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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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Detalles Bibliográficos
Autores principales: Leal, Andrés Felipe, Benincore-Flórez, Eliana, Solano-Galarza, Daniela, Garzón Jaramillo, Rafael Guillermo, Echeverri-Peña, Olga Yaneth, Suarez, Diego A., Alméciga-Díaz, Carlos Javier, Espejo-Mojica, Angela Johana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7503724/
https://www.ncbi.nlm.nih.gov/pubmed/32867370
http://dx.doi.org/10.3390/ijms21176213