Article
Chemical chaperone therapy: luciferase assay for screening of β-galactosidase mutations.
Molecular genetics and metabolism - 1 Dec 2010
Li Linjing, Higaki Katsumi, Ninomiya Haruaki, Luan Zhuo, Iida Masami, Ogawa Seiichiro, Suzuki Yoshiyuki, Ohno Kousaku, Nanba Eiji
Abstract excerpt
β-Galactosidosis is a group of disorder based on heterogeneous mutations of GLB1 gene coding for the lysosomal acid β-galactosidase (β-gal). A decrease of the β-gal enzyme activity results in progressive accumulation of substrates in somatic cells, particularly in neurons, leading to severe neuronal dysfunction. We have previously reported that N-octyl-4-epi-β-valienamine (NOEV), a chemical chaperone compound,...
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