Please use this identifier to cite or link to this item: https://hdl.handle.net/11147/13772
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dc.contributor.authorSeyrantepe, Volkan-
dc.date.accessioned2023-10-03T07:15:30Z-
dc.date.available2023-10-03T07:15:30Z-
dc.date.issued2023-
dc.identifier.issn1096-7192-
dc.identifier.issn1096-7206-
dc.identifier.urihttps://doi.org/10.1016/j.ymgme.2022.107315-
dc.identifier.urihttps://hdl.handle.net/11147/13772-
dc.description19th Annual WORLD Symposium 22-26 February 2023en_US
dc.description.abstractTay-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.sponsorshipThese results are under validation. Project founded by a Sanofi's grant (SGZ-2019-12810).en_US
dc.language.isoenen_US
dc.publisherElsevieren_US
dc.relation.ispartofMolecular Genetics and Metabolismen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleElimination of the B4Galnt1 gene normalizes lifespan and prevents pathology in Tay-Sachs disease miceen_US
dc.typeConference Objecten_US
dc.authorid0000-0002-0243-5011-
dc.departmentİzmir Institute of Technology. Molecular Biology and Geneticsen_US
dc.identifier.volume138en_US
dc.identifier.issue2en_US
dc.identifier.startpage120en_US
dc.identifier.endpage120en_US
dc.identifier.wosWOS:001013039500333en_US
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanıen_US
dc.relation.conference19th Annual WORLD Symposiumen_US
dc.identifier.doi10.1016/j.ymgme.2022.107315-
dc.identifier.scopusqualityQ2-
item.grantfulltextnone-
item.openairetypeConference Object-
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.languageiso639-1en-
crisitem.author.dept04.03. Department of Molecular Biology and Genetics-
Appears in Collections:Molecular Biology and Genetics / Moleküler Biyoloji ve Genetik
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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