Compounds > arginine

arginine and Pyruvate Dehydrogenase Complex Deficiency Disease

arginine has been researched along with Pyruvate Dehydrogenase Complex Deficiency Disease in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (60.00)18.2507
2000's2 (40.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Eusébio, F; Gaspar, A; João Silva, M; Pinheiro, A; Rivera, I; Tavares de Almeida, I1
Cartwright, P; Collins, F; Dahl, HH; Hoogenraad, N; Lithgow, T; Takakubo, F; Thorburn, DR1
Brown, GK; Brown, RM; Otero, LJ1
Korotchkina, LG; Patel, MS; Tripatara, A1
Jacobia, SJ; Korotchkina, LG; Patel, MS1

Other Studies

5 other study(ies) available for arginine and Pyruvate Dehydrogenase Complex Deficiency Disease

ArticleYear
Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.
    European journal of pediatrics, 2009, Volume: 168, Issue:1

    Topics: Arginine; Aspartic Acid; Blotting, Western; Child; DNA Mutational Analysis; Gene Expression; Humans; Male; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Pyruvate Dehydrogenase (Lipoamide); Pyruvate Dehydrogenase Complex Deficiency Disease

2009
An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.
    American journal of human genetics, 1995, Volume: 57, Issue:4

    Topics: Amino Acids; Arginine; Base Composition; Base Sequence; Genetic Linkage; Humans; Infant; Male; Mitochondria; Molecular Sequence Data; Mutation; Pedigree; Polymerase Chain Reaction; Proline; Protein Precursors; Pyruvate Dehydrogenase Complex; Pyruvate Dehydrogenase Complex Deficiency Disease; X Chromosome

1995
Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.
    Human mutation, 1998, Volume: 12, Issue:2

    Topics: Arginine; Blotting, Northern; Blotting, Western; Cell Line, Transformed; Clinical Enzyme Tests; Female; Fibroblasts; Humans; Immunohistochemistry; Infant, Newborn; Nucleotide Mapping; Point Mutation; Pyruvate Dehydrogenase (Lipoamide); Pyruvate Dehydrogenase Complex; Pyruvate Dehydrogenase Complex Deficiency Disease; Sequence Analysis, DNA; Transfection

1998
Characterization of point mutations in patients with pyruvate dehydrogenase deficiency: role of methionine-181, proline-188, and arginine-349 in the alpha subunit.
    Archives of biochemistry and biophysics, 1999, Jul-01, Volume: 367, Issue:1

    Topics: 2,6-Dichloroindophenol; Acetylation; Acetyltransferases; Amino Acid Substitution; Apoenzymes; Arginine; Binding Sites; Circular Dichroism; Dihydrolipoyllysine-Residue Acetyltransferase; Enzyme Stability; Humans; Kinetics; Methionine; Point Mutation; Proline; Protein Structure, Secondary; Pyruvate Dehydrogenase Complex; Pyruvate Dehydrogenase Complex Deficiency Disease; Pyruvic Acid; Recombinant Proteins; Thermodynamics; Thiamine Pyrophosphate

1999
Differential effects of two mutations at arginine-234 in the alpha subunit of human pyruvate dehydrogenase.
    Archives of biochemistry and biophysics, 2001, Nov-01, Volume: 395, Issue:1

    Topics: Amino Acid Substitution; Arginine; Binding Sites; Enzyme Activation; Enzyme Stability; Humans; Isoenzymes; Mutagenesis, Site-Directed; Phosphoric Monoester Hydrolases; Phosphorylation; Protein Kinases; Protein Serine-Threonine Kinases; Protein Subunits; Pyruvate Dehydrogenase (Lipoamide); Pyruvate Dehydrogenase Acetyl-Transferring Kinase; Pyruvate Dehydrogenase Complex Deficiency Disease; Temperature

2001