n-acetylneuraminic acid and Inclusion Body Myopathy, Sporadic

n-acetylneuraminic acid has been researched along with Inclusion Body Myopathy, Sporadic in 13 studies

Research

Studies (13)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's7 (53.85)29.6817
2010's6 (46.15)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Argov, Z; Bronstein, F; Caraco, Y; Esposito, A; Feinsod-Meiri, Y; Florence, JM; Fowler, E; Greenberg, MB; Kolodny, EH; Lau, HA; Malkus, EC; Mayhew, JE; Pestronk, A; Rebibo, O; Shieh, P; Siener, CS; Skrinar, AM1
Carbajo, R; Darvish, B; Darvish, D; Khokher, Z; Mozaffar, T; No, D; Pietruszka, M; Sandoval, L; Stein, B; Tarnopolsky, MA; Valles-Ayoub, Y1
Broccolini, A; Mirabella, M1
Huizing, M; Krasnewich, DM1
Bedell, C; Gahl, WA; Huizing, M; Jay, C; Kuhn, J; Maples, PB; Nemunaitis, G; Nemunaitis, J; Pappen, BO; Phadke, AP; Poling, J; Senzer, N; Templeton, NS; Tong, AW1
Carbajo, R; Darvish, B; Darvish, D; Esfandiarifard, S; Kakkis, E; Khokher, Z; No, D; Pietruszka, M; Sinai, P; Valles-Ayoub, Y1
Astiz-Martinez, A; Ciccone, C; Dorward, HM; Gahl, WA; Huizing, M; Jacobs, K; Leoyklang, P; Niethamer, TK; Yardeni, T; Zerfas, PM1
Dalakas, MC; Gahl, WA; Goldfarb, L; Huizing, M; Krasnewich, D; Mamali, I; Rakocevic, G; Shatunov, A; Sparks, SE1
Argov, Z; Eisenberg, I; Hinderlich, S; Horstkorte, R; Mantey, LR; Mitrani-Rosenbaum, S; Potikha, T; Reutter, W; Sadeh, M; Salama, I; Yarema, KJ1
Argov, Z; Ben-Bassat, H; Dabby, R; Eisenberg, I; Hinderlich, S; Krause, S; Lochmuller, H; Mitrani-Rosenbaum, S; Reutter, W; Sadeh, M; Salama, I; Shlomai, Z; Yarema, K1
Amsili, S; Argov, Z; Hinderlich, S; Horstkorte, R; Krause, S; Lochmüller, H; Mitrani-Rosenbaum, S; Wiendl, H1
Barratt, J; Feehally, J; Topham, P1
Broccolini, A; De Cristofaro, R; Gidaro, T; Gliubizzi, C; Mirabella, M; Morosetti, R; Ricci, E; Tonali, PA1

Reviews

3 review(s) available for n-acetylneuraminic acid and Inclusion Body Myopathy, Sporadic

ArticleYear
Hereditary inclusion-body myopathies.
    Biochimica et biophysica acta, 2015, Volume: 1852, Issue:4

    Topics: Animals; Contracture; Frontotemporal Dementia; Humans; Muscle Fibers, Skeletal; Muscular Dystrophies, Limb-Girdle; Mutation; Myosin Heavy Chains; Myositis, Inclusion Body; N-Acetylneuraminic Acid; Ophthalmoplegia; Osteitis Deformans; Protein Processing, Post-Translational

2015
Hereditary inclusion body myopathy: a decade of progress.
    Biochimica et biophysica acta, 2009, Volume: 1792, Issue:9

    Topics: Animals; Disease Models, Animal; Humans; Mice; Multienzyme Complexes; Muscle, Skeletal; Mutation, Missense; Myositis, Inclusion Body; N-Acetylneuraminic Acid

2009
A spoonful of sugar helps the proteinuria go down?
    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2008, Volume: 23, Issue:3

    Topics: Animals; Disease Models, Animal; Humans; Mice; Mice, Knockout; Mutation; Myositis, Inclusion Body; N-Acetylneuraminic Acid; Phosphotransferases (Alcohol Group Acceptor); Proteinuria; Species Specificity

2008

Other Studies

10 other study(ies) available for n-acetylneuraminic acid and Inclusion Body Myopathy, Sporadic

ArticleYear
Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy.
    Journal of clinical neuromuscular disease, 2017, Volume: 19, Issue:1

    Topics: Adolescent; Adult; Aged; Female; Humans; Lower Extremity; Male; Middle Aged; Motor Activity; Muscle Strength; Muscle Weakness; Muscle, Skeletal; Myositis, Inclusion Body; N-Acetylneuraminic Acid; Young Adult

2017
Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients.
    Genetic testing and molecular biomarkers, 2013, Volume: 17, Issue:5

    Topics: Adult; Codon, Nonsense; Female; Humans; Male; Multienzyme Complexes; Mutation; Mutation, Missense; Myositis, Inclusion Body; N-Acetylneuraminic Acid; Sequence Analysis, DNA

2013
Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy.
    The journal of gene medicine, 2010, Volume: 12, Issue:5

    Topics: Adolescent; Adult; Biopsy; Female; Genetic Therapy; Humans; Injections, Intramuscular; Liposomes; Multienzyme Complexes; Muscle Strength; Muscle, Skeletal; Myositis, Inclusion Body; N-Acetylneuraminic Acid; Recombinant Proteins; Young Adult

2010
Serum neural cell adhesion molecule is hyposialylated in hereditary inclusion body myopathy.
    Genetic testing and molecular biomarkers, 2012, Volume: 16, Issue:5

    Topics: Adult; Animals; Blotting, Western; Carbohydrate Epimerases; Disease Models, Animal; Humans; Mice; Middle Aged; Mutation; Myositis, Inclusion Body; N-Acetylneuraminic Acid; Neural Cell Adhesion Molecules; Young Adult

2012
Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.
    Molecular genetics and metabolism, 2012, Volume: 107, Issue:4

    Topics: Administration, Oral; Animals; Female; Humans; Kidney; Mice; Mice, Transgenic; Monosaccharides; Multienzyme Complexes; Muscles; Myositis, Inclusion Body; N-Acetylneuraminic Acid

2012
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.
    Molecular genetics and metabolism, 2004, Volume: 81, Issue:3

    Topics: Adult; Cytoskeletal Proteins; Dystroglycans; Extracellular Matrix Proteins; Female; Glycosylation; Humans; Laminin; Membrane Glycoproteins; Middle Aged; Multienzyme Complexes; Muscle, Skeletal; Mutation; Myositis, Inclusion Body; N-Acetylneuraminic Acid; Protein Binding

2004
The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy.
    FEBS letters, 2004, May-21, Volume: 566, Issue:1-3

    Topics: Amino Acid Substitution; Animals; B-Lymphocytes; Carbohydrate Epimerases; Cell Line; Cell Membrane; Cytosol; Escherichia coli Proteins; Flow Cytometry; Homozygote; Humans; Myositis, Inclusion Body; N-Acetylneuraminic Acid; Phosphotransferases (Alcohol Group Acceptor); Recombinant Proteins; Spodoptera; Tumor Cells, Cultured

2004
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.
    Biochemical and biophysical research communications, 2005, Mar-04, Volume: 328, Issue:1

    Topics: Cell Membrane; Cells, Cultured; Humans; Metabolism, Inborn Errors; Multienzyme Complexes; Mutation; Myoblasts; Myositis, Inclusion Body; N-Acetylneuraminic Acid

2005
Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells.
    Experimental cell research, 2005, Apr-01, Volume: 304, Issue:2

    Topics: Active Transport, Cell Nucleus; Animals; Antineoplastic Agents; Brefeldin A; Cell Compartmentation; Cell Nucleus; Cytoplasm; Glycoconjugates; Golgi Apparatus; HeLa Cells; Humans; Jurkat Cells; K562 Cells; Mice; Multienzyme Complexes; Muscle, Skeletal; Myoblasts; Myositis, Inclusion Body; N-Acetylneuraminic Acid; Neoplasms; Nocodazole; Pluripotent Stem Cells; Protein Synthesis Inhibitors; Protein Transport

2005
Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle.
    Journal of neurochemistry, 2008, Volume: 105, Issue:3

    Topics: Adult; Amyloid beta-Peptides; Cells, Cultured; Chromosome Disorders; Down-Regulation; Female; Genes, Recessive; Glycosylation; Humans; Male; Muscle Fibers, Skeletal; Muscle, Skeletal; Myositis, Inclusion Body; N-Acetylneuraminic Acid; Neprilysin; Neuraminidase

2008