Characterization of two α-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease
- 15 June 2000
- journal article
- Published by Elsevier in Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- Vol. 1501 (2-3) , 227-235
- https://doi.org/10.1016/s0925-4439(00)00024-7
Abstract
No abstract availableKeywords
Funding Information
- Ministry of Health and Welfare
- Tokyo Metropolitan Government
- Deutsche Forschungsgemeinschaft (SFB 284)
- Ministry of Education, Culture, Sports, Science and Technology (11672286)
This publication has 28 references indexed in Scilit:
- Only sphingolipid activator protein B (SAP‐B or saposin B) stimulates the degradation of globotriaosylceramide by recombinant human lysosomal α‐galactosidase in a detergent‐free liposomal systemFEBS Letters, 1996
- Aggregation of the Inactive Form of Human α-Galactosidase in the Endoplasmic ReticulumBiochemical and Biophysical Research Communications, 1996
- Identification of tyrosine 108 in coffee bean α-galactosidase as an essential residue for the enzyme activityBiochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology, 1995
- Human α-galactosidase gene expression: significance of two peptide regions encoded by exons 1–2 and 6Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology, 1994
- Characterization of a Mutant α-Galactosidase Gene Product for the Late-Onset Cardiac Form of Fabry DiseaseBiochemical and Biophysical Research Communications, 1993
- Activator proteins and topology of lysosomal sphingolipid catabolismBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1992
- Expression, glycosylation, and intracellular distribution of human β-galactosidase in recombinant baculovirus-infected cellsBiochemical and Biophysical Research Communications, 1990
- Glycosylation and Processing of High Levels of Active Human Glucocerebrosidase in Invertebrate Cells Using a Baculovirus Expression VectorDNA, 1988
- Partial Enzyme Deficiencies: Residual Activities and the Development of Neurological DisordersDevelopmental Neuroscience, 1983
- Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4Nature, 1970