Article

GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects and Current Therapies

2020-08-05

Abstract excerpt

GM2 gangliosidoses are a group of pathologies characterized by GM2 ganglioside accumulation into the lysosome due to mutations on the genes encoding for the β-hexosaminidases subunits or the GM2 activator protein. Three GM2 gangliosidoses have been described: Tay-Sachs disease, Sandhoff disease, and the AB variant. Central nervous system dysfunction is the main characteristic of GM2 gangliosidoses patients th...

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Literature Corpus work: a1519c51-a894-58ff-a459-0703fa855b50
DOI: 10.20944/preprints202007.0137.v2

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