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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.
- Source :
-
Biochimica et biophysica acta [Biochim Biophys Acta] 1999 Oct 08; Vol. 1455 (2-3), pp. 85-103. - Publication Year :
- 1999
-
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.
- Subjects :
- Amino Acid Sequence
Carboxypeptidases chemistry
Carboxypeptidases deficiency
Carboxypeptidases genetics
Cathepsin A
Conserved Sequence
Gangliosidosis, GM1 genetics
Glycoproteins chemistry
Humans
Lysosomes enzymology
Molecular Sequence Data
Mucolipidoses enzymology
Mucopolysaccharidosis IV genetics
Mutation
Neuraminidase chemistry
Neuraminidase deficiency
Receptors, Cell Surface chemistry
Saposins
Sphingolipid Activator Proteins
Structure-Activity Relationship
Substrate Specificity
beta-Galactosidase chemistry
beta-Galactosidase genetics
Gangliosidosis, GM1 enzymology
Mucopolysaccharidosis IV enzymology
beta-Galactosidase deficiency
Subjects
Details
- Language :
- English
- ISSN :
- 0006-3002
- Volume :
- 1455
- Issue :
- 2-3
- Database :
- MEDLINE
- Journal :
- Biochimica et biophysica acta
- Publication Type :
- Academic Journal
- Accession number :
- 10571006
- Full Text :
- https://doi.org/10.1016/s0925-4439(99)00075-7