038","article-title":"PANTHER Version 14: More Genomes, a New PANTHER GO-Slim and Improvements in Enrichment Analysis Tools","volume":"47","author":"Mi","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"e43","DOI":"10.1002\/imt2.43","article-title":"Complex Heatmap Visualization","volume":"1","author":"Gu","year":"2022","journal-title":"iMeta"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1038\/nmeth.2089","article-title":"NIH Image to ImageJ: 25 Years of Image Analysis","volume":"9","author":"Schneider","year":"2012","journal-title":"Nat. Methods"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"3987","DOI":"10.1093\/hmg\/ddn302","article-title":"Translational Bypass of Nonsense Mutations in Zebrafish Rep1, Pax2.1 and Lamb1 Highlights a Viable Therapeutic Option for Untreatable Genetic Eye Disease","volume":"17","author":"Moosajee","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"D679","DOI":"10.1093\/nar\/gkad960","article-title":"WikiPathways 2024: Next Generation Pathway Database","volume":"52","author":"Agrawal","year":"2023","journal-title":"Nucleic Acids Res."},{"key":"ref_28","unstructured":"Pico, A., Wackers, L., Willighagen, E., and Weitz, E. (2024, December 18). Glycolysis and Gluconeogenesis (WP1356). Available online: https:\/\/www.wikipathways.org\/instance\/WP1356."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.jbbm.2005.08.001","article-title":"2-NBDG as a Fluorescent Indicator for Direct Glucose Uptake Measurement","volume":"64","author":"Zou","year":"2005","journal-title":"J. Biochem. Biophys. Methods"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"e22428","DOI":"10.1096\/fj.202200369R","article-title":"Glucose Uptake by GLUT1 in Photoreceptors Is Essential for Outer Segment Renewal and Rod Photoreceptor Survival","volume":"36","author":"Daniele","year":"2022","journal-title":"FASEB J."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"E974","DOI":"10.1152\/ajpendo.00407.2001","article-title":"Nomenclature of the GLUT\/SLC2A Family of Sugar\/Polyol Transport Facilitators","volume":"282","author":"Joost","year":"2002","journal-title":"Am. J. Physiol.-Endocrinol. Metab."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1007\/s12551-015-0186-2","article-title":"Glucose Transporters: Physiological and Pathological Roles","volume":"8","author":"Navale","year":"2016","journal-title":"Biophys. Rev."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1038\/nature12111","article-title":"The Zebrafish Reference Genome Sequence and Its Relationship to the Human Genome","volume":"496","author":"Howe","year":"2013","journal-title":"Nature"},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"Lechermeier, C.G., Zimmer, F., L\u00fcffe, T.M., Lesch, K.-P., Romanos, M., Lillesaar, C., and Drepper, C. (2019). Transcript Analysis of Zebrafish GLUT3 Genes, Slc2a3a and Slc2a3b, Define Overlapping as Well as Distinct Expression Domains in the Zebrafish (Danio rerio) Central Nervous System. Front. Mol. Neurosci., 12.","DOI":"10.3389\/fnmol.2019.00199"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"3405","DOI":"10.1074\/jbc.M114.618611","article-title":"Targeted Identification of Sialoglycoproteins in Hypoxic Endothelial Cells and Validation in Zebrafish Reveal Roles for Proteins in Angiogenesis","volume":"290","author":"Delcourt","year":"2015","journal-title":"J. Biol. Chem."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1038\/s42255-021-00514-4","article-title":"Oxidative Pentose Phosphate Pathway Controls Vascular Mural Cell Coverage by Regulating Extracellular Matrix Composition","volume":"4","author":"Facchinello","year":"2022","journal-title":"Nat. Metab."},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Sarkar, H., Tracey-White, D., Hagag, A.M., Burgoyne, T., Nair, N., Jensen, L.D., Edwards, M.M., and Moosajee, M. (2024). Loss of REP1 Impacts Choroidal Melanogenesis and Vasculogenesis in Choroideremia. Biochim. Biophys. Acta (BBA)\u2014Mol. Basis Dis., 1870.","DOI":"10.1016\/j.bbadis.2023.166963"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1002\/ajh.21745","article-title":"Pericytes and Vessel Maturation during Tumor Angiogenesis and Metastasis","volume":"85","author":"Raza","year":"2010","journal-title":"Am. J. Hematol."},{"key":"ref_39","first-page":"401","article-title":"Examining Glucose Transport in Single Vascular Smooth Muscle Cells with a Fluorescent Glucose Analog","volume":"48","author":"Lloyd","year":"1999","journal-title":"Physiol. Res."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1899","DOI":"10.1271\/bbb.60.1899","article-title":"Intracellular Fate of 2-NBDG, a Fluorescent Probe for Glucose Uptake Activity, in Escherichia Coli Cells","volume":"60","author":"Yoshioka","year":"1996","journal-title":"Biosci. Biotechnol. Biochem."},{"key":"ref_41","first-page":"400","article-title":"Evaluation of 2-[N-(7-Nitrobenz-2-Oxa-1,3-Diazol-4-Yl)Amino]-2-Deoxy-D-Glucose, a New Fluorescent Derivative of Glucose, for Viability Assessment of Yeast Candida Albicans","volume":"46","author":"Yoshioka","year":"1996","journal-title":"Appl. Microbiol. Biotechnol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"107063","DOI":"10.1016\/j.isci.2023.107063","article-title":"Excess Glucose or Fat Differentially Affects Metabolism and Appetite-Related Gene Expression during Zebrafish Embryogenesis","volume":"26","author":"Konadu","year":"2023","journal-title":"iScience"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"363","DOI":"10.3892\/mmr.2022.12880","article-title":"Role of Glucose Metabolism in Ocular Angiogenesis (Review)","volume":"26","author":"Li","year":"2022","journal-title":"Mol. Med. Rep."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1136\/jmedgenet-2013-102138","article-title":"Prenylation Defects in Inherited Retinal Diseases","volume":"51","author":"Roosing","year":"2014","journal-title":"J. Med. Genet."},{"key":"ref_45","doi-asserted-by":"crossref","unstructured":"K\u00f6hnke, M., Delon, C., Hastie, M.L., Nguyen, U.T.T., Wu, Y.-W., Waldmann, H., Goody, R.S., Gorman, J.J., and Alexandrov, K. (2013). Rab GTPase Prenylation Hierarchy and Its Potential Role in Choroideremia Disease. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0081758"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1007\/s11010-023-04727-x","article-title":"The Role of Rab GTPases in the Development of Genetic and Malignant Diseases","volume":"479","author":"Erol","year":"2023","journal-title":"Mol. Cell Biochem."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1074\/mcp.M700571-MCP200","article-title":"Proteomics of Photoreceptor Outer Segments Identifies a Subset of SNARE and Rab Proteins Implicated in Membrane Vesicle Trafficking and Fusion","volume":"7","author":"Kwok","year":"2008","journal-title":"Mol. Cell Proteom."},{"key":"ref_48","doi-asserted-by":"crossref","unstructured":"Keeling, E., Lotery, A., Tumbarello, D., and Ratnayaka, J. (2018). Impaired Cargo Clearance in the Retinal Pigment Epithelium (RPE) Underlies Irreversible Blinding Diseases. Cells, 7.","DOI":"10.20944\/preprints201801.0269.v1"},{"key":"ref_49","doi-asserted-by":"crossref","unstructured":"Prashar, A., Schnettger, L., Bernard, E.M., and Gutierrez, M.G. (2017). Rab GTPases in Immunity and Inflammation. Front. Cell. Infect. Microbiol., 7.","DOI":"10.3389\/fcimb.2017.00435"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1167\/iovs.09-4117","article-title":"Silencing of the CHM Gene Alters Phagocytic and Secretory Pathways in the Retinal Pigment Epithelium","volume":"51","author":"Gordiyenko","year":"2010","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_51","doi-asserted-by":"crossref","unstructured":"Strunnikova, N.V., Barb, J., Sergeev, Y.V., Thiagarajasubramanian, A., Silvin, C., Munson, P.J., and Macdonald, I.M. (2009). Loss-of-Function Mutations in Rab Escort Protein 1 (REP-1) Affect Intracellular Transport in Fibroblasts and Monocytes of Choroideremia Patients. PLoS ONE, 4.","DOI":"10.1371\/journal.pone.0008402"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"2264","DOI":"10.1091\/mbc.e03-10-0772","article-title":"The Role of Rab27a in the Regulation of Melanosome Distribution within Retinal Pigment Epithelial Cells","volume":"15","author":"Futter","year":"2004","journal-title":"MBoC"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1089\/ars.2014.5851","article-title":"Endoplasmic Reticulum Stress and Oxidative Stress in Cell Fate Decision and Human Disease","volume":"21","author":"Cao","year":"2014","journal-title":"Antioxid. Redox Signal"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"e146934","DOI":"10.1172\/jci.insight.146934","article-title":"REP1 Deficiency Causes Systemic Dysfunction of Lipid Metabolism and Oxidative Stress in Choroideremia","volume":"6","author":"Cunha","year":"2021","journal-title":"JCI Insight"},{"key":"ref_55","doi-asserted-by":"crossref","unstructured":"Bukke, V.N., Villani, R., Archana, M., Wawrzyniak, A., Balawender, K., Orkisz, S., Ferraro, L., Serviddio, G., and Cassano, T. (2020). The Glucose Metabolic Pathway as A Potential Target for Therapeutics: Crucial Role of Glycosylation in Alzheimer\u2019s Disease. IJMS, 21.","DOI":"10.3390\/ijms21207739"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"100860","DOI":"10.1016\/j.preteyeres.2020.100860","article-title":"Endoplasmic Reticulum Stress: New Insights into the Pathogenesis and Treatment of Retinal Degenerative Diseases","volume":"79","author":"Gorbatyuk","year":"2020","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1016\/j.celrep.2015.12.069","article-title":"The 11S Proteasome Subunit PSME3 Is a Positive Feedforward Regulator of NF-\u03baB and Important for Host Defense against Bacterial Pathogens","volume":"14","author":"Sun","year":"2016","journal-title":"Cell Rep."},{"key":"ref_58","doi-asserted-by":"crossref","unstructured":"B Dom\u00e8nech, E., and Marfany, G. (2020). The Relevance of Oxidative Stress in the Pathogenesis and Therapy of Retinal Dystrophies. Antioxidants, 9.","DOI":"10.3390\/antiox9040347"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/j.survophthal.2009.02.008","article-title":"Choroideremia: New Findings from Ocular Pathology and Review of Recent Literature","volume":"54","author":"MacDonald","year":"2009","journal-title":"Surv. Ophthalmol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/j.tins.2020.03.012","article-title":"Microglia versus Monocytes: Distinct Roles in Degenerative Diseases of the Retina","volume":"43","author":"Yu","year":"2020","journal-title":"Trends Neurosci."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"7159","DOI":"10.1167\/iovs.14-15520","article-title":"A Missense Mutation in HK1 Leads to Autosomal Dominant Retinitis Pigmentosa","volume":"55","author":"Wang","year":"2014","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"7147","DOI":"10.1167\/iovs.14-15419","article-title":"A Dominant Mutation in Hexokinase 1 (HK1) Causes Retinitis Pigmentosa","volume":"55","author":"Sullivan","year":"2014","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_63","first-page":"4157","article-title":"Whole-Exome Sequencing Revealed HKDC1 as a Candidate Gene Associated with Autosomal-Recessive Retinitis Pigmentosa","volume":"27","author":"Zhang","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"17590914231151534","DOI":"10.1177\/17590914231151534","article-title":"Pyruvate Kinase 2, an Energy Metabolism Related Enzyme, May Have a Neuroprotective Function in Retinal Degeneration","volume":"15","author":"Zhou","year":"2023","journal-title":"ASN Neuro"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/j.cell.2015.03.023","article-title":"Rod-Derived Cone Viability Factor Promotes Cone Survival by Stimulating Aerobic Glycolysis","volume":"161","author":"Fridlich","year":"2015","journal-title":"Cell"},{"key":"ref_66","doi-asserted-by":"crossref","unstructured":"Sarkar, H., Toms, M., and Moosajee, M. (2021). Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22168863"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1007\/s00018-023-05021-1","article-title":"Molecular Basis of Retinal Remodeling in a Zebrafish Model of Retinitis Pigmentosa","volume":"80","author":"Santhanam","year":"2023","journal-title":"Cell Mol. Life Sci."},{"key":"ref_68","doi-asserted-by":"crossref","unstructured":"Zhou, Y., Sheng, Y., Pan, M., Tu, J., Zhao, X., Ge, Q., and Lu, Z. (2023). Spatial Transcriptomic Analysis Reveals Regional Transcript Changes in Early and Late Stages of Rd1 Model Mice with Retinitis Pigmentosa. IJMS, 24.","DOI":"10.3390\/ijms241914869"},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Olivares-Gonz\u00e1lez, L., Velasco, S., Campillo, I., Salom, D., Gonz\u00e1lez-Garc\u00eda, E., Soriano Del Castillo, J.M., and Rodrigo, R. (2021). Nutraceutical Supplementation Ameliorates Visual Function, Retinal Degeneration, and Redox Status in Rd10 Mice. Antioxidants, 10.","DOI":"10.3390\/antiox10071033"},{"key":"ref_70","doi-asserted-by":"crossref","unstructured":"Appelbaum, T., Santana, E., and Aguirre, G.D. (2017). Strong Upregulation of Inflammatory Genes Accompanies Photoreceptor Demise in Canine Models of Retinal Degeneration. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0177224"},{"key":"ref_71","doi-asserted-by":"crossref","unstructured":"Xu, H., and Chen, M. (2022). Immune Response in Retinal Degenerative Diseases\u2014Time to Rethink?. Prog. Neurobiol., 219.","DOI":"10.1016\/j.pneurobio.2022.102350"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1007\/s00018-019-03420-x","article-title":"Senescence in the Pathogenesis of Age-Related Macular Degeneration","volume":"77","author":"Blasiak","year":"2020","journal-title":"Cell Mol. Life Sci."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1016\/j.cell.2019.10.005","article-title":"Cellular Senescence: Defining a Path Forward","volume":"179","author":"Gorgoulis","year":"2019","journal-title":"Cell"},{"key":"ref_74","doi-asserted-by":"crossref","unstructured":"Toualbi, L., Toms, M., Almeida, P.V., Harbottle, R., and Moosajee, M. (2023). Gene Augmentation of CHM Using Non-Viral Episomal Vectors in Models of Choroideremia. IJMS, 24.","DOI":"10.3390\/ijms242015225"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"3416","DOI":"10.1093\/hmg\/ddw184","article-title":"Functional Rescue of REP1 Following Treatment with PTC124 and Novel Derivative PTC-414 in Human Choroideremia Fibroblasts and the Nonsense-Mediated Zebrafish Model","volume":"25","author":"Moosajee","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref_76","doi-asserted-by":"crossref","unstructured":"Zhao, L., Hou, C., and Yan, N. (2022). Neuroinflammation in Retinitis Pigmentosa: Therapies Targeting the Innate Immune System. Front. Immunol., 13.","DOI":"10.3389\/fimmu.2022.1059947"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"1843","DOI":"10.1002\/jcp.22508","article-title":"N-Acetylcysteine Promotes Long-Term Survival of Cones in a Model of Retinitis Pigmentosa","volume":"226","author":"Lee","year":"2011","journal-title":"J. Cell. Physiol."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.1172\/JCI132990","article-title":"Oral N-Acetylcysteine Improves Cone Function in Retinitis Pigmentosa Patients in Phase I Trial","volume":"130","author":"Campochiaro","year":"2020","journal-title":"J. Clin. Investig."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"e66240","DOI":"10.7554\/eLife.66240","article-title":"AAV-Txnip Prolongs Cone Survival and Vision in Mouse Models of Retinitis Pigmentosa","volume":"10","author":"Xue","year":"2021","journal-title":"Elife"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1038\/nn.2234","article-title":"Stimulation of the Insulin\/mTOR Pathway Delays Cone Death in a Mouse Model of Retinitis Pigmentosa","volume":"12","author":"Punzo","year":"2009","journal-title":"Nat. Neurosci."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"1446","DOI":"10.1172\/JCI79766","article-title":"Activated mTORC1 Promotes Long-Term Cone Survival in Retinitis Pigmentosa Mice","volume":"125","author":"Venkatesh","year":"2015","journal-title":"J. Clin. Investig."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"a041289","DOI":"10.1101\/cshperspect.a041289","article-title":"Gene Therapies for Retinitis Pigmentosa That Target Glucose Metabolism","volume":"14","author":"Xue","year":"2023","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1172\/JCI65654","article-title":"Viral-Mediated RdCVF and RdCVFL Expression Protects Cone and Rod Photoreceptors in Retinal Degeneration","volume":"125","author":"Byrne","year":"2015","journal-title":"J. Clin. Investig."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"29","DOI":"10.4062\/biomolther.2017.179","article-title":"The Pentose Phosphate Pathway as a Potential Target for Cancer Therapy","volume":"26","author":"Cho","year":"2018","journal-title":"Biomol. Ther."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"110595","DOI":"10.1016\/j.mce.2019.110595","article-title":"Targeting the Pentose Phosphate Pathway Increases Reactive Oxygen Species and Induces Apoptosis in Thyroid Cancer Cells","volume":"499","author":"Liu","year":"2020","journal-title":"Mol. Cell. Endocrinol."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"5171","DOI":"10.1073\/pnas.85.14.5171","article-title":"Diverse Point Mutations in the Human Glucose-6-Phosphate Dehydrogenase Gene Cause Enzyme Deficiency and Mild or Severe Hemolytic Anemia","volume":"85","author":"Vulliamy","year":"1988","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"1546","DOI":"10.1172\/JCI35722","article-title":"Prevention of Hepatocarcinogenesis and Increased Susceptibility to Acetaminophen-Induced Liver Failure in Transaldolase-Deficient Mice by N-Acetylcysteine","volume":"119","author":"Hanczko","year":"2009","journal-title":"J. Clin. Investig."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.ymgme.2009.01.016","article-title":"Transaldolase Deficiency in Two New Patients with a Relative Mild Phenotype","volume":"97","author":"Stradomska","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/BF01991782","article-title":"Molecular Genetics of Transketolase in the Pathogenesis of the Wernicke-Korsakoff Syndrome","volume":"10","author":"Martin","year":"1995","journal-title":"Metab. Brain Dis."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1016\/j.molmed.2011.01.014","article-title":"Oxidative Stress, Inflammation and Carcinogenesis Are Controlled through the Pentose Phosphate Pathway by Transaldolase","volume":"17","author":"Perl","year":"2011","journal-title":"Trends Mol. Med."}],"container-title":["Antioxidants"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2076-3921\/13\/12\/1587\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T16:58:35Z","timestamp":1760115515000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2076-3921\/13\/12\/1587"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,23]]},"references-count":90,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["antiox13121587"],"URL":"https:\/\/doi.org\/10.3390\/antiox13121587","relation":{},"ISSN":["2076-3921"],"issn-type":[{"value":"2076-3921","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,23]]}}}