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Genetics and Therapies for GM2 Gangliosidosis

Tay-Sachs disease, caused by impaired β-N-acetylhexosaminidase activity, was the first GM2 gangliosidosis to be studied and one of the most severe and earliest lysosomal diseases to be described. The condition, associated with the pathological build-up of GM2 ganglioside, has acquired almost iconic...

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Detalles Bibliográficos
Autores principales: Cachón-González, María Begoña, Zaccariotto, Eva, Cox, Timothy Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bentham Science Publishers 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6040173/
https://www.ncbi.nlm.nih.gov/pubmed/29618308
http://dx.doi.org/10.2174/1566523218666180404162622