Lithium Treatment Rescues Dysfunctional Autophagy in the Cell Models of Tay-Sachs Disease
| dc.contributor.author | Seyrantepe, Volkan | |
| dc.contributor.author | Can,M. | |
| dc.contributor.author | Sengul,T. | |
| dc.contributor.author | Seyrantepe,V. | |
| dc.contributor.other | 01. Izmir Institute of Technology | |
| dc.contributor.other | 04.03. Department of Molecular Biology and Genetics | |
| dc.contributor.other | 04. Faculty of Science | |
| dc.date.accessioned | 2024-03-03T16:40:37Z | |
| dc.date.available | 2024-03-03T16:40:37Z | |
| dc.date.issued | 2024 | |
| dc.description.abstract | Tay-Sachs disease is a rare lysosomal storage disorder (LSD) caused by a mutation in the HexA gene coding β-hexosaminidase A enzyme. The disruption of the HexA gene causes the accumulation of GM2 ganglioside resulting in progressive neurodegeneration in humans. Surprisingly, Hexa−/− mice did not show neurological phenotypes. Our group recently generated a murine model of Tay-Sachs disease exhibiting excessive GM2 accumulation and severe neuropathological abnormalities mimicking Tay-Sachs patients. Previously, we reported impaired autophagic flux in the brain of Hexa/-Neu3−/− mice. However, regulation of autophagic flux using inducers has not been clarified in Tay-Sachs disease cells. Here, we evaluated the effects of lithium treatment on dysfunctional autophagic flux using LC3 and p62 in the fibroblast and neuroglia of Hexa−/-Neu3−/− mice and Tay-Sachs patients. We discovered the clearance of accumulating autophagosomes, aggregate-prone metabolites, and GM2 ganglioside under lithium-induced conditions. Our data suggest that targeting autophagic flux with an autophagy inducer might be a rational therapeutic strategy for the treatment of Tay-Sachs disease. © 2024 Elsevier Inc. | en_US |
| dc.description.sponsorship | TUBITAK-France, (120N552); Türkiye Bilimsel ve Teknolojik Araştırma Kurumu, TÜBİTAK, (119Z542) | en_US |
| dc.identifier.doi | 10.1016/j.ymgme.2024.108140 | |
| dc.identifier.issn | 1096-7192 | |
| dc.identifier.scopus | 2-s2.0-85183547725 | |
| dc.identifier.uri | https://doi.org/10.1016/j.ymgme.2024.108140 | |
| dc.identifier.uri | https://hdl.handle.net/11147/14301 | |
| dc.language.iso | en | en_US |
| dc.publisher | Academic Press Inc. | en_US |
| dc.relation.ispartof | Molecular Genetics and Metabolism | en_US |
| dc.rights | info:eu-repo/semantics/closedAccess | en_US |
| dc.subject | Autophagy | en_US |
| dc.subject | Autophagy inducer | en_US |
| dc.subject | lithium | en_US |
| dc.subject | Lysosomal storage disorder | en_US |
| dc.subject | Tay-Sachs disease | en_US |
| dc.title | Lithium Treatment Rescues Dysfunctional Autophagy in the Cell Models of Tay-Sachs Disease | en_US |
| dc.type | Article | en_US |
| dspace.entity.type | Publication | |
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| gdc.coar.access | metadata only access | |
| gdc.coar.type | text::journal::journal article | |
| gdc.collaboration.industrial | false | |
| gdc.description.department | Izmir Institute of Technology | en_US |
| gdc.description.departmenttemp | Basirli H., İzmir Institute of Technology, Department of Molecular Biology and Genetics, İzmir, Turkey; Can M., İzmir Institute of Technology, Department of Molecular Biology and Genetics, İzmir, Turkey; Sengul T., İzmir Institute of Technology, Department of Molecular Biology and Genetics, İzmir, Turkey; Seyrantepe V., İzmir Institute of Technology, Department of Molecular Biology and Genetics, İzmir, Turkey, İzmir Institute of Technology, IYTEDEHAM, İzmir, Turkey | en_US |
| gdc.description.issue | 3 | en_US |
| gdc.description.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| gdc.description.scopusquality | Q2 | |
| gdc.description.volume | 141 | en_US |
| gdc.description.wosquality | Q2 | |
| gdc.identifier.openalex | W4390754806 | |
| gdc.identifier.pmid | 38262289 | |
| gdc.identifier.wos | WOS:001168036800001 | |
| gdc.index.type | WoS | |
| gdc.index.type | Scopus | |
| gdc.index.type | PubMed | |
| gdc.oaire.diamondjournal | false | |
| gdc.oaire.impulse | 0.0 | |
| gdc.oaire.influence | 2.635068E-9 | |
| gdc.oaire.isgreen | true | |
| gdc.oaire.keywords | Mice | |
| gdc.oaire.keywords | Tay-Sachs Disease | |
| gdc.oaire.keywords | Autophagy | |
| gdc.oaire.keywords | Lithium Compounds | |
| gdc.oaire.keywords | Humans | |
| gdc.oaire.keywords | Animals | |
| gdc.oaire.keywords | G(M2) Ganglioside | |
| gdc.oaire.keywords | Lithium | |
| gdc.oaire.keywords | beta-N-Acetylhexosaminidases | |
| gdc.oaire.popularity | 3.0009937E-9 | |
| gdc.oaire.publicfunded | false | |
| gdc.openalex.collaboration | National | |
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| gdc.openalex.normalizedpercentile | 0.56 | |
| gdc.opencitations.count | 0 | |
| gdc.plumx.mendeley | 15 | |
| gdc.plumx.scopuscites | 1 | |
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