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


ABSTRACT: 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 ?-d-galactosidase (?-Gal), which lead to accumulations of the ?-Gal substrates, G(M1) ganglioside, and keratan sulfate. ?-Gal is an exoglycosidase that catalyzes the hydrolysis of terminal ?-linked galactose residues. This study shows the crystal structures of human ?-Gal in complex with its catalytic product galactose or with its inhibitor 1-deoxygalactonojirimycin. Human ?-Gal is composed of a catalytic TIM barrel domain followed by ?-domain 1 and ?-domain 2. To gain structural insight into the molecular defects of ?-Gal in the above diseases, the disease-causing mutations were mapped onto the three-dimensional structure. Finally, the possible causes of the diseases are discussed.

SUBMITTER: Ohto U 

PROVIDER: S-EPMC3265862 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature

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

Ohto Umeharu U   Usui Kimihito K   Ochi Toshinari T   Yuki Kenjiro K   Satow Yoshinori Y   Shimizu Toshiyuki T  

The Journal of biological chemistry 20111128 3


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 hydrolysis of terminal β-linked galactose residues. This study shows the crystal st  ...[more]

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