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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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Principais autores: Elena-Raluca Nicoli, Ida Annunziata, Alessandra d’Azzo, Frances M. Platt, Cynthia J. Tifft, Karolina M. Stepien
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2021-09-01
Serier:Frontiers in Genetics
Fag:
GM1 gangliosidosis
glycoconjugates metabolism
beta galactosidase
gene therapy
mouse model
Online adgang:https://www.frontiersin.org/articles/10.3389/fgene.2021.734878/full
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