Ontology highlight
ABSTRACT:
SUBMITTER: Leal AF
PROVIDER: S-EPMC7503724 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Leal Andrés Felipe AF Benincore-Flórez Eliana E Solano-Galarza Daniela D Garzón Jaramillo Rafael Guillermo RG Echeverri-Peña Olga Yaneth OY Suarez Diego A DA Alméciga-Díaz Carlos Javier CJ Espejo-Mojica Angela Johana AJ
International journal of molecular sciences 20200827 17
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 that include neurodevelopment alterations, neuroinflammation, and neuronal apoptosis. Curr ...[more]