Compounds > 1-deoxynojirimycin
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1-deoxynojirimycin and Adult GM1 Gangliosidosis

1-deoxynojirimycin has been researched along with Adult GM1 Gangliosidosis in 21 studies

Research

Studies (21)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's6 (28.57)29.6817
2010's12 (57.14)24.3611
2020's3 (14.29)2.80

Authors

AuthorsStudies
Ballhausen, D; Biela-Banaś, A; Burda, P; Caciotti, A; Charollais-Thoenig, J; Demotz, S; Front, S; Gallienne, E; Higaki, K; Martin, OR; Morrone, A1
Barril, X; Bellotto, M; Bergmann, TJ; Cubero, E; Delgado, A; Fregno, I; García-Collazo, AM; Molinari, M; Morales, S; Pérez-Carmona, N; Pons-Vizcarra, M; Ruano, A; Rudinskiy, M; Soldà, T1
Ardissone, A; Caciotti, A; Calamai, M; Casini, A; Deodato, F; Di Rocco, M; Fischetto, R; Fiumara, A; Guerrini, R; Mancardi, MM; Mangone, G; Marangi, A; Morrone, A; Parini, R; Pavone, FS; Procopio, E; Ricci, S; Salviati, A; Strisciuglio, P; Tonin, R1
Al Sorkhy, M; Al-Dirbashi, O; Al-Gazali, L; Al-Jasmi, F; Ali, BR; Ghattas, MA; Mohamed, FE1
Di Rocco, M; Favia, V; Fischetto, R; Gaeta, A; Giacomini, T; Giordano, P; Lassandro, G; Mancardi, MM; Morrone, A; Palladino, S; Palladino, V; Romano, A; Severino, M; Strisciuglio, P; Tripaldi, ME; Zampini, L1
Jarnes Utz, JR; Kim, S; King, K; Redtree, ES; Schema, L; Whitley, CB; Ziegler, R1
Caciotti, A; Deodato, F; Dionisi-Vici, C; Donati, MA; Morrone, A; Procopio, E; Rampazzo, A; Scarpa, M; Taurisano, R1
Higaki, K; Nanba, E; Ninomiya, H; Suzuki, Y1
Aguilar-Moncayo, M; Garcia Fernandez, JM; Higaki, K; Mena-Barragán, T; Nanba, E; Ohto, U; Ortiz Mellet, C; Shimizu, T; Suzuki, H; Suzuki, Y1
Fischer, R; Gonzalez Santana, A; Pabst, BM; Paschke, E; Schalli, M; Stütz, AE; Thonhofer, M; Tschernutter, M; Tysoe, C; Weber, P; Windischhofer, W; Withers, SG1
Fantur, K; Hofer, D; Pabst, BM; Paschke, E; Schitter, G; Steiner, AJ; Stütz, AE; Wrodnigg, TM1
Fröhlich, RF; Furneaux, RH; Mahuran, DJ; Saf, R; Stütz, AE; Tropak, MB; Wicki, J; Withers, SG; Wrodnigg, TM1
Ochi, T; Ohto, U; Satow, Y; Shimizu, T; Usui, K; Yuki, K1
Benedict, D; Buttner, J; Callahan, JW; Crushell, E; Mahuran, DJ; Martin, DR; Rigat, BA; Tropak, MB1
Aguilar-Moncayo, M; García Fernández, JM; García-Moreno, MI; Higaki, K; Hirano, Y; Mena-Barragán, T; Nanba, E; Ninomiya, H; Ohno, K; Ortiz Mellet, C; Sakakibara, Y; Suzuki, Y; Takai, T; Yu, L; Yura, K1
Butters, TD; d'Azzo, A; Dwek, RA; Elliot-Smith, E; Jeyakumar, M; Perry, VH; Platt, FM; Smith, DA; Thomas, R; van der Spoel, AC1
D'Azzo, A; El-Abbadi, MM; Hauser, EC; Kasperzyk, JL; Platt, FM; Seyfried, TN1
Alroy, J; d'Azzo, A; Kasperzyk, JL; Platt, FM; Seyfried, TN1
Brady, RO1
Butters, TD; d'Azzo, A; Dwek, RA; Elliot-Smith, E; Jeyakumar, M; Lloyd-Evans, E; Platt, FM; Smith, DA; Speak, AO; van der Spoel, AC1
Matsuda, J; Nanba, E; Ogawa, Y; Ohno, K; Oshima, A; Suzuki, Y; Taniguchi, M; Tominaga, L1

Reviews

1 review(s) available for 1-deoxynojirimycin and Adult GM1 Gangliosidosis

ArticleYear
Emerging strategies for the treatment of hereditary metabolic storage disorders.
    Rejuvenation research, 2006,Summer, Volume: 9, Issue:2

    Topics: 1-Deoxynojirimycin; Bone Marrow Transplantation; Enzyme Inhibitors; Fabry Disease; Gangliosidosis, GM1; Gaucher Disease; Genetic Therapy; Humans; Imino Sugars; Piperidines

2006

Trials

1 trial(s) available for 1-deoxynojirimycin and Adult GM1 Gangliosidosis

ArticleYear
Infantile gangliosidoses: Mapping a timeline of clinical changes.
    Molecular genetics and metabolism, 2017, Volume: 121, Issue:2

    Topics: 1-Deoxynojirimycin; Diet, Ketogenic; Disaccharidases; Female; Gangliosidoses; Gangliosidoses, GM2; Gangliosidosis, GM1; Glycoside Hydrolase Inhibitors; Humans; Infant; Male; Prospective Studies; Retrospective Studies

2017

Other Studies

19 other study(ies) available for 1-deoxynojirimycin and Adult GM1 Gangliosidosis

ArticleYear
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.
    European journal of medicinal chemistry, 2017, Jan-27, Volume: 126

    Topics: beta-Galactosidase; Drug Design; Enzyme Inhibitors; Fibroblasts; Gangliosidosis, GM1; Hot Temperature; Humans; Hydrogen-Ion Concentration; Imino Pyranoses; Lysosomes; Mucopolysaccharidosis IV; Mutation; Protein Denaturation

2017
Validation of a highly sensitive HaloTag-based assay to evaluate the potency of a novel class of allosteric β-Galactosidase correctors.
    PloS one, 2023, Volume: 18, Issue:11

    Topics: 1-Deoxynojirimycin; Animals; beta-Galactosidase; Dogs; Gangliosidosis, GM1; Lysosomal Storage Diseases

2023
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
    Scientific reports, 2019, 11-27, Volume: 9, Issue:1

    Topics: 1-Deoxynojirimycin; Biomarkers; Cells, Cultured; Disease Progression; Female; Fibroblasts; Flow Cytometry; G(M1) Ganglioside; Gangliosidosis, GM1; Glycoside Hydrolase Inhibitors; Humans; Lymphocytes; Male; Optical Imaging; Phenotype; Severity of Illness Index

2019
The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.
    Human genetics, 2020, Volume: 139, Issue:5

    Topics: 1-Deoxynojirimycin; beta-Galactosidase; Child, Preschool; Endoplasmic Reticulum Stress; Enzyme Inhibitors; Fibroblasts; Gangliosidosis, GM1; Humans; Lysosomes; Male; Molecular Chaperones; Mutant Proteins; Mutation; Protein Conformation; Protein Processing, Post-Translational; Protein Transport

2020
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.
    Molecular genetics & genomic medicine, 2020, Volume: 8, Issue:10

    Topics: 1-Deoxynojirimycin; Adolescent; Central Nervous System; Child; Child, Preschool; Drug Tolerance; Female; Gangliosidosis, GM1; Glucosyltransferases; Glycoside Hydrolase Inhibitors; Humans; Infant; Male

2020
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.
    Metabolic brain disease, 2017, Volume: 32, Issue:5

    Topics: 1-Deoxynojirimycin; Adult; Age Factors; beta-Galactosidase; Cognition Disorders; Disease Progression; Female; Follow-Up Studies; Gait; Gangliosidosis, GM1; Genotype; Glycoside Hydrolase Inhibitors; Humans; Language Disorders; Motor Skills; Movement Disorders; Neuropsychological Tests; Treatment Outcome; Walking; Young Adult

2017
Candidate molecules for chemical chaperone therapy of GM1-gangliosidosis.
    Future medicinal chemistry, 2013, Volume: 5, Issue:13

    Topics: 1-Deoxynojirimycin; Animals; beta-Galactosidase; Gangliosidosis, GM1; Genotype; Hexosamines; Humans; Lysosomes; Mutation; Small Molecule Libraries

2013
Structural basis of pharmacological chaperoning for human β-galactosidase.
    The Journal of biological chemistry, 2014, May-23, Volume: 289, Issue:21

    Topics: 1-Deoxynojirimycin; beta-Galactosidase; Catalytic Domain; Crystallography, X-Ray; Cyclohexenes; Enzyme Inhibitors; Enzyme Stability; Gangliosidosis, GM1; Hexosamines; Humans; Hydrogen Bonding; Hydrogen-Ion Concentration; Imino Sugars; Inositol; Kinetics; Models, Molecular; Molecular Structure; Mucopolysaccharidosis IV; Mutation; Protein Structure, Tertiary; Static Electricity; Structure-Activity Relationship

2014
Synthesis of C-5a-substituted derivatives of 4-epi-isofagomine: notable β-galactosidase inhibitors and activity promotors of GM1-gangliosidosis related human lysosomal β-galactosidase mutant R201C.
    Carbohydrate research, 2016, Jun-24, Volume: 429

    Topics: 1-Deoxynojirimycin; beta-Galactosidase; Gangliosidosis, GM1; Humans; Hydrophobic and Hydrophilic Interactions; Imino Pyranoses; Mucopolysaccharidosis IV

2016
DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts.
    Molecular genetics and metabolism, 2010, Volume: 100, Issue:3

    Topics: 1-Deoxynojirimycin; Alleles; beta-Galactosidase; Cell Line; Enzyme Inhibitors; Fibroblasts; Gangliosidosis, GM1; Humans; Molecular Chaperones; Mucopolysaccharidosis IV; Mutation

2010
1-Deoxy-D-galactonojirimycins with dansyl capped N-substituents as β-galactosidase inhibitors and potential probes for GM1 gangliosidosis affected cell lines.
    Carbohydrate research, 2011, Sep-06, Volume: 346, Issue:12

    Topics: 1-Deoxynojirimycin; Animals; Bacterial Proteins; beta-Galactosidase; Cats; Cell Line; Dansyl Compounds; Diamines; Enzyme Inhibitors; Fluorescent Dyes; Gangliosidosis, GM1; Humans; Imines; Kinetics; Lysosomes; Molecular Chaperones; Molecular Probes; Molecular Targeted Therapy; Phosphatidylcholines; Plant Proteins; Sugar Alcohols

2011
Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.
    The Journal of biological chemistry, 2012, Jan-13, Volume: 287, Issue:3

    Topics: 1-Deoxynojirimycin; beta-Galactosidase; Crystallography, X-Ray; G(M1) Ganglioside; Galactose; Gangliosidosis, GM1; Humans; Hydrolysis; Keratan Sulfate; Lysosomes; Models, Molecular; Mucopolysaccharidosis IV; Mutation; Protein Structure, Tertiary

2012
Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy.
    Molecular genetics and metabolism, 2012, Volume: 107, Issue:1-2

    Topics: 1-Deoxynojirimycin; Animals; beta-Galactosidase; Cats; Cell Line, Tumor; Disease Models, Animal; Enzyme Replacement Therapy; Fibroblasts; Gangliosidosis, GM1; Hot Temperature; Humans; Hydrogen-Ion Concentration; Mutant Proteins; Mutation; Protein Denaturation; Treatment Outcome

2012
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis.
    Molecular therapy : the journal of the American Society of Gene Therapy, 2013, Volume: 21, Issue:3

    Topics: 1-Deoxynojirimycin; Administration, Oral; Animals; beta-Galactosidase; Bridged Bicyclo Compounds, Heterocyclic; Cells, Cultured; Computational Biology; Disease Models, Animal; Enzyme Inhibitors; Fibroblasts; Gangliosidosis, GM1; Imino Sugars; Lysosomes; Mice; Mice, Inbred C57BL; Mice, Knockout; Molecular Chaperones; Mucopolysaccharidosis IV; Mutation; Recombination, Genetic

2013
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis.
    Brain : a journal of neurology, 2003, Volume: 126, Issue:Pt 4

    Topics: 1-Deoxynojirimycin; Animals; Antigens, CD; Apoptosis; Biomarkers; Blood-Brain Barrier; Cytokines; Enzyme Inhibitors; Gangliosidoses; Gangliosidoses, GM2; Gangliosidosis, GM1; Genes, MHC Class II; Immunohistochemistry; Inflammation; Mice; Sandhoff Disease; Tay-Sachs Disease

2003
N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis.
    Journal of neurochemistry, 2004, Volume: 89, Issue:3

    Topics: 1-Deoxynojirimycin; Animals; Animals, Newborn; Body Weight; Brain; Brain Chemistry; Chromatography, Thin Layer; Disease Models, Animal; Fetal Viability; Gangliosides; Gangliosidosis, GM1; Lipid Metabolism; Lipids; Mice; Mice, Inbred C57BL; Mice, Knockout; Treatment Outcome

2004
Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice.
    Journal of lipid research, 2005, Volume: 46, Issue:4

    Topics: 1-Deoxynojirimycin; Animals; Animals, Newborn; Brain Stem; Cerebellum; Chromatography, Thin Layer; Gangliosides; Gangliosidosis, GM1; Mice; Mice, Inbred C57BL; Mice, Knockout; Oxidation-Reduction; Sphingomyelins; Substrate Specificity

2005
Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis.
    Molecular genetics and metabolism, 2008, Volume: 94, Issue:2

    Topics: 1-Deoxynojirimycin; Animals; beta-Galactosidase; Brain; Disease Models, Animal; Enzyme Inhibitors; Feces; Gangliosidosis, GM1; Glucosyltransferases; Glycosphingolipids; Humans; Macrophage Activation; Mice; Mice, Knockout; Motor Activity; Protein Transport

2008
Galactonojirimycin derivatives restore mutant human beta-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse.
    Brain & development, 2001, Volume: 23, Issue:5

    Topics: 1-Deoxynojirimycin; Animals; beta-Galactosidase; Cells, Cultured; DNA, Complementary; Fibroblasts; Gangliosidosis, GM1; Humans; Mice; Mice, Knockout; Mucopolysaccharidosis IV; Mutation

2001