Title : Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease.

Pub. Date : 2012 May

PMID : 22033734






2 Functional Relationships(s)
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1 Our previous work on mutations of the beta-galactosidase (beta-gal) gene, causing GM1 gangliosidosis (GM1) and Morquio B disease (MBD), respectively, characterized clinical phenotypes as well as biosynthesis, intracellular transport and subcellular localization of mutants. G(M1) Ganglioside galactosidase beta 1 Homo sapiens
2 Our previous work on mutations of the beta-galactosidase (beta-gal) gene, causing GM1 gangliosidosis (GM1) and Morquio B disease (MBD), respectively, characterized clinical phenotypes as well as biosynthesis, intracellular transport and subcellular localization of mutants. G(M1) Ganglioside galactosidase beta 1 Homo sapiens