Article
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
Biochimica et biophysica acta - 8 Oct 1999
Michalski J C, Klein A
Abstract excerpt
Glycoproteinoses belong to the lysosomal storage disorders group. The common feature of these diseases is the deficiency of a lysosomal protein that is part of glycan catabolism. Most of the lysosomal enzymes involved in the hydrolysis of glycoprotein carbohydrate chains are exo-glycosidases, which stepwise remove terminal monosaccharides. Thus, the deficiency of a single enzyme causes the blockage of the entire...
Topics
- Animals
- Carbohydrate Sequence
- Congenital Disorders of Glycosylation
- Disease Models, Animal
- Fucosidosis
- Glycoside Hydrolases
- Hexosaminidases
- Humans
- Molecular Sequence Data
- Phenotype
- alpha-Mannosidosis