Page last updated: 2024-10-19

inositol and Acid beta-Glucosidase Deficiency

inositol has been researched along with Acid beta-Glucosidase Deficiency in 49 studies

Inositol: An isomer of glucose that has traditionally been considered to be a B vitamin although it has an uncertain status as a vitamin and a deficiency syndrome has not been identified in man. (From Martindale, The Extra Pharmacopoeia, 30th ed, p1379) Inositol phospholipids are important in signal transduction.
inositol : Any cyclohexane-1,2,3,4,5,6-hexol.
1D-chiro-inositol : Belonging to the inositol family of compounds, D-chiro-inositol (DCI) is an isomer of glucose. It is an important secondary messenger in insulin signal transduction.
muco-inositol : An inositol that is cyclohexane-1,2,3,4,5,6-hexol having a (1R,2R,3r,4R,5S,6r)-configuration.

Research Excerpts

ExcerptRelevanceReference
"To elucidate the genetic heterogeneity in Gaucher disease, the residual beta-glucosidase in cultured fibroblasts from affected patients with each of the major phenotypes was investigated in vitro and/or in viable cells by inhibitor studies using the covalent catalytic site inhibitors, conduritol B epoxide or its bromo derivative, and the reversible cationic inhibitor, sphingosine."7.67Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine. ( Dinur, T; Gatt, S; Grabowski, GA; Kruse, JR; Legler, G; Osiecki, KM, 1985)
"To elucidate the genetic heterogeneity in Gaucher disease, the residual beta-glucosidase in cultured fibroblasts from affected patients with each of the major phenotypes was investigated in vitro and/or in viable cells by inhibitor studies using the covalent catalytic site inhibitors, conduritol B epoxide or its bromo derivative, and the reversible cationic inhibitor, sphingosine."3.67Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine. ( Dinur, T; Gatt, S; Grabowski, GA; Kruse, JR; Legler, G; Osiecki, KM, 1985)
"Gaucher disease is a lysosomal storage disease in which a genetic deficiency in β-glucocerebrosidase leads to the accumulation of glycosphingolipids in lysosomes."1.56Chemical inhibition of β-glucocerebrosidase does not affect phagocytosis and early containment of Leishmania by murine macrophages. ( Castro, H; Macedo, MF; Ribeiro, H; Rocha, MI, 2020)
"Gaucher disease is an autosomal recessive disease, caused by a lack or functional deficiency of the lysosomal enzyme, glucocerebrosidase (GCase)."1.42Glucocerebrosidase deficiency and mitochondrial impairment in experimental Parkinson disease. ( Alvarez-Fischer, D; Andreas, H; Hirsch, EC; Höglinger, GU; Höllerhage, M; Lu, L; Noelker, C; Oertel, WH; Roscher, R; Sturn, A; Vulinovic, F, 2015)
"Fabry and Gaucher diseases are rare progressive inherited disorders of glycosphingolipid metabolism that affect multiple organ systems."1.37Magnetic resonance spectroscopy in patients with Fabry and Gaucher disease. ( Bodamer, O; Bogner, W; Gruber, S; Krssak, M; Stadlbauer, A, 2011)
"One of the cardinal symptoms of type 1 Gaucher Disease (GD) is cytopenia, usually explained by bone marrow (BM) infiltration by Gaucher cells and hypersplenism."1.36Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease. ( Berger, J; Berger, MG; Boiret-Dupré, N; Boisgard, S; Caillaud, C; Chomienne, C; Larghero, J; Lecourt, S; Marolleau, JP; Rapatel, C; Vanneaux, V, 2010)
"Gaucher disease is an inherited metabolic disorder caused by mutations in the lysosomal enzyme acid-beta-glucosidase (GlcCerase)."1.33X-ray structure of human acid-beta-glucosidase covalently bound to conduritol-B-epoxide. Implications for Gaucher disease. ( Boldin-Adamsky, S; Futerman, AH; Kelly, JW; Premkumar, L; Sawkar, AR; Silman, I; Sussman, JL; Toker, L, 2005)
"To investigate the relationship between glucocerebrosidase deficiency and epidermal permeability barrier function, we compared the stratum corneum (SC) ultrastructure, lipid content, and barrier function of Gaucher mice to carrier and normal mice, and to hairless mice treated topically with bromoconduritol B epoxide (BrCBE), an irreversible inhibitor of glucocerebrosidase."1.29Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. ( Elias, PM; Fartasch, M; Ginns, EI; Grundmann, JU; Holleran, WM; McKinney, CE; Menon, GK; Sidransky, E, 1994)
"Gaucher disease is the most common lysosomal glycosphingolipid storage disease; decreased activity of glucosylceramide beta-glucosidase (GCase) results in the accumulation of glucocerebroside (GlcCer) in macrophage-derived cells."1.29In vitro accumulation of glucocerebroside in neuroblastoma cells: a model for study of Gaucher disease pathobiology. ( Chaturvedi, P; Newburg, DS; Prence, EM, 1996)
"To date, enzymatic diagnosis of Gaucher's disease via a fluorometric assay procedure which utilizes 4-methylumbelliferyl-beta-D-glucopyranoside as a substrate has not been possible when liver serves as the source of enzyme since currently employed fluorometric procedures cannot adequately differentiate between a broad-specificity beta-glucosidase and lysosomal glucocerebrosidase activities in crude extracts of liver."1.26A revised fluorometric assay for Gaucher's disease using conduritol-beta-epoxide with liver as the source of Beta-glucosidase. ( Daniels, LB; Glew, RH; Radin, NS; Vunnam, RR, 1980)
" Sixteen newborn Swiss mice received a daily subcutaneous dosage of 100 mg/kg of body weight of conduritol-B-epoxide from one day after birth to 28 days."1.26Gaucher disease in mice induced by conduritol-B-epoxide: morphologic features. ( Adachi, M; Volk, BW, 1977)

Research

Studies (49)

TimeframeStudies, this research(%)All Research%
pre-199020 (40.82)18.7374
1990's4 (8.16)18.2507
2000's7 (14.29)29.6817
2010's17 (34.69)24.3611
2020's1 (2.04)2.80

Authors

AuthorsStudies
Ribeiro, H1
Rocha, MI1
Castro, H1
Macedo, MF1
Dermentzaki, G1
Dimitriou, E1
Xilouri, M1
Michelakakis, H1
Stefanis, L1
Mucci, JM2
Suqueli García, F1
de Francesco, PN1
Ceci, R1
Di Genaro, S1
Fossati, CA1
Delpino, MV2
Rozenfeld, PA2
Ginns, EI2
Mak, SK1
Ko, N1
Karlgren, J1
Akbarian, S1
Chou, VP1
Guo, Y1
Lim, A1
Samuelsson, S1
LaMarca, ML1
Vazquez-DeRose, J1
Manning-Boğ, AB2
Xu, YH3
Xu, K1
Sun, Y4
Liou, B1
Quinn, B3
Li, RH1
Xue, L1
Zhang, W1
Setchell, KD1
Witte, D3
Grabowski, GA8
Adams, BT1
Niccoli, S1
Chowdhury, MA1
Esarik, AN1
Lees, SJ1
Rempel, BP1
Phenix, CP1
Noelker, C1
Lu, L1
Höllerhage, M1
Vulinovic, F1
Sturn, A1
Roscher, R1
Höglinger, GU1
Hirsch, EC1
Oertel, WH1
Alvarez-Fischer, D1
Andreas, H1
Marshall, J1
Bangari, DS1
Budman, E1
Park, H1
Nietupski, JB1
Allaire, A1
Cromwell, MA1
Wang, B1
Leonard, JP1
Cheng, SH1
Hayashi, Y1
Ito, M1
Vardi, A1
Zigdon, H1
Meshcheriakova, A1
Klein, AD2
Yaacobi, C1
Eilam, R1
Kenwood, BM1
Rahim, AA1
Massaro, G1
Merrill, AH2
Vitner, EB1
Futerman, AH5
Ferreira, NS1
Ben-Dor, S1
Duan, J1
Hardy, J1
Cox, TM1
Bondar, C1
Ormazabal, M1
Crivaro, A1
Ferreyra-Compagnucci, M1
Schüle, B1
Langston, JW1
Campeau, PM1
Rafei, M1
Boivin, MN1
Galipeau, J1
Balreira, A1
Cavallari, M1
Sá Miranda, MC2
Arosa, FA1
Gruber, S1
Bogner, W1
Stadlbauer, A1
Krssak, M1
Bodamer, O1
Berger, J1
Lecourt, S2
Vanneaux, V2
Rapatel, C1
Boisgard, S1
Caillaud, C2
Boiret-Dupré, N1
Chomienne, C2
Marolleau, JP2
Larghero, J2
Berger, MG1
Ran, H1
Yap, TL1
Gruschus, JM1
Velayati, A1
Westbroek, W1
Goldin, E1
Moaven, N1
Sidransky, E2
Lee, JC1
Cras, A1
Freida, D1
Heraoui, D1
Herbi, L1
Belmatoug, N1
Bodennec, J1
Pelled, D2
Riebeling, C1
Trajkovic, S1
Schueler, UH1
Kolter, T1
Kaneski, CR1
Zirzow, GC1
Sandhoff, K1
Brady, RO1
Premkumar, L1
Sawkar, AR1
Boldin-Adamsky, S1
Toker, L1
Silman, I1
Kelly, JW1
Sussman, JL1
Reboulet, R1
Huelsken, J1
Daniels, LB2
Glew, RH4
Radin, NS2
Vunnam, RR1
Stephens, MC4
Bernatsky, A3
Singh, H2
Kanfer, JN5
Legler, G8
Diven, WF1
Lee, RE2
Gatt, S5
Dinur, T4
Desnick, RJ3
Gregoriadis, G1
Weereratne, H1
Blair, H1
Bull, GM1
Holleran, WM1
Menon, GK1
Grundmann, JU1
Fartasch, M1
McKinney, CE1
Elias, PM1
Kohen, E1
Kohen, C1
Hirschberg, JG1
Santus, R1
Grabowski, G1
Mangel, W1
Prince, J1
van Weely, S1
Brandsma, M1
Strijland, A1
Tager, JM3
Aerts, JM3
Prence, EM1
Chaturvedi, P1
Newburg, DS4
Shogomori, H1
Burachinsky, V1
Adachi, M1
Volk, BW1
Sullivan, J1
Raghavan, SS2
Mumford, RA1
Butcher, BA1
Gopalan, V1
Richards, TC1
Waggoner, AS1
Donker-Koopman, WE1
Koot, M1
Barranger, JA2
Schram, AW2
Yatziv, S3
McCluer, RH2
Raghavan, S1
Osiecki-Newman, K1
Fabbro, D1
Pinto, RA1
Magalhaes, JA1
Livni, N1
Barfi, G1
Kolodny, EH1
Shea, TB1
Osiecki, KM2
Basu, A1
Kruse, JR1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
Ambroxol as a Novel Disease Modifying Treatment for Lewy Body Dementia[NCT04405596]Phase 1/Phase 215 participants (Anticipated)Interventional2025-01-31Not yet recruiting
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Reviews

1 review available for inositol and Acid beta-Glucosidase Deficiency

ArticleYear
Klotho-Related Protein KLrP: Structure and Functions.
    Vitamins and hormones, 2016, Volume: 101

    Topics: Animals; Brain; Crystallography, X-Ray; Cytosol; Fibroblasts; Gaucher Disease; Gene Knockdown Techni

2016

Other Studies

48 other studies available for inositol and Acid beta-Glucosidase Deficiency

ArticleYear
Chemical inhibition of β-glucocerebrosidase does not affect phagocytosis and early containment of Leishmania by murine macrophages.
    Experimental parasitology, 2020, Volume: 216

    Topics: Animals; Enzyme Inhibitors; Flow Cytometry; Gaucher Disease; Glucosylceramidase; Inositol; Leishmani

2020
Loss of β-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells.
    PloS one, 2013, Volume: 8, Issue:4

    Topics: alpha-Synuclein; Animals; Autophagy; Cell Differentiation; Cell Line; Gaucher Disease; Glucosylceram

2013
Uncoupling of osteoblast-osteoclast regulation in a chemical murine model of Gaucher disease.
    Gene, 2013, Dec-15, Volume: 532, Issue:2

    Topics: Animals; Antigens, Differentiation; Bone Marrow Cells; Calcification, Physiologic; Cell Differentiat

2013
Neuroinflammation and α-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction.
    Molecular genetics and metabolism, 2014, Volume: 111, Issue:2

    Topics: alpha-Synuclein; Animals; Corpus Striatum; Disease Models, Animal; Dopamine; Evoked Potentials, Moto

2014
Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice.
    Human molecular genetics, 2014, Aug-01, Volume: 23, Issue:15

    Topics: alpha-Synuclein; Amyloid beta-Protein Precursor; Animals; beta-Glucosidase; Cells, Cultured; Cerebra

2014
N-Alkylated aziridines are easily-prepared, potent, specific and cell-permeable covalent inhibitors of human β-glucocerebrosidase.
    Chemical communications (Cambridge, England), 2015, Jul-21, Volume: 51, Issue:57

    Topics: Alkylation; Aziridines; Enzyme Inhibitors; Gaucher Disease; Glucosylceramidase; HeLa Cells; Humans;

2015
Glucocerebrosidase deficiency and mitochondrial impairment in experimental Parkinson disease.
    Journal of the neurological sciences, 2015, Sep-15, Volume: 356, Issue:1-2

    Topics: 1-Deoxynojirimycin; 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine; Animals; Brain; Cell Count; Cells,

2015
CNS-accessible Inhibitor of Glucosylceramide Synthase for Substrate Reduction Therapy of Neuronopathic Gaucher Disease.
    Molecular therapy : the journal of the American Society of Gene Therapy, 2016, Volume: 24, Issue:6

    Topics: Administration, Oral; Animals; Carbamates; Central Nervous System; Disease Models, Animal; Enzyme In

2016
Delineating pathological pathways in a chemically induced mouse model of Gaucher disease.
    The Journal of pathology, 2016, Volume: 239, Issue:4

    Topics: Animals; Disease Models, Animal; Gaucher Disease; Gene Expression Profiling; Inositol; Mice

2016
Identification of Modifier Genes in a Mouse Model of Gaucher Disease.
    Cell reports, 2016, 09-06, Volume: 16, Issue:10

    Topics: Animals; Base Sequence; Disease Models, Animal; Gaucher Disease; Genes, Modifier; Genome-Wide Associ

2016
Osteocyte Alterations Induce Osteoclastogenesis in an In Vitro Model of Gaucher Disease.
    International journal of molecular sciences, 2017, Jan-13, Volume: 18, Issue:1

    Topics: Animals; Apoptosis; Bone Marrow Cells; Cell Differentiation; Cell Line; Connexin 43; Culture Media,

2017
Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism.
    Neurotoxicology, 2009, Volume: 30, Issue:6

    Topics: alpha-Synuclein; Analysis of Variance; Animals; Cell Differentiation; Disease Models, Animal; Dose-R

2009
Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome.
    Blood, 2009, Oct-08, Volume: 114, Issue:15

    Topics: Adipocytes; Amino Acid Substitution; Bone Marrow Cells; Cell Differentiation; Cells, Cultured; Chemo

2009
Uncoupling between CD1d upregulation induced by retinoic acid and conduritol-B-epoxide and iNKT cell responsiveness.
    Immunobiology, 2010, Volume: 215, Issue:6

    Topics: Antigens, CD1d; Antineoplastic Agents; CD4-Positive T-Lymphocytes; CD8-Positive T-Lymphocytes; Cell

2010
Magnetic resonance spectroscopy in patients with Fabry and Gaucher disease.
    European journal of radiology, 2011, Volume: 79, Issue:2

    Topics: Adult; Aspartic Acid; Case-Control Studies; Choline; Creatine; Fabry Disease; Female; Gaucher Diseas

2011
Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease.
    British journal of haematology, 2010, Volume: 150, Issue:1

    Topics: Bone Marrow Cells; Cell Proliferation; Cells, Cultured; Colony-Forming Units Assay; Enzyme Inhibitor

2010
Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models.
    Molecular genetics and metabolism, 2011, Volume: 102, Issue:4

    Topics: Age Factors; alpha-Synuclein; Animals; beta-Glucosidase; Brain; Disease Models, Animal; Gaucher Dise

2011
Alpha-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases.
    The Journal of biological chemistry, 2011, Aug-12, Volume: 286, Issue:32

    Topics: alpha-Synuclein; Amino Acid Substitution; Cell Line, Tumor; Enzyme Inhibitors; Gaucher Disease; Gluc

2011
Bone marrow microenvironment in an in vitro model of Gaucher disease: consequences of glucocerebrosidase deficiency.
    Stem cells and development, 2012, Jan-20, Volume: 21, Issue:2

    Topics: Bone Marrow; Bone Resorption; Cell Cycle; Cell Differentiation; Cell Movement; Cell Proliferation; C

2012
Phosphatidylcholine synthesis is elevated in neuronal models of Gaucher disease due to direct activation of CTP:phosphocholine cytidylyltransferase by glucosylceramide.
    FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2002, Volume: 16, Issue:13

    Topics: Animals; Axons; Brain; Carbon Radioisotopes; Cell Division; Choline; Choline-Phosphate Cytidylyltran

2002
Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.
    Journal of inherited metabolic disease, 2004, Volume: 27, Issue:5

    Topics: Animals; Cell Culture Techniques; Cell Line; Chromatography, High Pressure Liquid; Dose-Response Rel

2004
X-ray structure of human acid-beta-glucosidase covalently bound to conduritol-B-epoxide. Implications for Gaucher disease.
    The Journal of biological chemistry, 2005, Jun-24, Volume: 280, Issue:25

    Topics: beta-Glucosidase; Binding Sites; Catalysis; Crystallography, X-Ray; Gaucher Disease; Humans; Inosito

2005
Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels.
    Molecular genetics and metabolism, 2008, Volume: 94, Issue:2

    Topics: Animals; Central Nervous System; Cytokines; Disease Models, Animal; Disease Progression; Female; Gau

2008
A revised fluorometric assay for Gaucher's disease using conduritol-beta-epoxide with liver as the source of Beta-glucosidase.
    Clinica chimica acta; international journal of clinical chemistry, 1980, Sep-25, Volume: 106, Issue:2

    Topics: beta-Glucosidase; Clinical Enzyme Tests; Fluorometry; Gaucher Disease; Glucosidases; Glucosylceramid

1980
Distribution of conduritol B epoxide in the animal model for Gaucher's disease (Gaucher mouse).
    Biochimica et biophysica acta, 1981, Jan-07, Volume: 672, Issue:1

    Topics: Animals; beta-Glucosidase; Blood-Brain Barrier; Disease Models, Animal; Gaucher Disease; Glucosidase

1981
An improved fluorometric leukocyte beta-glucosidase assay for Gaucher's disease.
    Clinica chimica acta; international journal of clinical chemistry, 1981, Volume: 115, Issue:3

    Topics: Adolescent; beta-Glucosidase; Clinical Enzyme Tests; Female; Fibroblasts; Fluorometry; Gaucher Disea

1981
Studies on human acid beta-glucosidase and the nature of the molecular defect in type 1 Ashkenazi Gaucher disease.
    Progress in clinical and biological research, 1982, Volume: 95

    Topics: beta-Glucosidase; Detergents; Europe; Gaucher Disease; Glucosidases; Glucosides; Humans; Hydrolysis;

1982
The Gaucher mouse.
    Progress in clinical and biological research, 1982, Volume: 95

    Topics: Acid Phosphatase; Animals; beta-Glucosidase; Brain; Cerebrosides; Disease Models, Animal; Galactosyl

1982
Liposomes in Gaucher type I disease: use in enzyme therapy and the creation of an animal model.
    Progress in clinical and biological research, 1982, Volume: 95

    Topics: Adult; Animals; beta-Glucosidase; Disease Models, Animal; Female; Gaucher Disease; Glucosidases; Glu

1982
Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease.
    The Journal of clinical investigation, 1994, Volume: 93, Issue:4

    Topics: Animals; Cyclohexenes; Epidermis; Gaucher Disease; Glucosylceramidase; Humans; Inositol; Mice; Mice,

1994
An in situ study of beta-glucosidase activity in normal and Gaucher fibroblasts with fluorogenic probes.
    Cell biochemistry and function, 1993, Volume: 11, Issue:3

    Topics: beta-Galactosidase; beta-Glucosidase; Cells, Cultured; Fibroblasts; Fluorescent Dyes; Gaucher Diseas

1993
Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease.
    Biochimica et biophysica acta, 1993, Mar-24, Volume: 1181, Issue:1

    Topics: beta-Glucosidase; Cells, Cultured; Gaucher Disease; Glucosylceramidase; Humans; Hydrogen-Ion Concent

1993
In vitro accumulation of glucocerebroside in neuroblastoma cells: a model for study of Gaucher disease pathobiology.
    Journal of neuroscience research, 1996, Feb-01, Volume: 43, Issue:3

    Topics: alpha-Mannosidase; beta-Galactosidase; beta-Glucosidase; Cell Line; Gaucher Disease; Glucosylceramid

1996
The increased sensitivity of neurons with elevated glucocerebroside to neurotoxic agents can be reversed by imiglucerase.
    Journal of inherited metabolic disease, 2000, Volume: 23, Issue:2

    Topics: Animals; Antimetabolites; Carboxylic Acids; Cell Death; Cells, Cultured; Enzyme Inhibitors; Fumonisi

2000
The Gaucher mouse: differential action of conduritol B epoxide and reversibility of its effects.
    Journal of neurochemistry, 1978, Volume: 30, Issue:5

    Topics: Acetylglucosaminidase; Animals; beta-Glucosidase; Brain; Cerebrosides; Gaucher Disease; Humans; Inos

1978
The Gaucher mouse: additional biochemical alterations.
    Journal of neurochemistry, 1979, Volume: 32, Issue:3

    Topics: Acid Phosphatase; Animals; Brain; Cerebrosides; Disease Models, Animal; Gangliosides; Gaucher Diseas

1979
Gaucher disease in mice induced by conduritol-B-epoxide: morphologic features.
    Archives of pathology & laboratory medicine, 1977, Volume: 101, Issue:5

    Topics: Animals; Cytoplasm; Female; Gaucher Disease; Humans; Inositol; Liver; Male; Mice; Neurons

1977
The Gaucher mouse.
    Biochemical and biophysical research communications, 1975, Nov-03, Volume: 67, Issue:1

    Topics: Animals; Brain; Ceramides; Disease Models, Animal; Gaucher Disease; Glucosidases; Glycoside Hydrolas

1975
Use of 4-heptylumbelliferyl-beta-D-glucoside to identify Gaucher's disease heterozygotes.
    Clinica chimica acta; international journal of clinical chemistry, 1989, Oct-16, Volume: 184, Issue:3

    Topics: beta-Glucosidase; Brain; Gaucher Disease; Genetic Carrier Screening; Glucosylceramidase; Humans; Hyd

1989
Deficient activity of glucocerebrosidase in urine from patients with type 1 Gaucher disease.
    Clinica chimica acta; international journal of clinical chemistry, 1986, Jul-30, Volume: 158, Issue:2

    Topics: Adolescent; Adult; beta-N-Acetylhexosaminidases; Child; Female; Gaucher Disease; Glucosidases; Gluco

1986
beta-Glucosidase inhibition in murine peritoneal macrophages by conduritol-B-epoxide: an in vitro model of the Gaucher cell.
    Biochimica et biophysica acta, 1986, Jun-11, Volume: 877, Issue:1

    Topics: Animals; beta-Glucosidase; Cells, Cultured; Dose-Response Relationship, Drug; Gaucher Disease; Gluco

1986
Human acid beta-glucosidase. Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes.
    The Journal of biological chemistry, 1986, Jun-25, Volume: 261, Issue:18

    Topics: beta-Glucosidase; Gaucher Disease; Glucosidases; Humans; Immunoglobulin G; Inositol; Kinetics; Mathe

1986
Heterogeneity in human acid beta-glucosidase revealed by cellulose-acetate electrophoresis.
    Biochimica et biophysica acta, 1988, May-12, Volume: 965, Issue:2-3

    Topics: beta-Glucosidase; Electrophoresis; Electrophoresis, Cellulose Acetate; Female; Fibroblasts; Gaucher

1988
Gaucher-like changes in human blood-derived macrophages induced by beta-glucocerebrosidase inhibition.
    The Journal of laboratory and clinical medicine, 1988, Volume: 111, Issue:4

    Topics: Blood Cells; Gaucher Disease; Glucosidases; Glucosylceramidase; Humans; Inositol; Macrophages; Micro

1988
Macrophages exposed in vitro to conduritol B epoxide resemble Gaucher cells.
    Experimental and molecular pathology, 1988, Volume: 48, Issue:3

    Topics: Animals; Gaucher Disease; Glucosidases; Glucosylceramidase; Glucosylceramides; Inositol; Lysosomes;

1988
Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site.
    Proceedings of the National Academy of Sciences of the United States of America, 1986, Volume: 83, Issue:6

    Topics: Amino Acid Sequence; Base Sequence; Binding Sites; DNA; Gaucher Disease; Glucosidases; Glucosylceram

1986
Characterization of the activation of rat liver beta-glucosidase by sialosylgangliotetraosylceramide.
    The Journal of biological chemistry, 1985, Oct-25, Volume: 260, Issue:24

    Topics: Animals; beta-Glucosidase; Chemical Phenomena; Chemistry, Physical; Dose-Response Relationship, Drug

1985
Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine.
    American journal of human genetics, 1985, Volume: 37, Issue:3

    Topics: Adolescent; Adult; Binding Sites; Cells, Cultured; Child; Child, Preschool; Female; Fibroblasts; Gau

1985