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Article

Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.

The Journal of biological chemistry - 13 Jan 2012

Ohto Umeharu, Usui Kimihito, Ochi Toshinari, Yuki Kenjiro, Satow Yoshinori, Shimizu Toshiyuki

Abstract excerpt

G(M1) gangliosidosis and Morquio B are autosomal recessive lysosomal storage diseases associated with a neurodegenerative disorder or dwarfism and skeletal abnormalities, respectively. These diseases are caused by deficiencies in the lysosomal enzyme β-d-galactosidase (β-Gal), which lead to accumulations of the β-Gal substrates, G(M1) ganglioside, and keratan sulfate. β-Gal is an exoglycosidase that catalyzes the...

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PMID: 22128166
DOI: 10.1074/jbc.M111.293795
PMCID: PMC3265862

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