n-acetylneuraminic acid and Distal Myopathies

n-acetylneuraminic acid has been researched along with Distal Myopathies in 39 studies

Research

Studies (39)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	6 (15.38)	29.6817
2010's	18 (46.15)	24.3611
2020's	15 (38.46)	2.80

Authors

Authors	Studies
Crowe, KE; Heller, K; Martin, PT; Nishino, I; Noguchi, S; Rodino-Klapac, L; Zygmunt, DA	1
Anani, W; Andresen, F; Boeckelmann, D; Erlacher, M; Falet, H; Fels, S; Full, H; Glonnegger, H; Hoffmeister, KM; Lang, P; Lausch, E; Strahm, B; Zhu, J; Zieger, B	1
Bae, S; Cha, HJ; Choi, H; Choi, HJ; Jang, HK; Kim, J; Kim, KT; Kwon, EJ; Lee, HS; Lee, SY; Moon, SH; Park, JC; Park, S; Park, SJ; Park, SY	1
Awasthi, K; Bhattacharya, A; Bhattacharya, S	1
Arya, R; Devi, SS; Oswalia, J; Ramalingam, S; Yadav, R	1
Nishino, I; Noguchi, S; Yoshioka, W	1
Morewood, J; Pertusati, F	1
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, W	1
Aoki, M; Asada, R; Hashizume, A; Izumi, R; Kato, M; Katsuno, M; Kuroda, H; Mori-Yoshimura, M; Nakamori, M; Nishino, I; Oya, Y; Suzuki, N; Takahashi, MP; Tateyama, M; Warita, H; Yamada, S; Yamaguchi, T; Yamashita, S	2
Aoki, M; Izumi, R; Suzuki, N	1
Choi, J; Go, H; Kim, L; Kim, MY; Park, DB; Park, E; Park, YE; Shin, JH; Sung, NJ	1
Bedrosian, CL	1
Becker-Cohen, M; Dell, A; Goss, V; Haslam, SM; Mitrani-Rosenbaum, S; Sela, I	1
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, S	1
Cho, A; Christine, M; Malicdan, V; Miyakawa, M; Nishino, I; Noguchi, S; Nonaka, I	1
Carrillo, N; Celeste, F; Ciccone, C; Cradock, J; Gahl, WA; Goldspiel, B; Huizing, M; Latham, LL; Malicdan, MC; McKew, JC; Terse, P; Wang, AQ; Xu, X; Yang, N; Yorke, S	1
Attarian, S; Béhin, A; Marion, S	1
González Coraspe, JA; Lochmüller, H; Nikolenko, N; Pogoryelova, O; Roos, A	1
Behin, A; Caraco, Y; Kakkis, E; Koutsoukos, T; Lai, A; Lau, H; Lochmüller, H; Mansbach, H; Mirabella, M; Mozaffar, T; Pogoryelova, O; Shah, J; Skrinar, A; Tarnopolsky, M; Tournev, I; Woods, C	1
Avigliano, M; Carbajo, R; Crutcher, P; Morozzi, C; Pertusati, F; Sandoval, L; Sedláková, J; Serpi, M; Thomas, S; Valles-Ayoub, Y	1
Ohno, K	1
Cho, A; Hayashi, YK; Malicdan, MC; Mine, T; Nishino, I; Noguchi, S; Nonaka, I; Yamamoto, T; Yonekawa, T	1
Mori-Yoshimura, M; Nishino, I	1
Béhin, A; Urtizberea, JA	1
Bosch-Morató, M; Guivernau, B; Iriondo, C; Muñoz, FJ; Olivé, M; Querfurth, H; Valls-Comamala, V; Vidal, N	1
Ahmed, R; Argov, Z; Caraco, Y; Kakkis, E; Koutsoukos, T; Lau, H; Martinisi, J; Pestronk, A; Shieh, PB; Skrinar, A	1
Cadaoas, J; Chan, YM; Jungles, S; Kakkis, E; Lee, P; Morris, G; Skrinar, A; Vellard, M	1
Malicdan, MC; Nishino, I; Noguchi, S	3
Broccolini, A; Gidaro, T; Mirabella, M; Morosetti, R	1
Noguchi, S	1
Goto, Y; Hayashi, YK; Malicdan, MC; Nishino, I; Noguchi, S; Nonaka, I; Tokutomi, T	1
Nishino, I; Noguchi, S	2
Hayashi, YK; Malicdan, MC; Murayama, K; Nishino, I; Noguchi, S; Nonaka, I	1
Hayashi, YK; Malicdan, MC; Nishino, I; Noguchi, S; Nonaka, I	2

Reviews

11 review(s) available for n-acetylneuraminic acid and Distal Myopathies

Article	Year
Recent advances in establishing a cure for GNE myopathy. Current opinion in neurology, 2022, 10-01, Volume: 35, Issue:5 Topics: Animals; Disease Models, Animal; Distal Myopathies; Genetic Therapy; Humans; Mice; Mutation; N-Acetylneuraminic Acid	2022
GNE myopathy: from clinics and genetics to pathology and research strategies. Orphanet journal of rare diseases, 2018, 05-02, Volume: 13, Issue:1 Topics: Animals; Distal Myopathies; Humans; Muscle Weakness; Muscle, Skeletal; N-Acetylneuraminic Acid; Research Design	2018
[Sialic Acid Replacement Therapy for Distal Myopathy with Rimmed Vacuoles]. Brain and nerve = Shinkei kenkyu no shinpo, 2015, Volume: 67, Issue:9 Topics: Animals; Disease Models, Animal; Distal Myopathies; Humans; Muscle, Skeletal; N-Acetylneuraminic Acid; Treatment Outcome; Vacuoles	2015
[GNE myopathy]. Medecine sciences : M/S, 2015, Volume: 31 Spec No 3 Topics: Adult; Age of Onset; Animals; Asian People; Bulgaria; Clinical Trials as Topic; Delayed-Action Preparations; Diagnosis, Differential; Disease Models, Animal; Distal Myopathies; Double-Blind Method; Genes, Recessive; Genetic Therapy; Humans; Israel; Japan; Jews; Liposomes; Models, Molecular; Multienzyme Complexes; Muscle, Skeletal; N-Acetylneuraminic Acid; Organ Specificity; Protein Conformation; Registries; United States; Vacuoles	2015
Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy? Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2007, Volume: 26, Issue:3 Topics: Animals; Disease Models, Animal; Distal Myopathies; Humans; Muscle, Skeletal; N-Acetylneuraminic Acid; Vacuoles	2007
Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy. Muscle & nerve, 2009, Volume: 40, Issue:3 Topics: Animals; Chondroitin Sulfate Proteoglycans; Distal Myopathies; Humans; Inclusion Bodies; Lectins, C-Type; Models, Biological; Muscle, Skeletal; N-Acetylneuraminic Acid; Nerve Tissue Proteins; Neurocan; Vacuoles	2009
[Development of therapy for distal myopathy with rimmed vacuoles]. Rinsho shinkeigaku = Clinical neurology, 2009, Volume: 49, Issue:11 Topics: Amyloid; Animals; Atrophy; Distal Myopathies; Humans; Mice; Multienzyme Complexes; Muscle, Skeletal; Mutation, Missense; N-Acetylneuraminic Acid; Vacuoles	2009
[Animal model of distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy and preclinical trial with sugar compounds]. Brain and nerve = Shinkei kenkyu no shinpo, 2010, Volume: 62, Issue:6 Topics: Administration, Oral; Animals; Disease Models, Animal; Distal Myopathies; Drug Evaluation, Preclinical; Hexosamines; Humans; Inclusion Bodies; Lactose; Mice; Mice, Transgenic; N-Acetylneuraminic Acid; Sialic Acids; Vacuoles	2010
[Sialic acid-deficient myopathy]. Seikagaku. The Journal of Japanese Biochemical Society, 2011, Volume: 83, Issue:4 Topics: Animals; Disease Models, Animal; Distal Myopathies; Humans; Mice; Mice, Knockout; Multienzyme Complexes; Mutation; N-Acetylneuraminic Acid	2011
[Sialic Acid supplementation therapy for distal myopathy with rimmed vacuoles]. Brain and nerve = Shinkei kenkyu no shinpo, 2012, Volume: 64, Issue:3 Topics: Adolescent; Adult; Animals; Distal Myopathies; Female; Humans; Male; Mice; N-Acetylneuraminic Acid; Orphan Drug Production; Translational Research, Biomedical	2012
Molecular pathomechanism of distal myopathy with rimmed vacuoles. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2005, Volume: 24, Issue:2 Topics: Distal Myopathies; Founder Effect; Humans; Multienzyme Complexes; Muscle Fibers, Skeletal; Muscle, Skeletal; N-Acetylneuraminic Acid; Vacuoles	2005

Trials

7 trial(s) available for n-acetylneuraminic acid and Distal Myopathies

Article	Year
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan. Journal of neuromuscular diseases, 2023, Volume: 10, Issue:4 Topics: Distal Myopathies; Humans; Japan; Muscles; N-Acetylneuraminic Acid	2023
Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan. Orphanet journal of rare diseases, 2023, 08-11, Volume: 18, Issue:1 Topics: Distal Myopathies; Double-Blind Method; Humans; Japan; Muscles; N-Acetylneuraminic Acid; Treatment Outcome	2023
Pharmacokinetics and clinical efficacy of 6'-sialyllactose in patients with GNE myopathy: Randomized pilot trial. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie, 2023, Volume: 168 Topics: Distal Myopathies; Humans; Muscle, Skeletal; Mutation; N-Acetylneuraminic Acid; Pilot Projects; Treatment Outcome	2023
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
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy. Molecular genetics and metabolism, 2017, Volume: 122, Issue:1-2 Topics: Administration, Oral; Adult; Aged; Alleles; Animals; Distal Myopathies; Dose-Response Relationship, Drug; Double-Blind Method; Female; Hexosamines; Homozygote; Humans; Male; Middle Aged; Muscles; Mutation; N-Acetylneuraminic Acid; Phosphotransferases (Alcohol Group Acceptor)	2017
A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy. Neurology, 2019, 04-30, Volume: 92, Issue:18 Topics: Adult; Delayed-Action Preparations; Distal Myopathies; Double-Blind Method; Female; Humans; Male; Middle Aged; Muscle Strength; Muscle, Skeletal; N-Acetylneuraminic Acid; Treatment Outcome; Young Adult	2019
Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study. Journal of neuromuscular diseases, 2016, 03-03, Volume: 3, Issue:1 Topics: Adolescent; Adult; Distal Myopathies; Double-Blind Method; Female; Humans; Male; Middle Aged; N-Acetylneuraminic Acid; Outcome Assessment, Health Care; Young Adult	2016

Other Studies

21 other study(ies) available for n-acetylneuraminic acid and Distal Myopathies

Article	Year
Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches. Journal of neuromuscular diseases, 2022, Volume: 9, Issue:1 Topics: Animals; Diet Therapy; Disease Models, Animal; Distal Myopathies; Genetic Therapy; Humans; Mice; Mice, Transgenic; Multienzyme Complexes; Muscle, Skeletal; N-Acetylneuraminic Acid	2022
Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect. Thrombosis and haemostasis, 2022, Volume: 122, Issue:7 Topics: Blood Platelets; Distal Myopathies; Female; Humans; Multienzyme Complexes; Mutation; N-Acetylneuraminic Acid; Thrombocytopenia	2022
Multiple isogenic GNE-myopathy modeling with mutation specific phenotypes from human pluripotent stem cells by base editors. Biomaterials, 2022, Volume: 282 Topics: Distal Myopathies; Humans; Mutation; N-Acetylneuraminic Acid; Phenotype; Pluripotent Stem Cells	2022
Tissue-specific isoform expression of GNE gene in human tissues. Journal of muscle research and cell motility, 2022, Volume: 43, Issue:2 Topics: Distal Myopathies; Humans; Muscle, Skeletal; Mutation; N-Acetylneuraminic Acid; Protein Isoforms	2022
Role of HSP70 chaperone in protein aggregate phenomenon of GNE mutant cells: Therapeutic lead for GNE Myopathy. The international journal of biochemistry & cell biology, 2022, Volume: 149 Topics: Adaptor Proteins, Signal Transducing; Apoptosis Regulatory Proteins; Distal Myopathies; Humans; Molecular Chaperones; Muscle, Skeletal; Mutation; N-Acetylneuraminic Acid; Phenotype; Protein Aggregates	2022
Synthesis of 2-Acetamido-1,3,4-Tri-O-Acetyl-2-Deoxy-D-Mannopyranose -6-Phosphate Prodrugs as Potential Therapeutic Agents. Current protocols, 2022, Volume: 2, Issue:8 Topics: Distal Myopathies; Humans; Mannose; N-Acetylneuraminic Acid; Phosphates; Prodrugs	2022
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
[Efficacy of Aceneuramic Acid for Distal Myopathy with Rimmed Vacuoles]. Brain and nerve = Shinkei kenkyu no shinpo, 2023, Volume: 75, Issue:10 Topics: Animals; Distal Myopathies; Humans; Mice; Muscle, Skeletal; N-Acetylneuraminic Acid; Vacuoles	2023
Clinical trial data available for UX001, aceneuramic acid extended-release. Journal of the neurological sciences, 2020, 04-15, Volume: 411 Topics: Carbohydrate Epimerases; Distal Myopathies; Humans; N-Acetylneuraminic Acid	2020
The glycomic sialylation profile of GNE Myopathy muscle cells does not point to consistent hyposialylation of individual glycoconjugates. Neuromuscular disorders : NMD, 2020, Volume: 30, Issue:8 Topics: Adult; Distal Myopathies; Female; Glycoconjugates; Glycomics; Humans; Male; Middle Aged; Multienzyme Complexes; Muscle Cells; Muscle, Skeletal; Mutation; N-Acetylneuraminic Acid; Phenotype	2020
Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy. Human molecular genetics, 2017, 08-15, Volume: 26, Issue:16 Topics: Acetylcysteine; Animals; Disease Models, Animal; Distal Myopathies; Humans; Mice; Mice, Knockout; Multienzyme Complexes; Muscle Proteins; Muscle, Skeletal; Muscular Atrophy; N-Acetylneuraminic Acid; Oxidative Stress; Reactive Oxygen Species	2017
[GNE myopathy: proven failure of sialic acid supplementation… what's next?] Medecine sciences : M/S, 2017, Volume: 33 Hors série n°1 Topics: Animals; Clinical Trials, Phase II as Topic; Disease Models, Animal; Distal Myopathies; Drug Evaluation, Preclinical; Humans; Mice; Mice, Transgenic; N-Acetylneuraminic Acid; Protein Processing, Post-Translational; Research Design; Treatment Failure	2017
Targeting GNE Myopathy: A Dual Prodrug Approach for the Delivery of Journal of medicinal chemistry, 2019, 09-12, Volume: 62, Issue:17 Topics: Animals; Caco-2 Cells; Cell Survival; Cells, Cultured; CHO Cells; Cricetulus; Distal Myopathies; Dose-Response Relationship, Drug; Drug Delivery Systems; Hexosamines; Humans; Molecular Structure; N-Acetylneuraminic Acid; Phosphotransferases (Alcohol Group Acceptor); Prodrugs; Structure-Activity Relationship; Sugar Phosphates	2019
Mutation analysis of a large cohort of GNE myopathy reveals a diverse array of GNE mutations affecting sialic acid biosynthesis. Journal of neurology, neurosurgery, and psychiatry, 2014, Volume: 85, Issue:8 Topics: Carbohydrate Epimerases; Distal Myopathies; DNA Mutational Analysis; Humans; Mutation; N-Acetylneuraminic Acid	2014
Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice. Brain : a journal of neurology, 2014, Volume: 137, Issue:Pt 10 Topics: Aging; Amyloid beta-Peptides; Animals; Body Weight; Cells, Cultured; Creatine Kinase; Disease Models, Animal; Distal Myopathies; Enzyme-Linked Immunosorbent Assay; Hexosamines; Lactose; Mice; Muscle Contraction; Muscle, Skeletal; Mutation; Myoblasts; N-Acetylneuraminic Acid; Peptide Fragments; Phenotype	2014
Increased amyloid β-peptide uptake in skeletal muscle is induced by hyposialylation and may account for apoptosis in GNE myopathy. Oncotarget, 2016, Mar-22, Volume: 7, Issue:12 Topics: Adult; Amyloid beta-Peptides; Apoptosis; Case-Control Studies; Cells, Cultured; Distal Myopathies; Female; Humans; Male; Muscle Fibers, Skeletal; Muscle, Skeletal; Myoblasts; N-Acetylneuraminic Acid	2016
Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model. PloS one, 2017, Volume: 12, Issue:3 Topics: Adolescent; Adult; Aged; Animals; Biomarkers; Biopsy; Chromatography, Liquid; Disease Models, Animal; Distal Myopathies; Female; Humans; Male; Mice; Middle Aged; Muscle, Skeletal; N-Acetylneuraminic Acid; Tandem Mass Spectrometry; Young Adult	2017
Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathy. The Journal of biological chemistry, 2012, Jan-20, Volume: 287, Issue:4 Topics: Animals; Disease Models, Animal; Distal Myopathies; Hexosamines; Humans; Mice; Mice, Transgenic; Muscle, Skeletal; N-Acetylneuraminic Acid	2012
[Sialic acid supplementation therapy for distal myopathy with rimmed vacuoles (GNE myopathy)]. Rinsho shinkeigaku = Clinical neurology, 2012, Volume: 52, Issue:11 Topics: Animals; Clinical Trials, Phase I as Topic; Dietary Supplements; Distal Myopathies; Humans; Mice; N-Acetylneuraminic Acid; Young Adult	2012
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Human molecular genetics, 2007, Jan-15, Volume: 16, Issue:2 Topics: Amyloid beta-Peptides; Analysis of Variance; Animals; Disease Models, Animal; Distal Myopathies; Humans; Mice; Mice, Knockout; Mice, Transgenic; Microscopy, Electron; Multienzyme Complexes; Muscle Fibers, Skeletal; Mutation, Missense; N-Acetylneuraminic Acid; Oligonucleotides; Vacuoles	2007
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Human molecular genetics, 2007, Nov-15, Volume: 16, Issue:22 Topics: Animals; Disease Models, Animal; Distal Myopathies; Fatigue; Female; Humans; Inclusion Bodies; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Multienzyme Complexes; Muscle Fibers, Skeletal; Muscle, Skeletal; Mutation; N-Acetylneuraminic Acid; Vacuoles	2007