Rare Diseases Symptoms Automatic Extraction

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

[gm1 gangliosidosis]

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 structures of human β-Gal in complex with its catalytic product galactose or with its inhibitor 1-deoxygalactonojirimycin. Human β-Gal is composed of a catalytic TIM barrel domain followed by β-domain 1 and β-domain 2. 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. Finally, the possible causes of the diseases are discussed.

Diseases presenting "dwarfism" symptom

  • achondroplasia
  • gm1 gangliosidosis
  • kabuki syndrome
  • lamellar ichthyosis
  • oculocutaneous albinism
  • oligodontia
  • proteus syndrome

This symptom has already been validated