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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:J Biol Chem
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: American Society for Biochemistry and Molecular Biology 2020
विषय:
Molecular Bases of Disease
ऑनलाइन पहुंच: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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