Elimination of the B4galnt1 Gene Normalizes Lifespan and Prevents Pathology in Tay-Sachs Disease Mice
| dc.contributor.author | Seyrantepe, Volkan | |
| dc.date.accessioned | 2023-10-03T07:15:30Z | |
| dc.date.available | 2023-10-03T07:15:30Z | |
| dc.date.issued | 2023 | |
| dc.description | 19th Annual WORLD Symposium 22-26 February 2023 | en_US |
| dc.description.abstract | Tay-Sachs disease is a neurodegenerative lysosomal storage disorder caused by mutations in the Hexa gene, which encodes the alpha subunit of lysosomal ß-hexaminidase A (HEXA). HEXA is responsible for the conversion of GM2 to GM3, therefore the deficiency leads to the accumulation of GM2 in the lysosomes, neurodegeneration, and eventual death. Currently, there is no efficient therapy for the disease yet. | en_US |
| dc.description.sponsorship | These results are under validation. Project founded by a Sanofi's grant (SGZ-2019-12810). | en_US |
| dc.identifier.doi | 10.1016/j.ymgme.2022.107315 | |
| dc.identifier.issn | 1096-7192 | |
| dc.identifier.issn | 1096-7206 | |
| dc.identifier.uri | https://doi.org/10.1016/j.ymgme.2022.107315 | |
| dc.identifier.uri | https://hdl.handle.net/11147/13772 | |
| dc.language.iso | en | en_US |
| dc.publisher | Elsevier | en_US |
| dc.relation | 19th Annual WORLD Symposium | en_US |
| dc.relation.ispartof | Molecular Genetics and Metabolism | en_US |
| dc.rights | info:eu-repo/semantics/closedAccess | en_US |
| dc.title | Elimination of the B4galnt1 Gene Normalizes Lifespan and Prevents Pathology in Tay-Sachs Disease Mice | en_US |
| dc.type | Conference Object | en_US |
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| gdc.description.department | İzmir Institute of Technology. Molecular Biology and Genetics | en_US |
| gdc.description.endpage | 120 | en_US |
| gdc.description.issue | 2 | en_US |
| gdc.description.publicationcategory | Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı | en_US |
| gdc.description.scopusquality | Q2 | |
| gdc.description.startpage | 120 | en_US |
| gdc.description.volume | 138 | en_US |
| gdc.description.wosquality | Q2 | |
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