title: Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.
abstract: GM1 gangliosidosis and Morquio B disease are distinct disorders both clinically and biochemically yet they arise from the same beta-galactosidase enzyme deficiency. On the other hand, galactosialidosis and sialidosis share common clinical and biochemical features, yet they arise from two separate enzyme deficiencies, namely, protective protein/cathepsin A and neuraminidase, respectively. However distinct, in practice these disorders overlap both clinically and biochemically so that easy discrimination between them is sometimes difficult. The principle reason for this may be found in the fact that these three enzymes form a unique complex in lysosomes that is required for their stability and posttranslational processing. In this review, I focus mainly on the primary and secondary beta-galactosidase deficiency states and offer some hypotheses to account for differences between GM1 gangliosidosis and Morquio B disease.
authors.affiliation: Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, ON, Canada. jwc@sickkids.on.ca
authors.forename: J W
authors.initials: JW
authors.lastname: Callahan
mesh_terms: D000595:Amino Acid Sequence; D002268:Carboxypeptidases / Q000737:chemistry / Q000172:deficiency / Q000235:genetics; D043402:Cathepsin A; D017124:Conserved Sequence; D016537:Gangliosidosis, GM1 / Q000201:enzymology* / Q000235:genetics; D006023:Glycoproteins / Q000737:chemistry; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D008969:Molecular Sequence Data; D009081:Mucolipidoses / Q000201:enzymology; D009085:Mucopolysaccharidosis IV / Q000201:enzymology* / Q000235:genetics; D009154:Mutation; D009439:Neuraminidase / Q000737:chemistry / Q000172:deficiency; D011956:Receptors, Cell Surface / Q000737:chemistry; D049231:Saposins; D049128:Sphingolipid Activator Proteins; D013329:Structure-Activity Relationship; D013379:Substrate Specificity; D001616:beta-Galactosidase / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics
chemical_list: D006023:Glycoproteins; C483345:PSAP protein, human; D011956:Receptors, Cell Surface; D049231:Saposins; D049128:Sphingolipid Activator Proteins; C054901:elastin-binding proteins; D009439:Neuraminidase; D001616:beta-Galactosidase; D002268:Carboxypeptidases; C468629:CTSA protein, human; D043402:Cathepsin A