n-acetylneuraminic acid and Cherry Red Spot Myoclonus Syndrome

n-acetylneuraminic acid has been researched along with Cherry Red Spot Myoclonus Syndrome in 17 studies

Research

Studies (17)

TimeframeStudies, this research(%)All Research%
pre-19903 (17.65)18.7374
1990's1 (5.88)18.2507
2000's8 (47.06)29.6817
2010's3 (17.65)24.3611
2020's2 (11.76)2.80

Authors

AuthorsStudies
Bommer, GT; Frédérick, R; Kentache, T; Peracchi, A; Thabault, L; Van Schaftingen, E1
Hamaoka, Y; Hayasaka, O; Hokazono, Y; Honda, A; Ikeda, A; Komatsu, M; Kotani, T; Maeda, Y; Okada, K; Shiozaki, K; Takase, R1
Kamerling, JP; Schauer, R1
Linnartz-Gerlach, B; Neumann, H; Schuy, C; Shahraz, A; Tenner, AJ1
Bodnaruk, TD; Bunda, S; Hinek, A; Liu, K; Wang, Y1
Goldberg, MF1
Hirokawa, K; Kasuga, T; Kitagawa, M; Kobayashi, T; Kurata, M; Nakamura, A; Ohashi, K; Uchihara, T1
Hata, K; Miyagi, T; Moriya, S; Wada, T; Yamaguchi, K1
Strehle, EM1
Kotani, M; Sakuraba, H; Yamada, H1
Crook, MA; Gopaul, KP1
Barr, CC; Heroman, JW; Rychwalski, P1
Miyagi, T1
Sewell, AC1
Akagi, M; Kobayashi, T; Okamura-Oho, Y; Suzuki, Y; Yamanaka, T1
Ben-Yoseph, Y; Mitchell, DA; Pretzlaff, RK; Yager, RM1
Percy, AK1

Reviews

5 review(s) available for n-acetylneuraminic acid and Cherry Red Spot Myoclonus Syndrome

ArticleYear
Exploration of the Sialic Acid World.
    Advances in carbohydrate chemistry and biochemistry, 2018, Volume: 75

    Topics: Animals; Carbohydrate Conformation; Humans; Lysosomal Storage Diseases; Mucolipidoses; N-Acetylneuraminic Acid; Neoplasms; Sialic Acid Storage Disease

2018
[Regulation of cellular function by mammalian sialidase].
    Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 2003, Volume: 48, Issue:8 Suppl

    Topics: Animals; Cell Physiological Phenomena; Cloning, Molecular; Diabetes Mellitus; Humans; Mucolipidoses; N-Acetylneuraminic Acid; Neoplasms; Neuraminidase

2003
Sialic acid storage disease and related disorders.
    Genetic testing, 2003,Summer, Volume: 7, Issue:2

    Topics: Amino Acid Transport Systems, Neutral; Chromosomes, Human, Pair 6; Cystinosis; Female; Glycoproteins; Humans; Infant; Lysosomes; Male; Membrane Proteins; Membrane Transport Proteins; Mucolipidoses; N-Acetylneuraminic Acid; Organic Anion Transporters; Sialic Acid Storage Disease; Symporters

2003
The inborn errors of sialic acid metabolism and their laboratory investigation.
    Clinical laboratory, 2006, Volume: 52, Issue:3-4

    Topics: Chemistry, Clinical; Humans; Mass Screening; Mucolipidoses; N-Acetylneuraminic Acid; Prenatal Diagnosis; Sialic Acid Storage Disease

2006
[Physiological and pathological roles of mammalian sialidases].
    Seikagaku. The Journal of Japanese Biochemical Society, 2008, Volume: 80, Issue:1

    Topics: Animals; Apoptosis; Cell Differentiation; Cell Division; Diabetes Mellitus; Humans; Isoenzymes; Lysosomes; Mammals; Mucolipidoses; N-Acetylneuraminic Acid; Neoplasms; Neuraminidase; Signal Transduction

2008

Other Studies

12 other study(ies) available for n-acetylneuraminic acid and Cherry Red Spot Myoclonus Syndrome

ArticleYear
The putative Escherichia coli dehydrogenase YjhC metabolises two dehydrated forms of N-acetylneuraminate produced by some sialidases.
    Bioscience reports, 2020, 06-26, Volume: 40, Issue:6

    Topics: DNA-Binding Proteins; Escherichia coli; Escherichia coli Proteins; Kinetics; Membrane Transport Proteins; Mucolipidoses; N-Acetylneuraminic Acid; NAD; Oxidoreductases; Substrate Specificity

2020
Establishment and characterization of Neu1-knockout zebrafish and its abnormal clinical phenotypes.
    The Biochemical journal, 2020, 08-14, Volume: 477, Issue:15

    Topics: Animals; Animals, Genetically Modified; Body Weight; CRISPR-Cas Systems; Disease Models, Animal; Embryo, Nonmammalian; Female; Gene Expression Regulation, Developmental; Gene Knockout Techniques; Glycoproteins; HEK293 Cells; Humans; Hydrogen-Ion Concentration; Male; Mucolipidoses; N-Acetylneuraminic Acid; Neuraminidase; Osteogenesis; Phenotype; Zebrafish; Zebrafish Proteins

2020
Sialylation of neurites inhibits complement-mediated macrophage removal in a human macrophage-neuron Co-Culture System.
    Glia, 2016, Volume: 64, Issue:1

    Topics: CD11b Antigen; Coculture Techniques; Complement C1q; Humans; Induced Pluripotent Stem Cells; Macrophage-1 Antigen; Macrophages; Monocytes; Mucolipidoses; N-Acetylneuraminic Acid; Neural Stem Cells; Neurites; Neurogenesis; Neurons; Phagocytosis; Receptors, Complement 3b

2016
Neuraminidase-1, a subunit of the cell surface elastin receptor, desialylates and functionally inactivates adjacent receptors interacting with the mitogenic growth factors PDGF-BB and IGF-2.
    The American journal of pathology, 2008, Volume: 173, Issue:4

    Topics: Animals; Aorta; Becaplermin; Cell Membrane; Cell Proliferation; Cells, Cultured; Child, Preschool; Elastic Tissue; Elastin; Fibroblasts; Humans; Infant; Insulin-Like Growth Factor II; Mitogens; Mucolipidoses; Myocytes, Smooth Muscle; N-Acetylneuraminic Acid; Neuraminidase; Platelet-Derived Growth Factor; Protein Subunits; Proto-Oncogene Proteins c-sis; Receptor, IGF Type 1; Receptors, Cell Surface; Receptors, Platelet-Derived Growth Factor; Recombinant Proteins; Swine

2008
Macular cherry-red spot and corneal haze in sialidosis (mucolipidosis type 1).
    Archives of ophthalmology (Chicago, Ill. : 1960), 2008, Volume: 126, Issue:12

    Topics: Corneal Opacity; Humans; Macula Lutea; Mucolipidoses; N-Acetylneuraminic Acid; Neuraminidase; Retinal Diseases

2008
Sialidosis type I carrying V217M/G243R mutations in lysosomal sialidase: an autopsy study demonstrating terminal sialic acid in lysosomal lamellar inclusions and cerebellar dysplasia.
    Acta neuropathologica, 2010, Volume: 119, Issue:1

    Topics: Adult; Brain; Cerebellum; Fatal Outcome; Ganglia, Spinal; Humans; Inclusion Bodies; Lysosomes; Male; Mucolipidoses; N-Acetylneuraminic Acid; Neuraminidase; Neurons; Spinal Cord

2010
Cytochemical and biochemical detection of intracellularly accumulated sialyl glycoconjugates in sialidosis and galactosialidosis fibroblasts with Macckia amurensis.
    Clinica chimica acta; international journal of clinical chemistry, 2004, Volume: 344, Issue:1-2

    Topics: Blotting, Western; Cells, Cultured; Clinical Laboratory Techniques; Fibroblasts; Galactose; Glycoconjugates; Humans; Lysosomal Storage Diseases; Maackia; Mucolipidoses; N-Acetylneuraminic Acid; Plant Lectins; Staining and Labeling

2004
Cherry red spot in sialidosis (mucolipidosis type I).
    Archives of ophthalmology (Chicago, Ill. : 1960), 2008, Volume: 126, Issue:2

    Topics: Adolescent; Fibroblasts; Humans; Macula Lutea; Male; Mucolipidoses; N-Acetylneuraminic Acid; Neuraminidase; Retinal Diseases; Skin

2008
The simple detection of neuraminic acid-containing urinary oligosaccharides in patients with glycoprotein storage diseases.
    Journal of inherited metabolic disease, 1983, Volume: 6, Issue:4

    Topics: G(M1) Ganglioside; Gangliosidoses; Humans; Lactose Intolerance; Mucolipidoses; Mucopolysaccharidoses; N-Acetylneuraminic Acid; Neuraminidase; Oligosaccharides; Sialic Acids

1983
A simple enzymatic determination of urinary sialic acid--its significance in the diagnosis of disorders of sialic acid metabolism.
    Clinica chimica acta; international journal of clinical chemistry, 1984, Dec-29, Volume: 144, Issue:2-3

    Topics: Adult; Child; Child, Preschool; Creatinine; Humans; Infant; Infant, Newborn; L-Lactate Dehydrogenase; Metabolism, Inborn Errors; Mucolipidoses; N-Acetylneuraminic Acid; Neuraminidase; Oxo-Acid-Lyases; Sialic Acids; Spectrophotometry, Ultraviolet

1984
Stimulation of GM3 ganglioside sialidase activity by an activator protein in patients with mucolipidosis IV and controls.
    Enzyme, 1991, Volume: 45, Issue:1-2

    Topics: Chromatography, Thin Layer; Detergents; Enzyme Activation; Fibroblasts; Gangliosides; Humans; Liver; Mucolipidoses; N-Acetylneuraminic Acid; Neuraminidase; Sialic Acids; Skin

1991
The inherited neurodegenerative disorders of childhood: clinical assessment.
    Journal of child neurology, 1987, Volume: 2, Issue:2

    Topics: Adrenoleukodystrophy; Brain Diseases, Metabolic; Child; Electroencephalography; Genetic Carrier Screening; Humans; Metabolism, Inborn Errors; Mucolipidoses; N-Acetylneuraminic Acid; Nerve Degeneration; Nervous System Diseases; Neuraminidase; Neuronal Ceroid-Lipofuscinoses; Prognosis; Sialic Acids; Sphingolipidoses; Tomography, X-Ray Computed

1987