Please use this identifier to cite or link to this item: https://hdl.handle.net/11147/12574
Title: Analysis of brain lipids in the early-onset Tay–Sachs disease mouse model with the combined deficiency of β-hexosaminidase A and neuraminidase 3
Authors: Can, Melike
Şengül, Tuğçe
Akyıldız Demir, Seçil
İnci, Orhan K.
Basırlı, Hatice Hande
Seyrantepe, Volkan
Keywords: Tay-Sachs disease
Mouse model
Lipidomics
Gangliosides
Brain
Publisher: Frontiers Media S.A.
Abstract: Tay–Sachs disease is an autosomal recessively inherited lysosomal storage disease that results from loss-of-function mutations in the HEXA gene coding βhexosaminidase A. HEXA gene deficiency affects the central nervous system owing to GM2 ganglioside accumulation in lysosomes resulting in progressive neurodegeneration in patients. We recently generated a novel mice model with a combined deficiency of βhexosaminidase A and neuraminidase 3 (Hexa−/−Neu3−/−) that mimics both the neuropathological and clinical abnormalities of early-onset Tay–Sachs disease. Here, we aimed to explore the secondary accumulation of lipids in the brain of Hexa−/ −Neu3−/− mice.
URI: https://doi.org/10.3389/fmolb.2022.892248
https://hdl.handle.net/11147/12574
Appears in Collections:Molecular Biology and Genetics / Moleküler Biyoloji ve Genetik
PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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