Characterization of a phenotypically severe animal model for human AB-Variant GM2 gangliosidosis

Characterization of a phenotypically severe animal model for human AB-Variant GM2 gangliosidosis

AB-Variant GM2 gangliosidosis (ABGM2) is a rare and lethal genetic disorder caused by mutations in the GM2A gene that lead to fatal accumulation of GM2 gangliosides (GM2) in neurons of the central nervous system (CNS). GM2A encodes a transport protein known as GM2 activator (GM2A) protein, which is...

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Bibliographic Details
Main Authors: Natalie M. Deschenes, Camilyn Cheng, Prem Khanal, Brianna M. Quinville, Alex E. Ryckman, Melissa Mitchell, Alexey V. Pshezhetsky, Jagdeep S. Walia
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-11-01
Series:Frontiers in Molecular Neuroscience
Subjects:
NEU3
ABGM2 gangliosidosis
GM2 activator protein
mouse model
central nervous system
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2023.1242814/full

Internet

https://www.frontiersin.org/articles/10.3389/fnmol.2023.1242814/full

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