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Title: Elimination of the B4Galnt1 gene normalizes lifespan and prevents pathology in Tay-Sachs disease mice
Authors: Seyrantepe, Volkan
Publisher: Elsevier
Abstract: Tay-Sachs disease is a neurodegenerative lysosomal storage disorder caused by mutations in the Hexa gene, which encodes the alpha subunit of lysosomal ß-hexaminidase A (HEXA). HEXA is responsible for the conversion of GM2 to GM3, therefore the deficiency leads to the accumulation of GM2 in the lysosomes, neurodegeneration, and eventual death. Currently, there is no efficient therapy for the disease yet.
Description: 19th Annual WORLD Symposium 22-26 February 2023
ISSN: 1096-7192
Appears in Collections:Molecular Biology and Genetics / Moleküler Biyoloji ve Genetik
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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