n-acetylneuraminic acid and Muscular Diseases

n-acetylneuraminic acid has been researched along with Muscular Diseases in 10 studies

Research

Studies (10)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (20.00)29.6817
2010's6 (60.00)24.3611
2020's2 (20.00)2.80

Authors

AuthorsStudies
Hayashi, S; Higasa, K; Iida, A; Kurashige, T; Matsuda, F; Mori-Yoshimura, M; Nakamura, H; Nishino, I; Noguchi, S; Ogawa, M; Okada, Y; Okubo, M; Oya, Y; Sekijima, M; Sonehara, K; Yamamoto, K; Yoshioka, W1
Bayman, L; Berry, SM; Bradley, K; Carrillo, N; Ciccone, C; Class, B; Coffey, CS; Driscoll, C; Gahl, WA; Heiss, JD; Huizing, M; Jodarski, C; Joe, G; Leoyklang, P; Liu, CY; Malicdan, MC; Parks, R; Perreault, J; Quintana, M; Shrader, JA; Slota, C; Van Wart, S1
Abu Bakar, N; Brand-Arzamendi, K; Da Silva, A; de Brouwer, A; Drögemöller, B; El-Rass, S; Engelke, U; Hoskings, M; Huijben, K; Karbassi, F; Lefeber, DJ; Lehman, AM; Moreland, J; Ng, R; Pan, X; Philip, AM; Pshezhetsky, AV; Rakic, B; Ross, CJ; Selby, K; Tarailo-Graovac, M; Vallance, H; van Karnebeek, CD; van Scherpenzeel, M; Wasserman, WW; Wen, XY; Wevers, RA; Willems, A; Ye, XC; Yun, J; Zijlstra, F1
Alonzi, DS; Blériot, Y; Butters, TD; Dorward, H; Gahl, WA; Huizing, M; Kukushkin, NV; Le Poëc-Celic, E; Leoyklang, P; Patzel, KA; Sollogoub, M; Xu, B; Yardeni, T; Zhang, Y1
Arya, R; Grover, S1
Carrillo-Carrasco, N; Celeste, F; Ciccone, C; Gahl, WA; He, M; Huizing, M; Jiang, R; Leoyklang, P; Li, X; Malicdan, MC; Yardeni, T1
Hayashi, YK; Malicdan, MC; Nishino, I; Noguchi, S; Nonaka, I1
Huizing, M; Kurochkina, N; Yardeni, T1
Nishino, I1
Holland, P; Karpati, G1

Reviews

1 review(s) available for n-acetylneuraminic acid and Muscular Diseases

ArticleYear
Sweetening the pot in muscle: genetic defects of protein glycosylation causing muscle disease.
    Neurology, 2002, Dec-10, Volume: 59, Issue:11

    Topics: Animals; Glycoproteins; Glycosylation; Humans; Mice; Muscle Proteins; Muscle, Skeletal; Muscular Diseases; Mutation; N-Acetylneuraminic Acid

2002

Trials

1 trial(s) available for n-acetylneuraminic acid and Muscular Diseases

ArticleYear
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study.
    Genetics in medicine : official journal of the American College of Medical Genetics, 2021, Volume: 23, Issue:11

    Topics: Adult; Distal Myopathies; Hexosamines; Humans; Muscular Diseases; N-Acetylneuraminic Acid

2021

Other Studies

8 other study(ies) available for n-acetylneuraminic acid and Muscular Diseases

ArticleYear
Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy.
    Scientific reports, 2022, 12-16, Volume: 12, Issue:1

    Topics: Distal Myopathies; Humans; Multienzyme Complexes; Muscle, Skeletal; Muscular Diseases; Mutation; N-Acetylneuraminic Acid

2022
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.
    JCI insight, 2018, 12-20, Volume: 3, Issue:24

    Topics: Adult; Animals; Disease Models, Animal; Edema, Cardiac; Gene Expression Regulation, Developmental; Gene Knockdown Techniques; Genetic Diseases, Inborn; HEK293 Cells; Hexosamines; Humans; Male; Muscle, Skeletal; Muscular Diseases; Mutation; N-Acetylneuraminic Acid; Oxo-Acid-Lyases; Sialic Acid Storage Disease; Young Adult; Zebrafish

2018
Non-specific accumulation of glycosphingolipids in GNE myopathy.
    Journal of inherited metabolic disease, 2014, Volume: 37, Issue:2

    Topics: Animals; Case-Control Studies; Cells, Cultured; Female; Fibroblasts; Glycosphingolipids; Hexosamines; Humans; Mice; Mice, Inbred C57BL; Multienzyme Complexes; Muscles; Muscular Diseases; Mutation; N-Acetylneuraminic Acid

2014
Role of UDP-N-acetylglucosamine2-epimerase/N-acetylmannosamine kinase (GNE) in β1-integrin-mediated cell adhesion.
    Molecular neurobiology, 2014, Volume: 50, Issue:2

    Topics: Carbohydrate Epimerases; Cell Adhesion; Cell Membrane; Cells, Cultured; HEK293 Cells; Humans; Integrin beta1; Muscular Diseases; Mutation; N-Acetylneuraminic Acid

2014
Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.
    Biomarkers in medicine, 2014, Volume: 8, Issue:5

    Topics: Antigens, Tumor-Associated, Carbohydrate; Biomarkers; Humans; Lectins; Multienzyme Complexes; Muscular Diseases; N-Acetylneuraminic Acid; Neural Cell Adhesion Molecules; Polysaccharides

2014
Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.
    Nature medicine, 2009, Volume: 15, Issue:6

    Topics: Animals; Disease Models, Animal; Disease Susceptibility; Dose-Response Relationship, Drug; Mice; Muscular Diseases; N-Acetylneuraminic Acid; Phenotype

2009
Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.
    Glycobiology, 2010, Volume: 20, Issue:3

    Topics: Amino Acid Sequence; Humans; Models, Molecular; Molecular Sequence Data; Multienzyme Complexes; Muscular Diseases; Mutation; N-Acetylneuraminic Acid; Protein Conformation; Sialic Acid Storage Disease

2010
[Elucidation of the pathomechanism for autophagic vacuolar myopathy and development of a therapy].
    Rinsho shinkeigaku = Clinical neurology, 2010, Volume: 50, Issue:11

    Topics: Animals; Glycogen Storage Disease Type IIb; Humans; Lysosomal Storage Diseases; Lysosomes; Mice; Muscular Diseases; Mutation; N-Acetylneuraminic Acid; Vacuolar Proton-Translocating ATPases; Vacuoles

2010