WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
Permanent URI for this collectionhttps://hdl.handle.net/11147/7150
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Conference Object Abnormal Gm2 Accumulation Alters the Function of the Autophagic Pathway in Early-Onset Tay-Sachs Disease Mouse Model(Academic Press, 2018) Seyrantepe, Volkan; Ateş, Nurselin; Can, Melike; Şengül, Tuğçe; Akyıldız Demir, SeçilTay-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.Conference Object Alteration in Redox Homeostasis in Early-Onset Tay-Sachs Disease Mouse Model(Academic Press, 2020) Seyrantepe, Volkan; Ateş, Nurselin; Başırlı, Hatice Hande; Demir, Seçil Akyıldız; Dağalp, Berkay; Nalbant, Ayten; Çalışkan, Tufan UtkuTay-Sachs disease is an autosomal recessively inherited lysosomal disorder. It is caused by mutations on the HEXA gene encoding α-subunit of β-Hexosaminidase A enzyme. The enzyme normally catalyzes GM2 to GM3 conversion but when it is absent or dysfunctional the GM2 degradation is interrupted. The undegraded GM2 ganglioside is progressively accumulated especially in neurons and causes neurodegenaration at the end. The Hexa−/− mice generated as Tay-Sachs model was nearly normal and a bypass mechanism mediated by a sialidase was suggested. Recently we determined that Neu3 sialidase involves in ganglioside degradation in the Tay-Sachs disease pathology and the Hexa−/-Neu3−/− mice mimic the neuropathologic and clinical phenotype of the disease. It was reported that oxidative stress is triggered in neurodegenerative diseases and several lysosomal disorders. It is caused by the imbalance between antioxidant defence mechanism and production of reactive oxygen species (ROS). ROS have high chemical reactivity which react and damage DNA, protein, carbohydrates and lipids.