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https://hdl.handle.net/11147/9412
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DC Field | Value | Language |
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dc.contributor.author | Seyrantepe, Volkan | - |
dc.contributor.author | Ateş, Nurselin | - |
dc.contributor.author | Can, Melike | - |
dc.contributor.author | Şengül, Tuğçe | - |
dc.contributor.author | Akyıldız Demir, Seçil | - |
dc.date.accessioned | 2020-07-25T22:10:46Z | - |
dc.date.available | 2020-07-25T22:10:46Z | - |
dc.date.issued | 2018 | - |
dc.identifier.issn | 1096-7192 | - |
dc.identifier.issn | 1096-7206 | - |
dc.identifier.uri | https://doi.org/10.1016/j.ymgme.2017.12.353 | - |
dc.identifier.uri | https://hdl.handle.net/11147/9412 | - |
dc.description | We're Organizing Research for Lysosomal Diseases (WORLD) Symposium -- FEB 05-09, 2018 -- San Diego, CA | en_US |
dc.description.abstract | Tay-Sachs disease (TSD) is an inborn error of metabolism, a prototypical lysosomal disease of the nervous system. In humans, the fatal infantile acute form is the most common, and with no current treatment, prevention and palliative care the only options. TSD mice did not mimic human infantile TSD, and although mice showed some early pathology and storage of GM2 ganglioside, clinical disease would take many months to develop. The extremely mild disease in the TSD mice was likely due to a biochemical bypass, a neuraminidase. We recently demostrated that at least one of the principal murine neuraminidase, Neu3, responsible for the biochemical bypass in the catabolism of the GM2 ganglioside. | en_US |
dc.language.iso | en | en_US |
dc.publisher | Academic Press | en_US |
dc.relation.ispartof | Molecular Genetics and Metabolism | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | Tay-Sachs disease | en_US |
dc.title | Abnormal GM2 accumulation alters the function of the autophagic pathway in early-onset Tay-Sachs disease mouse model | en_US |
dc.type | Conference Object | en_US |
dc.institutionauthor | Seyrantepe, Volkan | - |
dc.institutionauthor | Ateş, Nurselin | - |
dc.institutionauthor | Can, Melike | - |
dc.institutionauthor | Şengül, Tuğçe | - |
dc.institutionauthor | Demir, Seçil Akyıldız | - |
dc.department | İzmir Institute of Technology. Molecular Biology and Genetics | en_US |
dc.identifier.volume | 123 | en_US |
dc.identifier.issue | 2 | en_US |
dc.identifier.startpage | S129 | en_US |
dc.identifier.endpage | S130 | en_US |
dc.identifier.wos | WOS:000424963800346 | en_US |
dc.relation.publicationcategory | Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı | en_US |
dc.identifier.doi | 10.1016/j.ymgme.2017.12.353 | - |
dc.relation.doi | 10.1016/j.ymgme.2017.12.353 | en_US |
dc.coverage.doi | 10.1016/j.ymgme.2017.12.353 | en_US |
local.message.claim | 2022-06-15T16:35:21.372+0300 | * |
local.message.claim | |rp02635 | * |
local.message.claim | |submit_approve | * |
local.message.claim | |dc_contributor_author | * |
local.message.claim | |None | * |
dc.identifier.wosquality | Q2 | - |
dc.identifier.scopusquality | Q3 | - |
item.languageiso639-1 | en | - |
item.openairetype | Conference Object | - |
item.grantfulltext | open | - |
item.cerifentitytype | Publications | - |
item.fulltext | With Fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
crisitem.author.dept | 04.03. Department of Molecular Biology and Genetics | - |
crisitem.author.dept | 04.03. 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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File | Size | Format | |
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1-s2.0-S1096719217311289-main.pdf | 72.74 kB | Adobe PDF | View/Open |
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