Article
[Structural basis for β-galactosidase associated with lysosomal disease].
Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan - 1 Jan 2013
Shimizu Toshiyuki
Abstract excerpt
G(M1)-gangliosidosis and Morquio B are rare lysosomal storage diseases associated with a neurodegenerative disorder or dwarfism and skeletal abnormalities, respectively. These diseases are caused by deficiencies in the lysosomal enzyme human β-D-galactosidase (h-β-GAL), which lead to accumulations of the h-β-GAL substrates, G(M1) ganglioside and keratan sulfate due to mutations in the h-β-GAL gene. H-β-GAL is an...
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