Ontology highlight
ABSTRACT:
SUBMITTER: Ohto U
PROVIDER: S-EPMC3265862 | biostudies-literature | 2012 Jan
REPOSITORIES: biostudies-literature
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]