GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies

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...

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Main Authors: Andrés Felipe Leal, Eliana Benincore-Flórez, Daniela Solano-Galarza, Rafael Guillermo Garzón Jaramillo, Olga Yaneth Echeverri-Peña, Diego A. Suarez, Carlos Javier Alméciga-Díaz, Angela Johana Espejo-Mojica
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:International Journal of Molecular Sciences
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Online Access:https://www.mdpi.com/1422-0067/21/17/6213