Triosephosphate isomerase deficiency: Consequences of an inherited mutation at mRNA, protein and metabolic levels

Biochemical Journal

Volumn 392, Issue 3, 2005, Pages 675-683

  Oláh, Judit ^a   Orosz, Ferenc ^a   Puskás, László G ^a   Hackler Jr , László ^a   Horányi, Margit ^b   Polgár, László ^a   Hollán, Susan ^b   Ovádi, Judit ^a  

^a INSTITUTE OF EXPERIMENTAL MEDICINE   (Hungary)

^b Department of Molecular Diagnostics and Genetics   (Hungary)

Author keywords

Enzyme deficiency; Glycolysis; Modelling; Neurodegeneration; Prolyl oligopeptidase; Triosephosphate isomerase

Indexed keywords

CELLS; COMPUTATIONAL METHODS; ENZYMES; METABOLISM; MUTAGENESIS; NEUROLOGY;

ENZYME DEFICIENCY; GLYCOLYSIS; NEURODEGENERATION; PROLYL OLIGOPEPTIDASE; TRIOSEPHOSPHATE ISOMERASE;

RNA;

DIHYDROXYACETONE PHOSPHATE; FRUCTOSE BISPHOSPHATASE; GLYCOLYTIC ENZYME; MESSENGER RNA; PROLYL ENDOPEPTIDASE; TRIOSEPHOSPHATE ISOMERASE;

ARTICLE; CELL MUTANT; COMPARATIVE STUDY; CONTROLLED STUDY; DEGENERATIVE DISEASE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROCYTE; FEMALE; GENE MUTATION; GLYCOLYSIS; HUMAN; HUMAN CELL; KINEMATICS; LYMPHOCYTE; MALE; MATHEMATICAL MODEL; METABOLITE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN FOLDING; STEADY STATE; TRIOSEPHOSPHATE ISOMERASE DEFICIENCY;

ALLELES; CATALYSIS; ERYTHROCYTES; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GLYCOLYSIS; HUMANS; HUNGARY; MALE; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; RNA, MESSENGER; TRIOSE-PHOSPHATE ISOMERASE;

EID: 29644434568     PISSN: 02646021     EISSN: None     Source Type: Journal    
DOI: 10.1042/BJ20050993     Document Type: Article

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