PMID: 22128166

 

    Legend: Gene, Sites

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

Abstract :

1. G(M1) gangliosidosis and Morquio B are autosomal recessive lysosomal storage diseases associated with a neurodegenerative disorder or dwarfism and skeletal abnormalities, respectively
2. 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
3. β-Gal is an exoglycosidase that catalyzes the hydrolysis of terminal β-linked galactose residues
4. This study shows the crystal structures of human β-Gal in complex with its catalytic product galactose or with its inhibitor 1-deoxygalactonojirimycin
5. Human β-Gal is composed of a catalytic TIM barrel domain followed by β-domain 1 and β-domain 2
6. To gain structural insight into the molecular defects of β-Gal in the above diseases, the disease-causing mutations were mapped onto the three-dimensional structure
7. Finally, the possible causes of the diseases are discussed

Output (sent_index, trigger, protein, sugar, site):

Output(Part-Of) (sent_index, protein, site):

• 5. TIM, domain

*Output_Site_Fusion* (sent_index, protein, sugar, site):

 

Protein	NCBI ID	SENTENCE INDEX
-galactosidase	2720	0