Intermittent enzyme replacement therapy with recombinant human β-galactosidase prevents neuraminidase 1 deficiency

Mutations in the galactosidase β 1 (GLB1) gene cause lysosomal β-galactosidase (β-Gal) deficiency and clinical onset of the neurodegenerative lysosomal storage disease, GM1 gangliosidosis. β-Gal and neuraminidase 1 (NEU1) form a multienzyme complex in lysosomes along with the molecular chaperone, pr...

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Dettagli Bibliografici
Pubblicato in:J Biol Chem
Autori principali: Luu, Amanda R., Wong, Cara, Agrawal, Vishal, Wise, Nathan, Handyside, Britta, Lo, Melanie J., Pacheco, Glenn, Felix, Jessica B., Giaramita, Alexander, d'Azzo, Alessandra, Vincelette, Jon, Bullens, Sherry, Bunting, Stuart, Christianson, Terri M., Hague, Charles M., LeBowitz, Jonathan H., Yogalingam, Gouri
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Biochemistry and Molecular Biology 2020
Soggetti:
Molecular Bases of Disease
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7521647/
https://ncbi.nlm.nih.gov/pubmed/32727849
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA119.010794
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