Intracellular processing and maturation of mutant gene products in hereditary ?-galactosidase deficiency (?-galactosidosis)
- 1 February 1994
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 93 (2), 109-114
- https://doi.org/10.1007/bf00210592
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- A ?-galactosidase gene mutation identified in both Morquio B disease and infantile GM1 gangliosidosisHuman Genetics, 1993
- GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.1991
- Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.1991
- GM1-gangliosidosis. Defective recognition site on beta-galactosidase precursor.Journal of Biological Chemistry, 1986
- IMMUNOELECTRON MICROSCOPIC LOCALIZATION OF LYSOSOMAL BETA-GALACTOSIDASE AND ITS PRECURSOR FORMS IN NORMAL AND MUTANT HUMAN-FIBROBLASTS1986
- INCORPORATION AND DEGRADATION OF GM1 GANGLIOSIDE AND ASIALOGM1 GANGLIOSIDE IN CULTURED FIBROBLASTS FROM NORMAL INDIVIDUALS AND PATIENTS WITH BETA-GALACTOSIDASE DEFICIENCY1986
- Processing of human beta-galactosidase in GM1-gangliosidosis and Morquio B syndrome.Journal of Biological Chemistry, 1984
- Morquio disease, type B: Activation of GM1-β-galactosidase by GM1-activator proteinBiochemical and Biophysical Research Communications, 1982
- ?-Galactosidase deficiency in juvenile and adult patientsHuman Genetics, 1977
- A Method for Determining the Sedimentation Behavior of Enzymes: Application to Protein MixturesJournal of Biological Chemistry, 1961