arginine and Glycogenosis

arginine has been researched along with Glycogenosis in 8 studies

Research

Studies (8)

TimeframeStudies, this research(%)All Research%
pre-19903 (37.50)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's4 (50.00)24.3611
2020's1 (12.50)2.80

Authors

AuthorsStudies
Beamer, LJ; Daghlas, BA; Hansen, RP; Jakeman, DL; Mason, KN; Stiers, KM; Zhu, JS1
Bahuau, M; Boisson, B; Casanova, JL; de Lonlay, P; Habarou, F; Hamel, Y; Mamoune, A; Nguyen Morel, MA; Nonnenmacher, L; Nusbaum, P; Ottolenghi, C; Pelosi, M; Piraud, M; Romero, N; Serre, V; Vamecq, J; Vergnaud, S; Viou, MT1
Beamer, LJ; Graham, AC; Kain, BN; Stiers, KM2
Dingerdissen, H; Karagiannis, K; Mazumder, R; Motwani, M; Simonyan, V1
Donnell, GN; Fine, RN; Frasier, SD1
Colwell, JA; Wilber, JF1
Edgar, PJ; Fujimoto, WY; Greene, ML; Howell, RR; Lockwood, DH; Merimee, TJ; Seegmiller, JE1

Other Studies

8 other study(ies) available for arginine and Glycogenosis

ArticleYear
A missense variant remote from the active site impairs stability of human phosphoglucomutase 1.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:4

    Topics: Arginine; Binding Sites; Catalysis; Catalytic Domain; Crystallography, X-Ray; Glucose; Glycogen Storage Disease; Humans; Mutation, Missense; Phosphoglucomutase; Protein Conformation; Protein Folding

2020
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.
    PLoS genetics, 2014, Volume: 10, Issue:11

    Topics: Anemia, Hemolytic; Arginine; Dexamethasone; Erythrocytes; Female; Fever; Fructose-Bisphosphate Aldolase; Glycogen Storage Disease; Glycolysis; Humans; Male; Muscle, Skeletal; Myoblasts; Pedigree; Protein Conformation; Rhabdomyolysis

2014
Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 Deficiency.
    Journal of molecular biology, 2016, Apr-24, Volume: 428, Issue:8

    Topics: Arginine; Crystallography, X-Ray; Cytoplasm; Glycine; Glycogen Storage Disease; Humans; Models, Molecular; Mutation; Mutation, Missense; Peptides; Phosphoglucomutase; Protein Structure, Secondary; Protein Structure, Tertiary; X-Ray Diffraction

2016
Asp263 missense variants perturb the active site of human phosphoglucomutase 1.
    The FEBS journal, 2017, Volume: 284, Issue:6

    Topics: Arginine; Asparagine; Binding Sites; Catalysis; Catalytic Domain; Crystallography, X-Ray; Glucose; Glycogen Storage Disease; Humans; Kinetics; Mutation, Missense; Phosphoglucomutase; Protein Binding; Protein Conformation

2017
Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins.
    The FEBS journal, 2013, Volume: 280, Issue:6

    Topics: Abnormalities, Multiple; Amino Acid Substitution; Arginine; Aspartic Acid; Carbohydrate Metabolism; Catalytic Domain; Cluster Analysis; Enzyme Activation; Genetic Variation; Genome, Human; Glycogen Storage Disease; Hearing Loss; Histidine; Humans; Lacrimal Apparatus Diseases; Metabolomics; Molecular Sequence Annotation; Phenylalanine; Polymorphism, Single Nucleotide; Proteome; Proteomics; Structure-Activity Relationship; Syndactyly; Tooth Abnormalities; Tyrosine

2013
Growth in glycogen-storage disease type 1. Evaluation of endocrine function.
    American journal of diseases of children (1960), 1969, Volume: 117, Issue:2

    Topics: Adolescent; Adult; Arginine; Birth Weight; Blood Glucose; Estrogens; Fatty Acids, Nonesterified; Female; Glucose Tolerance Test; Glucosephosphate Dehydrogenase; Glycogen Storage Disease; Gonadotropins; Growth; Growth Hormone; Humans; Insulin; Male; Metyrapone; Sex Factors; Thyroid Function Tests

1969
Studies of insulin and growth hormone secretion in a subject with hepatoma and gypoglycemia.
    Diabetes, 1971, Volume: 20, Issue:9

    Topics: Adipose Tissue; Adult; Animals; Arginine; Blood Glucose; Carcinoma, Hepatocellular; Dexamethasone; Fatty Acids, Nonesterified; Glucagon; Gluconeogenesis; Glucose; Glucose Tolerance Test; Glycogen Storage Disease; Growth Hormone; Humans; Hypoglycemia; Insulin; Insulin Secretion; Lactates; Liver Neoplasms; Male; Muscles; Phentolamine; Phosphates; Rats; Tolbutamide

1971
Insulin secretion in type I glycogen storage disease.
    Diabetes, 1969, Volume: 18, Issue:11

    Topics: Adolescent; Adult; Arginine; Blood Glucose; Glucose Tolerance Test; Glycogen Storage Disease; Glycogen Storage Disease Type I; Humans; Hypoglycemia; Insulin; Insulin Secretion; Middle Aged

1969