GM1 Gangliosidosis—A Mini-Review

GM1 gangliosidosis is a progressive, neurosomatic, lysosomal storage disorder caused by mutations in the GLB1 gene encoding the enzyme β-galactosidase. Absent or reduced β-galactosidase activity leads to the accumulation of β-linked galactose-containing glycoconjugates including the glycosphingolipi...

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Detalles Bibliográficos
Autores principales: Nicoli, Elena-Raluca, Annunziata, Ida, d’Azzo, Alessandra, Platt, Frances M., Tifft, Cynthia J., Stepien, Karolina M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8446533/
https://www.ncbi.nlm.nih.gov/pubmed/34539759
http://dx.doi.org/10.3389/fgene.2021.734878

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8446533/
https://www.ncbi.nlm.nih.gov/pubmed/34539759
http://dx.doi.org/10.3389/fgene.2021.734878

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