Please use this identifier to cite or link to this item: https://hdl.handle.net/11147/9372
Title: Alteration in redox homeostasis in early-onset Tay-Sachs disease mouse model
Authors: Seyrantepe, Volkan
Ateş, Nurselin
Başırlı, Hatice Hande
Demir, Seçil Akyıldız
Dağalp, Berkay
Nalbant, Ayten
Çalışkan, Tufan Utku
Issue Date: 2020
Publisher: Academic Press
Abstract: Tay-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.
Description: 16th Annual Research Meeting of the WORLDSymposium(TM) -- FEB 10-14, 2020 -- Orlando, FL
URI: https://doi.org/10.1016/j.ymgme.2019.11.388
https://hdl.handle.net/11147/9372
ISSN: 1096-7192
1096-7206
Appears in Collections:Molecular Biology and Genetics / Moleküler Biyoloji ve Genetik
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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