Ontology highlight
ABSTRACT:
SUBMITTER: Chen JC
PROVIDER: S-EPMC7521651 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Chen Joseph C JC Luu Amanda R AR Wise Nathan N Angelis Rolando De R Agrawal Vishal V Mangini Linley L Vincelette Jon J Handyside Britta B Sterling Harry H Lo Melanie J MJ Wong Hio H Galicia Nicole N Pacheco Glenn G Van Vleet Jeremy J Giaramita Alexander A Fong Sylvia S Roy Sushmita M SM Hague Chuck C Lawrence Roger R Bullens Sherry S Christianson Terri M TM d'Azzo Alessandra A Crawford Brett E BE Bunting Stuart S LeBowitz Jonathan H JH Yogalingam Gouri G
The Journal of biological chemistry 20190903 39
Autosomal recessive mutations in the galactosidase β1 (<i>GLB1</i>) gene cause lysosomal β-gal deficiency, resulting in accumulation of galactose-containing substrates and onset of the progressive and fatal neurodegenerative lysosomal storage disease, GM1 gangliosidosis. Here, an enzyme replacement therapy (ERT) approach in fibroblasts from GM1 gangliosidosis patients with recombinant human β-gal (rhβ-gal) produced in Chinese hamster ovary cells enabled direct and precise rhβ-gal delivery to aci ...[more]