{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T17:50:34Z","timestamp":1790531434414,"version":"4.1.0"},"reference-count":51,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The CRISPR Journal"],"published-print":{"date-parts":[[2023,2,1]]},"abstract":"<jats:p>\n                    Ganglioside-monosialic acid (GM1) gangliosidosis, a rare autosomal recessive disorder, is frequently caused by deleterious single nucleotide variants (SNVs) in\n                    <jats:italic toggle=\"yes\">GLB1<\/jats:italic>\n                    gene. These variants result in reduced \u03b2-galactosidase (\u03b2-gal) activity, leading to neurodegeneration associated with premature death. Currently, no effective therapy for GM1 gangliosidosis is available. Three ongoing clinical trials aim to deliver a functional copy of the\n                    <jats:italic toggle=\"yes\">GLB1<\/jats:italic>\n                    gene to stop disease progression. In this study, we show that 41% of\n                    <jats:italic toggle=\"yes\">GLB1<\/jats:italic>\n                    pathogenic SNVs can be replaced by adenine base editors (ABEs). Our results demonstrate that ABE efficiently corrects the pathogenic allele in patient-derived fibroblasts, restoring therapeutic levels of \u03b2-gal activity. Off-target DNA analysis did not detect off-target editing activity in treated patient's cells, except a bystander edit without consequences on \u03b2-gal activity based on 3D structure bioinformatics predictions. Altogether, our results suggest that gene editing might be an alternative strategy to cure GM1 gangliosidosis.\n                  <\/jats:p>","DOI":"10.1089\/crispr.2022.0045","type":"journal-article","created":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T10:55:36Z","timestamp":1673434536000},"page":"17-31","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["Gene Editing Corrects\n                    <i>In Vitro<\/i>\n                    a G &gt; A\n                    <i>GLB1<\/i>\n                    Transition from a GM1 Gangliosidosis Patient"],"prefix":"10.1177","volume":"6","author":[{"given":"Delphine","family":"Leclerc","sequence":"first","affiliation":[{"name":"INSERM U1242, OSS, Univ Rennes, Rennes, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Goujon","sequence":"additional","affiliation":[{"name":"CHU Rennes, Service de G\u00e9n\u00e9tique 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