Page last updated: 2024-08-22

acetylglucosamine and Tay-Sachs Disease

acetylglucosamine has been researched along with Tay-Sachs Disease in 12 studies

Research

Studies (12)

TimeframeStudies, this research(%)All Research%
pre-19905 (41.67)18.7374
1990's3 (25.00)18.2507
2000's2 (16.67)29.6817
2010's1 (8.33)24.3611
2020's1 (8.33)2.80

Authors

AuthorsStudies
Almanasra, A; Havranek, B; Islam, SM1
Huang, Z; Song, Z; Zhang, R; Zhou, J1
Cherney, MM; James, MN; Lemieux, MJ; Mahuran, DJ; Mark, BL; Withers, SG1
Guetta, E; Peleg, L1
Hirabayashi, Y; Li, SC; Li, YT1
Fuchs, W; Kaback, MM; Kresse, H; Navon, R1
Fuchs, W; Gilberg, W; Glössl, J; Holtfrerich, D; Kresse, H1
Jendoubi, M; Lacorazza, HD1
Goldman, B; Peleg, L1
Ben-Yoseph, Y; Nadler, HL; Reid, JE; Shapiro, B1
Bobrow, M; Ellis, IH; Fensom, AH; Landels, EC1
Charrow, J; Inui, K; Wenger, DA1

Reviews

1 review(s) available for acetylglucosamine and Tay-Sachs Disease

ArticleYear
Enzymatic properties of β-N-acetylglucosaminidases.
    Applied microbiology and biotechnology, 2018, Volume: 102, Issue:1

    Topics: Acetylglucosamine; Acetylglucosaminidase; Amino Acid Sequence; Chitin; Chitinases; Cloning, Molecular; Enzyme Stability; Ethanol; Humans; Hydrogen-Ion Concentration; Hydrolysis; Kinetics; Phylogeny; Substrate Specificity; Tay-Sachs Disease; Temperature

2018

Other Studies

11 other study(ies) available for acetylglucosamine and Tay-Sachs Disease

ArticleYear
In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize β-hexosaminidase A causing Tay-Sachs disease.
    Proteins, 2021, Volume: 89, Issue:11

    Topics: Acetylglucosamine; beta-Hexosaminidase alpha Chain; Binding Sites; Central Nervous System; G(M2) Ganglioside; Gene Expression; Humans; Hydrogen Bonding; Molecular Dynamics Simulation; Neurons; Peripheral Nervous System; Point Mutation; Polymorphism, Single Nucleotide; Protein Binding; Protein Conformation, alpha-Helical; Protein Conformation, beta-Strand; Protein Interaction Domains and Motifs; Tay-Sachs Disease; Thermodynamics; Thiazoles

2021
Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.
    Journal of molecular biology, 2006, Jun-16, Volume: 359, Issue:4

    Topics: Acetylglucosamine; Amino Acid Substitution; Arginine; Aspartic Acid; beta-N-Acetylhexosaminidases; Binding Sites; Crystallography, X-Ray; Dimerization; Gangliosidoses, GM2; Glycine; Glycosylation; Hexosaminidase A; Humans; Hydrolysis; Models, Molecular; Mutation; Protein Conformation; Protein Subunits; Tay-Sachs Disease; Thiazoles

2006
Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
    Methods in molecular biology (Clifton, N.J.), 2008, Volume: 444

    Topics: Acetylglucosamine; Amniocentesis; Amniotic Fluid; beta-Hexosaminidase alpha Chain; Biological Assay; Chorionic Villi; Chorionic Villi Sampling; DNA Mutational Analysis; Female; Fetal Blood; Gene Expression Regulation, Developmental; Genetic Testing; Humans; Hymecromone; Mutation; Polymerase Chain Reaction; Predictive Value of Tests; Pregnancy; Prenatal Diagnosis; Reproducibility of Results; Substrate Specificity; Tay-Sachs Disease; Time Factors

2008
Differentiation of two variants of type-AB GM2-gangliosidosis using chromogenic substrates.
    American journal of human genetics, 1983, Volume: 35, Issue:3

    Topics: Acetylglucosamine; beta-N-Acetylhexosaminidases; Brain; Child, Preschool; Chromogenic Compounds; G(M2) Ganglioside; Hexosaminidases; Humans; Tay-Sachs Disease

1983
Tay-Sachs disease: one-step assay of beta-N-acetylhexosaminidase in serum with a sulphated chromogenic substrate.
    Clinica chimica acta; international journal of clinical chemistry, 1983, Oct-14, Volume: 133, Issue:3

    Topics: Acetylglucosamine; Adolescent; Adult; Aged; beta-N-Acetylhexosaminidases; Child; Chromogenic Compounds; Heterozygote; Hexosaminidases; Hot Temperature; Humans; Hydrogen-Ion Concentration; Isoenzymes; Middle Aged; Tay-Sachs Disease

1983
Liberation of N-acetylglucosamine-6-sulfate by human beta-N-acetylhexosaminidase A.
    The Journal of biological chemistry, 1981, Dec-25, Volume: 256, Issue:24

    Topics: Acetylglucosamine; beta-N-Acetylhexosaminidases; Cells, Cultured; Fibroblasts; Glucosamine; Hexosaminidases; Humans; Kinetics; Mucopolysaccharidoses; Sandhoff Disease; Skin; Substrate Specificity; Sulfur Radioisotopes; Tay-Sachs Disease; Tritium

1981
In situ assessment of beta-hexosaminidase activity.
    BioTechniques, 1995, Volume: 19, Issue:3

    Topics: Acetylglucosamine; beta-N-Acetylhexosaminidases; Cells, Cultured; Fibroblasts; Glucuronates; Histocytochemistry; Humans; Hymecromone; Isoenzymes; Mutation; Naphthols; Sandhoff Disease; Spectrometry, Fluorescence; Tay-Sachs Disease

1995
Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B.
    European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies, 1994, Volume: 32, Issue:2

    Topics: Acetylglucosamine; beta-N-Acetylhexosaminidases; Chromatography, Ion Exchange; Enzyme Stability; Genetic Carrier Screening; Genetic Testing; Genotype; Hexosaminidase A; Hexosaminidase B; Hot Temperature; Humans; Hymecromone; Jews; Substrate Specificity; Tay-Sachs Disease

1994
Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate.
    American journal of human genetics, 1985, Volume: 37, Issue:4

    Topics: Acetylglucosamine; beta-N-Acetylhexosaminidases; Female; Genetic Carrier Screening; Hexosaminidase A; Hexosaminidase B; Humans; Pregnancy; Substrate Specificity; Tay-Sachs Disease

1985
Tay-Sachs disease heterozygote detection: use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates.
    Journal of medical genetics, 1991, Volume: 28, Issue:2

    Topics: Acetylglucosamine; Automation; beta-N-Acetylhexosaminidases; Cell Separation; Centrifugation; Female; Flow Cytometry; Genetic Carrier Screening; Genetic Testing; Glucosamine; Hexosaminidase A; Hot Temperature; Humans; Hymecromone; Leukocytes; Pregnancy; Prenatal Diagnosis; Tay-Sachs Disease

1991
Late onset GM2 gangliosidosis: an alpha-locus genetic compound with near normal hexosaminidase activity.
    Clinical genetics, 1985, Volume: 27, Issue:1

    Topics: Acetylglucosamine; Alleles; beta-N-Acetylhexosaminidases; Child, Preschool; Female; Glucosamine; Heterozygote; Hexosaminidase A; Hexosaminidases; Humans; Hymecromone; Mutation; Pedigree; Substrate Specificity; Tay-Sachs Disease

1985