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Molecular Genetics and Metabolism, ISSN 1096-7192, 2008, Volume 93, Issue 2, pp. 112 - 128
Journal Article
Biochemical Journal, ISSN 0264-6021, 09/2007, Volume 406, Issue 2, pp. 285 - 295
Fabry disease is a lysosomal storage disorder caused by the deficiency of alpha-Gal A (alpha-galactosidase A) activity. In order to understand the molecular... 
Fabry disease | Endoplasmic reticulum-associated degradation (ERAD) | α-galactosidase A | Active-site-specific chaperone (ASSC) | Protein misfolding | 1-deoxygalactonojirimycin (DGJ) | BIOCHEMISTRY & MOLECULAR BIOLOGY | ATYPICAL VARIANT | LYSOSOMAL STORAGE | QUALITY-CONTROL | NATURAL-HISTORY | active-site-specific chaperone (ASSC) | 1-deoxy-galactonojirimycin (DGJ) | endoplasmic reticulum-associated degradation (ERAD) | CHAPERONE THERAPY | POINT MUTATIONS | GENE | protein misfolding | alpha-galactosidase A | REPLACEMENT THERAPY | ENDOPLASMIC-RETICULUM | PROTEINS | Protein Structure, Tertiary | alpha-Galactosidase - genetics | Fabry Disease - classification | Fabry Disease - genetics | Humans | Cells, Cultured | Enzyme Stability | Cercopithecus aethiops | Models, Molecular | alpha-Galactosidase - metabolism | Fabry Disease - enzymology | Mutation - genetics | Fabry Disease - pathology | Protein Transport | Gene Expression Regulation, Enzymologic | alpha-Galactosidase - chemistry | 1-Deoxynojirimycin - pharmacology | alpha-Galactosidase - isolation & purification | Animals | Cell Communication - drug effects | 1-Deoxynojirimycin - analogs & derivatives | Kinetics | Binding Sites | Hydrogen-Ion Concentration | Index Medicus | DGJ, 1-deoxygalactonojirimycin | 4MU-α-Gal, 4MU α-D-galactopyranoside | GLA, α-Gal A gene | ERAD, endoplasmic reticulum-associated degradation | 4MU, 4-methylumbelliferyl | α-Gal A, α-galactosidase A | DMEM, Dulbecco's modified Eagle's medium | ASSC, active-site-specific chaperone | ER, endoplasmic reticulum | FCS, fetal calf serum
Journal Article
The FEBS Journal, ISSN 1742-464X, 06/2017, Volume 284, Issue 12, pp. 1815 - 1829
Journal Article
FEBS Journal, ISSN 1742-464X, 02/2013, Volume 280, Issue 3, pp. 950 - 964
The thermophilic bacterium Geobacillus stearothermophilus contains a cluster of six genes for the utilization of β–1,4–galactan. The extracellular galactanase... 
ABC | β‐galactosidase | galactan | Geobacillus stearothermophilus | sugar transporter | β‐1,4‐galactanase | β-galactosidase | β-1,4-galactanase | ABC sugar transporter | Geobacillus stearothermophilus | CRYSTAL-STRUCTURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | 4-galactanase | GLYCOSIDE HYDROLASE | SIGNAL PEPTIDES | FAMILY | ALPHA-L-ARABINOFURANOSIDASE | ss-1 | DETAILED KINETIC-ANALYSIS | BACILLUS-SUBTILIS | ss-galactosidase | BETA-GALACTOSIDASE | TITRATION CALORIMETRY | T-6 | Galactans - chemistry | Galactose - metabolism | Multigene Family | Temperature | Glycoside Hydrolases - genetics | Bacterial Proteins - chemistry | Molecular Sequence Data | Substrate Specificity | Geobacillus stearothermophilus - genetics | Geobacillus stearothermophilus - metabolism | Thermodynamics | Oligosaccharides - chemistry | beta-Galactosidase - metabolism | Glycoside Hydrolases - chemistry | Molecular Structure | beta-Galactosidase - chemistry | Binding Sites | Carbohydrate Sequence | Protein Structure, Tertiary | Amino Acid Sequence | Galactans - metabolism | Biocatalysis | Bacterial Proteins - genetics | Models, Molecular | Oligosaccharides - metabolism | Sequence Homology, Amino Acid | Galactose - chemistry | Protein Binding | Bacterial Proteins - metabolism | Glycoside Hydrolases - metabolism | Kinetics | beta-Galactosidase - genetics | Hydrogen-Ion Concentration | Enzymes | Biological products | Analysis | Genes | Cellulose | Hydrolases | Galactose | Plant biology | Bacteria | Cellular biology | Molecular biology | Genomics | Index Medicus
Journal Article
Journal of Internal Medicine, ISSN 0954-6820, 10/2013, Volume 274, Issue 4, pp. 331 - 341
Journal Article
Current Gene Therapy, ISSN 1566-5232, 2018, Volume 18, Issue 2, pp. 96 - 106
Fabry's disease is a genetic disorder of X-linked inheritance caused by mutations in the alpha galactosidase A gene resulting in deficiency of this lysosomal... 
Fabry disease | Viral vectors | Chaperone therapy | Alpha galactosidase A | Gene therapy | Enzyme replacement therapy | MOUSE-MODEL | LYSOSOMAL STORAGE DISEASES | ALPHA-GALACTOSIDASE-A | IN-VITRO | CLINICAL MANIFESTATIONS | GENETICS & HEREDITY | MICE | QUALITY-OF-LIFE | PHARMACOLOGICAL CHAPERONE | GLOBOTRIAOSYLCERAMIDE | Rare Diseases - genetics | Recombinant Proteins - therapeutic use | alpha-Galactosidase - genetics | Dependovirus - genetics | Trihexosylceramides - metabolism | alpha-Galactosidase - therapeutic use | Isoenzymes - therapeutic use | Fabry Disease - genetics | Humans | Biomarkers - analysis | alpha-Galactosidase - administration & dosage | Recombinant Proteins - administration & dosage | Enzyme Replacement Therapy - adverse effects | Enzyme Replacement Therapy - methods | Animals | Rare Diseases - therapy | Isoenzymes - administration & dosage | Mice | Fabry Disease - therapy | Mutation | Genetic Vectors | Disease Models, Animal | Genetic Therapy - adverse effects | Genetic Therapy - methods | Heart | Animal models | Recombination | Enzyme activity | Central nervous system | Medical services | Galactosidase | Chaperones | Tissues | Accumulation | Cerebrovascular system | Renal insufficiency | Pain | Enzymatic activity | a-Galactosidase | Bioaccumulation | Genetics | Bioindicators | Diagnosis | Heart diseases | Recombinant | Enzymes | Signs and symptoms | Stroke | Typing | Medical treatment | Hypohidrosis | Heredity | Pharmacology | Coronary artery disease | Fabry's disease | Quality of life | Laboratory tests | Glycosphingolipids | Stem cells | Biomarkers | Ventricle | Females | Hypertrophy | Proteinuria
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2015, Volume 10, Issue 8, pp. e0134341 - e0134341
Journal Article