{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T23:42:17Z","timestamp":1780616537327,"version":"3.54.1"},"reference-count":132,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,4,8]],"date-time":"2021-04-08T00:00:00Z","timestamp":1617840000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI17\/01582"],"award-info":[{"award-number":["PI17\/01582"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Autosomal recessive ataxias are much less well studied than autosomal dominant ataxias and there are no clearly defined systems to classify them. Autosomal recessive ataxias, which are characterized by neuronal and multisystemic features, have significant overlapping symptoms with other complex multisystemic recessive disorders. The generation of animal models of neurodegenerative disorders increases our knowledge of their cellular and molecular mechanisms and helps in the search for new therapies. Among animal models, the zebrafish, which shares 70% of its genome with humans, offer the advantages of being small in size and demonstrating rapid development, making them optimal for high throughput drug and genetic screening. Furthermore, embryo and larval transparency allows to visualize cellular processes and central nervous system development in vivo. In this review, we discuss the contributions of zebrafish models to the study of autosomal recessive ataxias characteristic phenotypes, behavior, and gene function, in addition to commenting on possible treatments found in these models. Most of the zebrafish models generated to date recapitulate the main features of recessive ataxias.<\/jats:p>","DOI":"10.3390\/cells10040836","type":"journal-article","created":{"date-parts":[[2021,4,8]],"date-time":"2021-04-08T10:34:39Z","timestamp":1617878079000},"page":"836","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Zebrafish Models of Autosomal Recessive Ataxias"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0498-8741","authenticated-orcid":false,"given":"Ana","family":"Quelle-Regaldie","sequence":"first","affiliation":[{"name":"Department of Zoology, Genetics and Physical Anthropology, Faculty of Veterinary Science, Universidade de Santiago de Compostela, 27002 Lugo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8239-2965","authenticated-orcid":false,"given":"Daniel","family":"Sobrido-Came\u00e1n","sequence":"additional","affiliation":[{"name":"Department of Functional Biology, CIBUS, Faculty of Biology, Universidade de Santiago de Compostela, 15782 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7507-080X","authenticated-orcid":false,"given":"Ant\u00f3n","family":"Barreiro-Iglesias","sequence":"additional","affiliation":[{"name":"Department of Functional Biology, CIBUS, Faculty of Biology, Universidade de Santiago de Compostela, 15782 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Jes\u00fas","family":"Sobrido","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de A Coru\u00f1a (INIBIC), Servicio Galego de Sa\u00fade, 15006 A Coru\u00f1a, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7927-5303","authenticated-orcid":false,"given":"Laura","family":"S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Department of Zoology, Genetics and Physical Anthropology, Faculty of Veterinary Science, Universidade de Santiago de Compostela, 27002 Lugo, Spain"},{"name":"Preclinical Animal Models Group, Health Research Institute of Santiago de Compostela (IDIS), 15706 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,4,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1016\/S0025-6196(11)64217-1","article-title":"Hereditary Ataxias","volume":"75","author":"Evidente","year":"2000","journal-title":"Mayo Clin. Proc."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/s40673-017-0061-y","article-title":"Systematic Review of Autosomal Recessive Ataxias and Proposal for a Classification","volume":"4","author":"Beaudin","year":"2017","journal-title":"Cerebellum Ataxias"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1007\/s12311-019-01052-2","article-title":"The Classification of Autosomal Recessive Cerebellar Ataxias: A Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force","volume":"18","author":"Beaudin","year":"2019","journal-title":"Cerebellum"},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Quelle-Regaldie, A., Sobrido-Came\u00e1n, D., Barreiro-Iglesias, A., Sobrido, M.J., and S\u00e1nchez, L. (2021). Zebrafish Models of Autosomal Dominant Ataxias. Cells, 10.","DOI":"10.3390\/cells10020421"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/B978-0-444-64189-2.00005-6","article-title":"Recessive Ataxias","volume":"155","author":"Synofzik","year":"2018","journal-title":"Handb. Clin. Neurol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1097\/WCO.0b013e32832b9897","article-title":"Cerebellar Ataxias","volume":"22","author":"Manto","year":"2009","journal-title":"Curr. Opin. Neurol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1007\/s100720100017","article-title":"The Complex Clinical and Genetic Classification of Inherited Ataxias. II. Autosomal Recessive Ataxias","volume":"22","author":"Gellera","year":"2001","journal-title":"Neurol. Sci."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/S1474-4422(07)70054-6","article-title":"Clinical Features and Molecular Genetics of Autosomal Recessive Cerebellar Ataxias","volume":"6","author":"Fogel","year":"2007","journal-title":"Lancet Neurol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1038\/s41593-018-0236-8","article-title":"Animal Models of Neurodegenerative Diseases","volume":"21","author":"Dawson","year":"2018","journal-title":"Nat. Neurosci."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"6","DOI":"10.3389\/fnsyn.2018.00006","article-title":"Purkinje Cell Signaling Deficits in Animal Models of Ataxia","volume":"10","author":"Hoxha","year":"2018","journal-title":"Front. Synaptic Neurosci."},{"key":"ref_11","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_12","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1038\/nrc3589","article-title":"Zebrafish Cancer: The State of the Art and the Path Forward","volume":"13","author":"White","year":"2013","journal-title":"Nat. Rev. Cancer"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/j.bbadis.2010.09.011","article-title":"Zebrafish Models for the Functional Genomics of Neurogenetic Disorders","volume":"1812","author":"Kabashi","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1002\/jnr.24337","article-title":"Zebrafish Models for Personalized Psychiatry: Insights from Individual, Strain and Sex Differences, and Modeling Gene x Environment Interactions","volume":"97","author":"Volgin","year":"2019","journal-title":"J. Neurosci. Res."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1093\/cvr\/cvr098","article-title":"Zebrafish as a Model to Study Cardiac Development and Human Cardiac Disease","volume":"91","author":"Bakkers","year":"2011","journal-title":"Cardiovasc. Res."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1016\/j.celrep.2015.09.050","article-title":"Serotonin Promotes Development and Regeneration of Spinal Motor Neurons in Zebrafish","volume":"13","author":"Mysiak","year":"2015","journal-title":"Cell Rep."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"e13052","DOI":"10.1111\/acel.13052","article-title":"Cell Senescence Contributes to Tissue Regeneration in Zebrafish","volume":"19","author":"Quelle","year":"2020","journal-title":"Aging Cell"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1038\/nrg2091","article-title":"Animal Models of Human Disease: Zebrafish Swim into View","volume":"8","author":"Lieschke","year":"2007","journal-title":"Nat. Rev. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"55","DOI":"10.3389\/fnmol.2016.00055","article-title":"Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish","volume":"9","author":"Kozol","year":"2016","journal-title":"Front. Mol. Neurosci."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/79951","article-title":"Effective Targeted Gene \u201cknockdown\u201d in Zebrafish","volume":"26","author":"Nasevicius","year":"2000","journal-title":"Nat. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/978-1-60327-977-2_1","article-title":"Highly Efficient ENU Mutagenesis in Zebrafish","volume":"546","author":"Cuppen","year":"2009","journal-title":"Methods Mol. Biol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"4982","DOI":"10.1242\/dev.099085","article-title":"Efficient CRISPR\/Cas9 Genome Editing with Low off-Target Effects in Zebrafish","volume":"140","author":"Hruscha","year":"2013","journal-title":"Development"},{"key":"ref_23","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J., Mirzaa, G., and Amemiya, A. (1993). Hereditary Ataxia Overview. GeneReviews\u00ae, University of Washington."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1146\/annurev.immunol.15.1.177","article-title":"The Genetic Defect in Ataxia-Telangiectasia","volume":"15","author":"Lavin","year":"1997","journal-title":"Annu. Rev. Immunol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1093\/brain\/awt326","article-title":"PNPLA6 Mutations Cause Boucher-Neuhauser and Gordon Holmes Syndromes as Part of a Broad Neurodegenerative Spectrum","volume":"137","author":"Synofzik","year":"2014","journal-title":"Brain"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/j.nmd.2015.04.003","article-title":"SIL1-Related Marinesco-Sjoegren Syndrome (MSS) with Associated Motor Neuronopathy and Bradykinetic Movement Disorder","volume":"25","author":"Byrne","year":"2015","journal-title":"Neuromuscul. Disord."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1038\/ng.3256","article-title":"Biallelic Mutations in SNX14 Cause a Syndromic Form of Cerebellar Atrophy and Lysosome-Autophagosome Dysfunction","volume":"47","author":"Akizu","year":"2015","journal-title":"Nat. Genet."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1007\/s10072-004-0246-z","article-title":"Ataxia with Isolated Vitamin E Deficiency: Neurological Phenotype, Clinical Follow-up and Novel Mutations in TTPA Gene in Italian Families","volume":"25","author":"Mariotti","year":"2004","journal-title":"Neurol. Sci."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1007\/s004010051084","article-title":"Evidence of Widespread Axonal Pathology in Wolfram Syndrome","volume":"98","author":"Shannon","year":"1999","journal-title":"Acta Neuropathol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1111\/j.1399-0004.2010.01522.x","article-title":"Wolfram Syndrome and WFS1 Gene","volume":"79","author":"Rigoli","year":"2011","journal-title":"Clin. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1016\/j.ajhg.2010.08.002","article-title":"Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism","volume":"87","author":"Fiskerstrand","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1038\/ng1255","article-title":"Mutations in a Novel Gene Encoding a CRAL-TRIO Domain Cause Human Cayman Ataxia and Ataxia\/Dystonia in the Jittery Mouse","volume":"35","author":"Bomar","year":"2003","journal-title":"Nat. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Kim, M., Sandford, E., Gatica, D., Qiu, Y., Liu, X., Zheng, Y., Schulman, B.A., Xu, J., Semple, I., and Ro, S.-H. (2016). Mutation in ATG5 Reduces Autophagy and Leads to Ataxia with Developmental Delay. Elife, 5.","DOI":"10.7554\/eLife.12245"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"103605","DOI":"10.1016\/j.ejmg.2018.12.010","article-title":"CAPN1 Mutations: Expanding the CAPN1-Related Phenotype: From Hereditary Spastic Paraparesis to Spastic Ataxia","volume":"62","author":"Shetty","year":"2019","journal-title":"Eur. J. Med. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1212\/WNL.0000000000001053","article-title":"Homozygous Splice Mutation in CWF19L1 in a Turkish Family with Recessive Ataxia Syndrome","volume":"83","author":"Burns","year":"2014","journal-title":"Neurology"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"5842","DOI":"10.1073\/pnas.0901749106","article-title":"Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance (SeSAME Syndrome) Caused by Mutations in KCNJ10","volume":"106","author":"Scholl","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_37","first-page":"652","article-title":"Generation and Validation of a Zebrafish Model of EAST (Epilepsy, Ataxia, Sensorineural Deafness and Tubulopathy) Syndrome","volume":"6","author":"Mahmood","year":"2013","journal-title":"Dis. Model. Mech."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.ajhg.2014.07.007","article-title":"Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy","volume":"95","author":"Aldinger","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1212\/WNL.62.2.316","article-title":"POLG Mutations Causing Ophthalmoplegia, Sensorimotor Polyneuropathy, Ataxia, and Deafness","volume":"62","author":"Mancuso","year":"2004","journal-title":"Neurology"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1093\/brain\/awl088","article-title":"Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase Gamma Gene","volume":"129","author":"Horvath","year":"2006","journal-title":"Brain"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1038\/ng1475","article-title":"Mutations in PTF1A Cause Pancreatic and Cerebellar Agenesis","volume":"36","author":"Sellick","year":"2004","journal-title":"Nat. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1992","DOI":"10.1056\/NEJMoa1215993","article-title":"Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination","volume":"368","author":"Margolin","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"e319","DOI":"10.1212\/WNL.0000000000005869","article-title":"Biallelic SQSTM1 Mutations in Early-Onset, Variably Progressive Neurodegeneration","volume":"91","author":"Muto","year":"2018","journal-title":"Neurology"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1002\/humu.22292","article-title":"Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) Is Caused by Variants in TPP1, the Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)","volume":"34","author":"Sun","year":"2013","journal-title":"Hum. Mutat."},{"key":"ref_45","doi-asserted-by":"crossref","unstructured":"Duan, R., Shi, Y., Yu, L., Zhang, G., Li, J., Lin, Y., Guo, J., Wang, J., Shen, L., and Jiang, H. (2016). UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0149039"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1136\/jmedgenet-2014-102707","article-title":"Nonsense Mutation in the WDR73 Gene Is Associated with Galloway-Mowat Syndrome","volume":"52","author":"Fahiminiya","year":"2015","journal-title":"J. Med. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1093\/brain\/awt338","article-title":"The Tumour Suppressor Gene WWOX Is Mutated in Autosomal Recessive Cerebellar Ataxia with Epilepsy and Mental Retardation","volume":"137","author":"Mallaret","year":"2014","journal-title":"Brain"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"2215","DOI":"10.1038\/onc.2016.389","article-title":"Wwox-Brca1 Interaction: Role in DNA Repair Pathway Choice","volume":"36","author":"Schrock","year":"2017","journal-title":"Oncogene"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s10048-018-0549-5","article-title":"A Novel Missense Variant in the SDR Domain of the WWOX Gene Leads to Complete Loss of WWOX Protein with Early-Onset Epileptic Encephalopathy and Severe Developmental Delay","volume":"19","author":"Johannsen","year":"2018","journal-title":"Neurogenetics"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1750-1172-5-16","article-title":"Niemann-Pick Disease Type C","volume":"5","author":"Vanier","year":"2010","journal-title":"Orphanet J. Rare. Dis."},{"key":"ref_51","doi-asserted-by":"crossref","unstructured":"T\u00fcrkmen, S., Guo, G., Garshasbi, M., Hoffmann, K., Alshalah, A.J., Mischung, C., Kuss, A., Humphrey, N., Mundlos, S., and Robinson, P.N. (2009). CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait. PLoS Genet., 5.","DOI":"10.1371\/journal.pgen.1000487"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1093\/hmg\/dds438","article-title":"Abnormal Cerebellar Development and Ataxia in CARP VIII Morphant Zebrafish","volume":"22","author":"Aspatwar","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1016\/S1474-4422(13)70136-4","article-title":"Joubert Syndrome: Congenital Cerebellar Ataxia with the Molar Tooth","volume":"12","author":"Romani","year":"2013","journal-title":"Lancet Neurol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.3892\/mmr.2014.2342","article-title":"A Familial Late-onset Hereditary Ataxia Mimicking Pontocerebellar Hypoplasia Caused by a Novel TSEN54 Mutation","volume":"10","author":"Qian","year":"2014","journal-title":"Mol. Med. Rep."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1016\/j.biocel.2004.10.015","article-title":"Molecular Cloning and Functional Characterization of Zebrafish ATM","volume":"37","author":"Imamura","year":"2005","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"ref_56","unstructured":"Vierstraete, J., Fieuws, C., Creytens, D., Van Dorpe, J., Willaert, A., Vral, A., and Claes, K. (2020, January 6). Atm Deficient Zebrafish Model Reveals Conservation of the Tumour Suppressor Function. Proceedings of the 20th BESHG Meeting: Genome for All, Brussels, Belgium."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1136\/jmedgenet-2014-102856","article-title":"Neuropathy Target Esterase Impairments Cause Oliver-McFarlane and Laurence-Moon Syndromes","volume":"52","author":"Hufnagel","year":"2015","journal-title":"J. Med. Genet."},{"key":"ref_58","first-page":"404","article-title":"Knockdown of Pnpla6 Protein Results in Motor Neuron Defects in Zebrafish","volume":"6","author":"Song","year":"2013","journal-title":"Dis. Model. Mech."},{"key":"ref_59","doi-asserted-by":"crossref","unstructured":"Kawahara, G., and Hayashi, Y.K. (2016). Characterization of Zebrafish Models of Marinesco-Sj\u00f6gren Syndrome. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0165563"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.nbd.2018.11.019","article-title":"SIL1 Deficiency Causes Degenerative Changes of Peripheral Nerves and Neuromuscular Junctions in Fish, Mice and Human","volume":"124","author":"Phan","year":"2019","journal-title":"Neurobiol. Dis."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"13763","DOI":"10.1038\/s41598-020-70797-2","article-title":"Diverse Species-Specific Phenotypic Consequences of Loss of Function Sorting Nexin 14 Mutations","volume":"10","author":"Bryant","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_62","doi-asserted-by":"crossref","unstructured":"Stainier, D.Y.R., Raz, E., Lawson, N.D., Ekker, S.C., Burdine, R.D., Eisen, J.S., Ingham, P.W., Schulte-Merker, S., Yelon, D., and Weinstein, B.M. (2017). Guidelines for Morpholino Use in Zebrafish. PLoS Genet., 13.","DOI":"10.1371\/journal.pgen.1007000"},{"key":"ref_63","doi-asserted-by":"crossref","unstructured":"Miller, G.W., Ulatowski, L., Labut, E.M., Lebold, K.M., Manor, D., Atkinson, J., Barton, C.L., Tanguay, R.L., and Traber, M.G. (2012). The \u03b1-Tocopherol Transfer Protein Is Essential for Vertebrate Embryogenesis. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0047402"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1016\/j.jnutbio.2011.02.002","article-title":"Zebrafish (Danio Rerio) Fed Vitamin E-Deficient Diets Produce Embryos with Increased Morphologic Abnormalities and Mortality","volume":"23","author":"Miller","year":"2012","journal-title":"J. Nutr. Biochem."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"15028","DOI":"10.1038\/s41598-020-71760-x","article-title":"Vitamin E Is Necessary for Zebrafish Nervous System Development","volume":"10","author":"Head","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1210\/me.2015-1243","article-title":"Assignment of Functional Relevance to Genes at Type 2 Diabetes-Associated Loci Through Investigation of \u03b2-Cell Mass Deficits","volume":"30","author":"Perry","year":"2016","journal-title":"Mol. Endocrinol."},{"key":"ref_67","unstructured":"Cairns, G.E. (2019). Characterisation of a Zebrafish Model of Wolfram Syndrome. [Ph.D. Thesis, Newcastle University]."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1016\/j.celrep.2015.07.023","article-title":"Exome Sequence Analysis Suggests That Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy","volume":"12","author":"Harel","year":"2015","journal-title":"Cell Rep."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.nbd.2016.11.008","article-title":"Functional Validation of ABHD12 Mutations in the Neurodegenerative Disease PHARC","volume":"98","author":"Lavie","year":"2017","journal-title":"Neurobiol. Dis."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/j.devcel.2015.08.006","article-title":"BNIP-H Recruits the Cholinergic Machinery to Neurite Terminals to Promote Acetylcholine Signaling and Neuritogenesis","volume":"34","author":"Sun","year":"2015","journal-title":"Dev. Cell"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1514","DOI":"10.4161\/auto.7.12.18040","article-title":"Expression Pattern and Functions of Autophagy-Related Gene Atg5 in Zebrafish Organogenesis","volume":"7","author":"Hu","year":"2011","journal-title":"Autophagy"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"572","DOI":"10.4161\/auto.27649","article-title":"Autophagy Is Essential for Cardiac Morphogenesis during Vertebrate Development","volume":"10","author":"Lee","year":"2014","journal-title":"Autophagy"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/cdd.2013.175","article-title":"Autophagy Is Required for Zebrafish Caudal Fin Regeneration","volume":"21","author":"Varga","year":"2014","journal-title":"Cell Death Differ."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"1864","DOI":"10.1080\/15548627.2016.1207015","article-title":"Autophagy Regulates Cytoplasmic Remodeling during Cell Reprogramming in a Zebrafish Model of Muscle Regeneration","volume":"12","author":"Kish","year":"2016","journal-title":"Autophagy"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"7161","DOI":"10.1038\/s41598-017-07300-x","article-title":"Metformin Inhibits Cyst Formation in a Zebrafish Model of Polycystin-2 Deficiency","volume":"7","author":"Chang","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_76","first-page":"158","article-title":"Autophagy Activators Suppress Cystogenesis in an Autosomal Dominant Polycystic Kidney Disease Model","volume":"26","author":"Zhu","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"18062","DOI":"10.1074\/jbc.M116.764795","article-title":"Up-Regulation of Autophagy-Related Gene 5 (ATG5) Protects Dopaminergic Neurons in a Zebrafish Model of Parkinson\u2019s Disease","volume":"292","author":"Hu","year":"2017","journal-title":"J. Biol. Chem."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1016\/j.ajhg.2016.04.002","article-title":"Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia","volume":"98","author":"Bouslam","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"ref_79","doi-asserted-by":"crossref","unstructured":"Zdebik, A.A., Mahmood, F., Stanescu, H.C., Kleta, R., Bockenhauer, D., and Russell, C. (2013). Epilepsy in Kcnj10 Morphant Zebrafish Assessed with a Novel Method for Long-Term EEG Recordings. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0079765"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"34325","DOI":"10.1038\/srep34325","article-title":"Gain-of-Function Defects of Astrocytic Kir4.1 Channels in Children with Autism Spectrum Disorders and Epilepsy","volume":"6","author":"Sicca","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_81","doi-asserted-by":"crossref","unstructured":"Zinkevich, N.S., Bosenko, D.V., Link, B.A., and Semina, E.V. (2006). Laminin Alpha 1 Gene Is Essential for Normal Lens Development in Zebrafish. BMC Dev. Biol., 6.","DOI":"10.1186\/1471-213X-6-13"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1242\/dev.123.1.427","article-title":"Zebrafish Mutations Affecting Retinotectal Axon Pathfinding","volume":"123","author":"Karlstrom","year":"1996","journal-title":"Development"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/dvdy.20604","article-title":"Zebrafish Bashful\/Laminin-Alpha 1 Mutants Exhibit Multiple Axon Guidance Defects","volume":"235","author":"Paulus","year":"2006","journal-title":"Dev. Dyn."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.ydbio.2005.10.006","article-title":"Essential and Overlapping Roles for Laminin Alpha Chains in Notochord and Blood Vessel Formation","volume":"289","author":"Pollard","year":"2006","journal-title":"Dev. Biol."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.ydbio.2006.07.005","article-title":"Mutations in Laminin Alpha 1 Result in Complex, Lens-Independent Ocular Phenotypes in Zebrafish","volume":"299","author":"Semina","year":"2006","journal-title":"Dev. Biol."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"2887","DOI":"10.1167\/iovs.06-1212","article-title":"Impaired Retinal Differentiation and Maintenance in Zebrafish Laminin Mutants","volume":"48","author":"Biehlmaier","year":"2007","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"4718","DOI":"10.1093\/hmg\/dds312","article-title":"Epistatic Dissection of Laminin-Receptor Interactions in Dystrophic Zebrafish Muscle","volume":"21","author":"Sztal","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.ydbio.2016.06.025","article-title":"Loss of Laminin Alpha 1 Results in Multiple Structural Defects and Divergent Effects on Adhesion during Vertebrate Optic Cup Morphogenesis","volume":"416","author":"Bryan","year":"2016","journal-title":"Dev. Biol."},{"key":"ref_89","first-page":"10338","article-title":"Zebrafish Lacking Functional DNA Polymerase Gamma Survive to Juvenile Stage, despite Rapid and Sustained Mitochondrial DNA Depletion, Altered Energetics and Growth","volume":"43","author":"Rahn","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1038\/s41419-020-03359-z","article-title":"Efficient Clofilium Tosylate-Mediated Rescue of POLG-Related Disease Phenotypes in Zebrafish","volume":"12","author":"Facchinello","year":"2021","journal-title":"Cell Death Dis."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.ydbio.2003.12.016","article-title":"Evolutionary Conserved Role of Ptf1a in the Specification of Exocrine Pancreatic Fates","volume":"268","author":"Zecchin","year":"2004","journal-title":"Dev. Biol."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1016\/j.ydbio.2004.07.001","article-title":"Differential Requirement for Ptf1a in Endocrine and Exocrine Lineages of Developing Zebrafish Pancreas","volume":"274","author":"Lin","year":"2004","journal-title":"Dev. Biol."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1101\/gad.1663208","article-title":"Graded Levels of Ptf1a Differentially Regulate Endocrine and Exocrine Fates in the Developing Pancreas","volume":"22","author":"Dong","year":"2008","journal-title":"Genes Dev."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"2549","DOI":"10.1523\/JNEUROSCI.4713-10.2011","article-title":"Origin and Determination of Inhibitory Cell Lineages in the Vertebrate Retina","volume":"31","author":"Jusuf","year":"2011","journal-title":"J. Neurosci."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.celrep.2013.01.020","article-title":"Cellular Requirements for Building a Retinal Neuropil","volume":"3","author":"Randlett","year":"2013","journal-title":"Cell Rep."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/j.ydbio.2013.07.011","article-title":"Distinct Enhancers of Ptf1a Mediate Specification and Expansion of Ventral Pancreas in Zebrafish","volume":"381","author":"Pashos","year":"2013","journal-title":"Dev. Biol."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"1682","DOI":"10.1093\/hmg\/ddu580","article-title":"Sqstm1 Knock-down Causes a Locomotor Phenotype Ameliorated by Rapamycin in a Zebrafish Model of ALS\/FTLD","volume":"24","author":"Lattante","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_98","doi-asserted-by":"crossref","unstructured":"Xie, Y., Yang, D., He, Q., and Songyang, Z. (2011). Zebrafish as a Model System to Study the Physiological Function of Telomeric Protein TPP1. PLoS ONE, 6.","DOI":"10.1371\/annotation\/21d9bc69-ccac-49b8-82f2-a6303e93618a"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"1488","DOI":"10.1093\/brain\/awt043","article-title":"A Zebrafish Model of CLN2 Disease Is Deficient in Tripeptidyl Peptidase 1 and Displays Progressive Neurodegeneration Accompanied by a Reduction in Proliferation","volume":"136","author":"Mahmood","year":"2013","journal-title":"Brain"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"86:e4","DOI":"10.1136\/jnnp-2015-312379.61","article-title":"Valproic ACID Extends Lifespan of the Zebrafish Model of CLN2 Disease (Late Infantile Neuronal Ceroid Lipofuscinosis)","volume":"86","author":"Mahmood","year":"2015","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1016\/j.ajhg.2016.06.030","article-title":"Biallelic Variants in UBA5 Reveal That Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy","volume":"99","author":"Colin","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"e727","DOI":"10.7717\/peerj.727","article-title":"Loss of Wwox Expression in Zebrafish Embryos Causes Edema and Alters Ca(2+) Dynamics","volume":"3","author":"Tsuruwaka","year":"2015","journal-title":"PeerJ"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1194\/jlr.M012377","article-title":"Requirement of Npc1 and Availability of Cholesterol for Early Embryonic Cell Movements in Zebrafish","volume":"52","author":"Schwend","year":"2011","journal-title":"J. Lipid Res."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1093\/hmg\/dds401","article-title":"NPC1 Defect Results in Abnormal Platelet Formation and Function: Studies in Niemann-Pick Disease Type C1 Patients and Zebrafish","volume":"22","author":"Louwette","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1515\/hsz-2018-0118","article-title":"Model Construction of Niemann-Pick Type C Disease in Zebrafish","volume":"399","author":"Lin","year":"2018","journal-title":"Biol. Chem."},{"key":"ref_106","doi-asserted-by":"crossref","unstructured":"Tseng, W.-C., Loeb, H.E., Pei, W., Tsai-Morris, C.-H., Xu, L., Cluzeau, C.V., Wassif, C.A., Feldman, B., Burgess, S.M., and Pavan, W.J. (2018). Modeling Niemann-Pick Disease Type C1 in Zebrafish: A Robust Platform for in Vivo Screening of Candidate Therapeutic Compounds. Dis. Model. Mech., 11.","DOI":"10.1242\/dmm.034165"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"2829","DOI":"10.1016\/j.bbagen.2014.04.017","article-title":"Roles of Carbonic Anhydrase 8 in Neuronal Cells and Zebrafish","volume":"1840","author":"Huang","year":"2014","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1038\/ng.366","article-title":"A Common Allele in RPGRIP1L Is a Modifier of Retinal Degeneration in Ciliopathies","volume":"41","author":"Khanna","year":"2009","journal-title":"Nat. Genet."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"4041","DOI":"10.1093\/hmg\/ddr332","article-title":"The Ciliopathy Gene Cc2d2a Controls Zebrafish Photoreceptor Outer Segment Development through a Role in Rab8-Dependent Vesicle Trafficking","volume":"20","author":"Phelps","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"28276","DOI":"10.1074\/jbc.M111.237560","article-title":"Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) Is Associated with Cep290-Mediated Photoreceptor Degeneration in Ciliopathies","volume":"286","author":"Ghosh","year":"2011","journal-title":"J. Biol. Chem."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.visres.2012.09.011","article-title":"Evidence of a Role of Inositol Polyphosphate 5-Phosphatase INPP5E in Cilia Formation in Zebrafish","volume":"75","author":"Luo","year":"2012","journal-title":"Vision Res."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"4517","DOI":"10.1167\/iovs.16-19898","article-title":"Arl13b Interacts With Vangl2 to Regulate Cilia and Photoreceptor Outer Segment Length in Zebrafish","volume":"57","author":"Song","year":"2016","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"2211","DOI":"10.1038\/s41598-018-20489-9","article-title":"The Ciliopathy Protein TALPID3\/KIAA0586 Acts Upstream of Rab8 Activation in Zebrafish Photoreceptor Outer Segment Formation and Maintenance","volume":"8","author":"Cristian","year":"2018","journal-title":"Sci. Rep."},{"key":"ref_114","doi-asserted-by":"crossref","unstructured":"Lessieur, E.M., Song, P., Nivar, G.C., Piccillo, E.M., Fogerty, J., Rozic, R., and Perkins, B.D. (2019). Ciliary Genes Arl13b, Ahi1 and Cc2d2a Differentially Modify Expression of Visual Acuity Phenotypes but Do Not Enhance Retinal Degeneration Due to Mutation of Cep290 in Zebrafish. PLoS ONE, 14.","DOI":"10.1101\/569822"},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1007\/s00018-011-0826-z","article-title":"Modelling a Ciliopathy: Ahi1 Knockdown in Model Systems Reveals an Essential Role in Brain, Retinal, and Renal Development","volume":"69","author":"Simms","year":"2012","journal-title":"Cell Mol. Life Sci."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1167\/iovs.16-20326","article-title":"The Ciliopathy Gene Ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival","volume":"58","author":"Lessieur","year":"2017","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"81","DOI":"10.3389\/fncel.2019.00081","article-title":"Mutant Ahi1 Affects Retinal Axon Projection in Zebrafish via Toxic Gain of Function","volume":"13","author":"Zhu","year":"2019","journal-title":"Front. Cell. Neurosci."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1038\/ng1786","article-title":"The Centrosomal Protein Nephrocystin-6 Is Mutated in Joubert Syndrome and Activates Transcription Factor ATF4","volume":"38","author":"Sayer","year":"2006","journal-title":"Nat. Genet."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"3655","DOI":"10.1093\/hmg\/ddn260","article-title":"Genetic and Physical Interaction between the NPHP5 and NPHP6 Gene Products","volume":"17","author":"Lienkamp","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"2095","DOI":"10.1007\/s00467-008-0898-7","article-title":"Restoration of Renal Function in Zebrafish Models of Ciliopathies","volume":"23","author":"Tobin","year":"2008","journal-title":"Pediatric Nephrol."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1083\/jcb.200908019","article-title":"Basal Body Stability and Ciliogenesis Requires the Conserved Component Poc1","volume":"187","author":"Pearson","year":"2009","journal-title":"J. Cell Biol."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.1002\/humu.22618","article-title":"Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy","volume":"35","author":"Beck","year":"2014","journal-title":"Hum. Mutat."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.ajhg.2013.11.019","article-title":"Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy","volume":"94","author":"Tuz","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"ref_124","doi-asserted-by":"crossref","unstructured":"Zhang, Y., Kecsk\u00e9s, A., Copmans, D., Langlois, M., Crawford, A.D., Ceulemans, B., Lagae, L., de Witte, P.A.M., and Esguerra, C.V. (2015). Pharmacological Characterization of an Antisense Knockdown Zebrafish Model of Dravet Syndrome: Inhibition of Epileptic Seizures by the Serotonin Agonist Fenfluramine. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0125898"},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1007\/s00439-016-1689-z","article-title":"Identification of a Homozygous Nonsense Mutation in KIAA0556 in a Consanguineous Family Displaying Joubert Syndrome","volume":"135","author":"Roosing","year":"2016","journal-title":"Hum. Genet."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1016\/j.celrep.2019.07.025","article-title":"A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling","volume":"28","author":"Frikstad","year":"2019","journal-title":"Cell. Rep."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"1574","DOI":"10.1093\/hmg\/ddr034","article-title":"Impairment of the TRNA-Splicing Endonuclease Subunit 54 (Tsen54) Gene Causes Neurological Abnormalities and Larval Death in Zebrafish Models of Pontocerebellar Hypoplasia","volume":"20","author":"Kasher","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1002\/mds.26716","article-title":"SLC25A46 Mutations Underlie Progressive Myoclonic Ataxia with Optic Atrophy and Neuropathy","volume":"31","author":"Charlesworth","year":"2016","journal-title":"Mov. Disord."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"2877","DOI":"10.1093\/brain\/aww212","article-title":"Loss of Function of SLC25A46 Causes Lethal Congenital Pontocerebellar Hypoplasia","volume":"139","author":"Wan","year":"2016","journal-title":"Brain"},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1038\/ng.3354","article-title":"Mutations in SLC25A46, Encoding a UGO1-like Protein, Cause an Optic Atrophy Spectrum Disorder","volume":"47","author":"Abrams","year":"2015","journal-title":"Nat. Genet."},{"key":"ref_131","doi-asserted-by":"crossref","unstructured":"Buglo, E., Sarmiento, E., Martuscelli, N.B., Sant, D.W., Danzi, M.C., Abrams, A.J., Dallman, J.E., and Z\u00fcchner, S. (2020). Genetic Compensation in a Stable Slc25a46 Mutant Zebrafish: A Case for Using F0 CRISPR Mutagenesis to Study Phenotypes Caused by Inherited Disease. PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0230566"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.1038\/nprot.2013.143","article-title":"Genome Engineering Using the CRISPR-Cas9 System","volume":"8","author":"Ran","year":"2013","journal-title":"Nat. Protoc."}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/10\/4\/836\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T13:58:50Z","timestamp":1760363930000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/10\/4\/836"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,8]]},"references-count":132,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2021,4]]}},"alternative-id":["cells10040836"],"URL":"https:\/\/doi.org\/10.3390\/cells10040836","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4,8]]}}}