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Nature, ISSN 0028-0836, 03/2017, Volume 543, Issue 7643, pp. 108 - 112
Gaucher disease is caused by mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase (GCase). GBA1 mutations drive extensive accumulation of... 
RESPONSES | DENDRITIC CELLS | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | RECEPTORS | C5A | DEFICIENCY | Inflammation - pathology | Glucosylceramidase - genetics | Antigen-Presenting Cells - cytology | Complement Activation | Humans | Complement System Proteins - immunology | Male | Complement C5a - biosynthesis | Gaucher Disease - pathology | Glucosyltransferases - metabolism | Glucosylceramides - immunology | Inflammation - metabolism | Glucosylceramidase - deficiency | Immunoglobulin G - immunology | Gaucher Disease - prevention & control | Receptor, Anaphylatoxin C5a - immunology | Female | Cytokines - immunology | Disease Models, Animal | Complement System Proteins - biosynthesis | Gaucher Disease - metabolism | Gaucher Disease - immunology | Inflammation - immunology | Antigen-Presenting Cells - immunology | Glucosylceramidase - antagonists & inhibitors | Autoantibodies - immunology | Animals | T-Lymphocytes - cytology | Receptor, Anaphylatoxin C5a - deficiency | T-Lymphocytes - immunology | Inflammation - prevention & control | Mice | Complement C5a - immunology | Glucosyltransferases - biosynthesis | Glucosylceramides - metabolism | Cytokines - biosynthesis | Receptor, Anaphylatoxin C5a - metabolism | Physiological aspects | Amides | Health aspects | Gaucher's disease | Enzymes | Inflammation | Genetic disorders | Mutation | Genes | Index Medicus
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2015, Volume 356, Issue 1, pp. 129 - 136
Journal Article
Neurotherapeutics, ISSN 1933-7213, 10/2014, Volume 11, Issue 4, pp. 840 - 856
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2012, Volume 7, Issue 1, pp. e29861 - e29861
Gaucher disease (GD), the most common lysosomal storage disorder, results from the inherited deficiency of the lysosomal enzyme glucocerebrosidase (GCase).... 
MIGLUSTAT | ACID BETA-GLUCOSIDASE | ISOFAGOMINE INCREASES | TYPE-1 | MULTIDISCIPLINARY SCIENCES | MUTATION | Enzyme Activators - pharmacology | Fibroblasts - enzymology | Glucosylceramidase - genetics | Humans | Lysosomes - enzymology | Tissue Extracts - metabolism | Spleen - enzymology | Gaucher Disease - prevention & control | Mutant Proteins - antagonists & inhibitors | Fibroblasts - metabolism | Gaucher Disease - enzymology | Recombinant Proteins - metabolism | Drug Evaluation, Preclinical - methods | Recombinant Proteins - antagonists & inhibitors | Reproducibility of Results | Enzyme Activators - isolation & purification | Cells, Cultured | Enzyme Inhibitors - pharmacology | Mutant Proteins - genetics | Mutant Proteins - metabolism | Glucosylceramidase - metabolism | Enzyme Activation - drug effects | Enzyme Inhibitors - isolation & purification | Glucosylceramidase - antagonists & inhibitors | Gaucher Disease - genetics | Spleen - metabolism | Small Molecule Libraries | Fibroblasts - drug effects | Kinetics | Hydrogen-Ion Concentration | Physiological aspects | Enzymes | Lead compounds | Spleen | Genomics | High-throughput screening | Biochemistry | Genomes | Chaperones | Bone diseases | Biological assays | Drug development | Tissues | Assaying | Medical screening | Patients | Modulators | Data bases | Cofactors | Screening | Fibroblasts | Glucosylceramidase | Mutation | Gaucher's disease | Index Medicus
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2006, Volume 103, Issue 37, pp. 13819 - 13824
Journal Article
Haematologica, ISSN 0390-6078, Volume 97, Issue 9, pp. 1320 - 1328
Journal Article
JAMA, ISSN 0098-7484, 09/2007, Volume 298, Issue 11, pp. 1329 - 1331
Journal Article
Lijecnicki vjesnik, ISSN 0024-3477, 05/2014, Volume 136, Issue 5-6, p. 130
Journal Article
Twin Research and Human Genetics, ISSN 1832-4274, 08/2008, Volume 11, Issue 4, pp. 422 - 430
Journal Article
Clinical Therapeutics, ISSN 0149-2918, 2007, Volume 29, Issue 8, pp. 1645 - 1654
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/1991, Volume 88, Issue 23, pp. 10544 - 10547
Journal Article