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The main cause of this disease is a genetic defect in the enzyme \u03b2\u2010galactosidase due to a mutation in the <jats:italic>glb1<\/jats:italic> gene. Lack of this enzyme in cells (especially neurons) leads to the accumulation of ganglioside substrate in nerve tissues, followed by three clinical forms of GM1 disease (neonatal, juvenile, and adult variants). Genetically, many mutations occur in the exons of the <jats:italic>glb1<\/jats:italic> gene, such as exons 2, 6, 15, and 16, so the most common ones reported in scientific studies include missense\/nonsense mutations. Therefore, many studies have examined the genotype\u2010phenotype relationships of this disease and subsequently using gene therapy techniques have been able to reduce the complications of the disease and alleviate the signs and symptoms of the disease. In this regard, the present article reviews the general features of GM1 gangliosidosis and its mutations, as well as gene therapy studies and animal and human models of the disease.<\/jats:p>","DOI":"10.1002\/cbf.3887","type":"journal-article","created":{"date-parts":[[2023,11,29]],"date-time":"2023-11-29T08:19:28Z","timestamp":1701245968000},"page":"1093-1105","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1189-7143","authenticated-orcid":false,"given":"Kamran","family":"Hosseini","sequence":"first","affiliation":[{"name":"Student Research Committee Shiraz University of Medical Sciences Shiraz Iran"},{"name":"Department of Molecular Medicine, Faculty of Advanced Medical Sciences and Technologies Shiraz University of Medical Sciences Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8485-9247","authenticated-orcid":false,"given":"Jafar","family":"Fallahi","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Faculty of Advanced Medical Sciences and Technologies Shiraz University of Medical Sciences Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9923-6969","authenticated-orcid":false,"given":"Seyed M. 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