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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2020
Assuntos:
Molecular Bases of Disease
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados