Page last updated: 2024-10-18

glycine and Genetic Diseases

glycine has been researched along with Genetic Diseases in 7 studies

Research Excerpts

ExcerptRelevanceReference
"AGT deficiency causes primary hyperoxaluria type 1 (PH1), a rare autosomal recessive disorder, due to a marked increase in hepatic oxalate production."1.35Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation. ( Cellini, B; Lorenzetto, A; Montioli, R; Paiardini, A; Voltattorni, CB, 2009)

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's4 (57.14)29.6817
2010's3 (42.86)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Haas, D1
Gan-Schreier, H1
Langhans, CD1
Anninos, A1
Haege, G1
Burgard, P1
Schulze, A1
Hoffmann, GF1
Okun, JG1
Cellini, B1
Montioli, R1
Paiardini, A1
Lorenzetto, A1
Voltattorni, CB1
Carta, E1
Chung, SK2
James, VM2
Robinson, A1
Gill, JL1
Remy, N1
Vanbellinghen, JF1
Drew, CJ1
Cagdas, S1
Cameron, D1
Cowan, FM1
Del Toro, M1
Graham, GE1
Manzur, AY1
Masri, A1
Rivera, S1
Scalais, E1
Shiang, R1
Sinclair, K1
Stuart, CA1
Tijssen, MA1
Wise, G1
Zuberi, SM1
Harvey, K1
Pearce, BR1
Topf, M2
Thomas, RH2
Supplisson, S1
Rees, MI2
Harvey, RJ2
Giménez, C1
Pérez-Siles, G1
Martínez-Villarreal, J1
Arribas-González, E1
Jiménez, E1
Núñez, E1
de Juan-Sanz, J1
Fernández-Sánchez, E1
García-Tardón, N1
Ibáñez, I1
Romanelli, V1
Nevado, J1
Desviat, LR1
Aragón, C1
Zafra, F1
Lapunzina, P1
López-Corcuera, B1
Iida, K1
Teng, J1
Tada, T1
Saka, A1
Tamai, M1
Izumi-Nakaseko, H1
Adachi-Akahane, S1
Iida, H1
Byers, PH1
Legendre, P1

Reviews

2 reviews available for glycine and Genetic Diseases

ArticleYear
Folding defects in fibrillar collagens.
    Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 2001, Feb-28, Volume: 356, Issue:1406

    Topics: Amino Acid Substitution; Collagen; Genetic Diseases, Inborn; Glycine; Humans; Microfibrils; Mutation

2001
The glycinergic inhibitory synapse.
    Cellular and molecular life sciences : CMLS, 2001, Volume: 58, Issue:5-6

    Topics: Allosteric Regulation; Alternative Splicing; Amino Acid Transport Systems, Neutral; Animals; Brain;

2001

Trials

2 trials available for glycine and Genetic Diseases

ArticleYear
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
    The Journal of biological chemistry, 2012, Aug-17, Volume: 287, Issue:34

    Topics: Animals; DNA Mutational Analysis; Female; Genetic Diseases, Inborn; Glycine; Glycine Plasma Membrane

2012
A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.
    The Journal of biological chemistry, 2012, Aug-17, Volume: 287, Issue:34

    Topics: Amino Acid Substitution; Animals; Female; Genes, Dominant; Genetic Diseases, Inborn; Glycine; Glycin

2012

Other Studies

3 other studies available for glycine and Genetic Diseases

ArticleYear
Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF.
    Gene, 2014, Mar-15, Volume: 538, Issue:1

    Topics: Case-Control Studies; Child; Creatine; Creatinine; Female; Gas Chromatography-Mass Spectrometry; Gen

2014
Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation.
    The Journal of biological chemistry, 2009, Mar-27, Volume: 284, Issue:13

    Topics: Alleles; Amino Acid Substitution; Genetic Diseases, Inborn; Glycine; Glyoxylates; Humans; Hyperoxalu

2009
Essential, completely conserved glycine residue in the domain III S2-S3 linker of voltage-gated calcium channel alpha1 subunits in yeast and mammals.
    The Journal of biological chemistry, 2007, Aug-31, Volume: 282, Issue:35

    Topics: Amino Acid Substitution; Animals; Barium; Calcium Channels; Calcium Channels, L-Type; Genetic Diseas

2007