Compounds > proline

proline and Ataxia with Lactic Acidosis

proline has been researched along with Ataxia with Lactic Acidosis in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19901 (33.33)18.7374
1990's2 (66.67)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Cartwright, P; Collins, F; Dahl, HH; Hoogenraad, N; Lithgow, T; Takakubo, F; Thorburn, DR1
Korotchkina, LG; Patel, MS; Tripatara, A1
Blass, JP; Hansen, S; Haworth, JC; Perry, TL; Urquhart, N1

Other Studies

3 other study(ies) available for proline and Ataxia with Lactic Acidosis

ArticleYear
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
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
Lactic acidosis in three sibs due to defects in both pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase complexes.
    Pediatrics, 1976, Volume: 58, Issue:4

    Topics: Acidosis; Alanine; Carbohydrate Metabolism, Inborn Errors; Electron Transport Complex IV; Female; Glutamates; Humans; Infant; Infant, Newborn; Ketoglutarate Dehydrogenase Complex; Ketoglutaric Acids; Ketone Oxidoreductases; Lactates; Male; Proline; Pyruvate Decarboxylase; Pyruvate Dehydrogenase Complex Deficiency Disease; Pyruvates

1976