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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Bibliografski detalji
Izdano u:J Biol Chem
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: American Society for Biochemistry and Molecular Biology 2020
Teme:
Molecular Bases of Disease
Online pristup: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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