EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    1.2.1.25 | Acidosis |
9773790 |
Tissue-specific responses of branched-chain alpha-ketoacid dehydrogenase activity in metabolic acidosis. |
causal interaction
ongoing research
unassigned |
3
2
0 |
| 1.2.1.25 | Acidosis, Lactic |
10486093 |
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
3
1
0 |
| 1.2.1.25 | Acidosis, Lactic |
14635113 |
A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1. |
causal interaction
unassigned |
3
0 |
| 1.2.1.25 | Acidosis, Lactic |
14707515 |
Biochemical characterization of two mutants of human pyruvate dehydrogenase, F205L and T231A of the E1alpha subunit. |
causal interaction
unassigned |
3
0 |
| 1.2.1.25 | Acidosis, Lactic |
14729417 |
Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms. |
causal interaction
unassigned |
3
0 |
| 1.2.1.25 | Acidosis, Lactic |
17392036 |
Down-regulation of expression of rat pyruvate dehydrogenase E1alpha gene by self-complementary adeno-associated virus-mediated small interfering RNA delivery. |
causal interaction
diagnostic usage
unassigned |
4
4
0 |
| 1.2.1.25 | Arthritis, Rheumatoid |
7963542 |
Epitope mapping of the branched chain alpha-ketoacid dehydrogenase dihydrolipoyl transacylase (BCKD-E2) protein that reacts with sera from patients with idiopathic dilated cardiomyopathy. |
diagnostic usage
ongoing research
unassigned |
2
2
0 |
| 1.2.1.25 | Brain Injuries, Traumatic |
29764289 |
Divergent Induction of Branched-Chain Aminotransferases and Phosphorylation of Branched Chain Keto-Acid Dehydrogenase Is a Potential Mechanism Coupling Branched-Chain Keto-Acid-Mediated-Astrocyte Activation to Branched-Chain Amino Acid Depletion-Mediated Cognitive Deficit after Traumatic Brain Injury. |
causal interaction
unassigned |
1
0 |
| 1.2.1.25 | branched-chain alpha-keto acid dehydrogenase system deficiency |
14729417 |
Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms. |
causal interaction
unassigned |
3
0 |
| 1.2.1.25 | Cholangitis, Sclerosing |
2715637 |
Antimitochondrial antibodies of primary biliary cirrhosis recognize dihydrolipoamide acyltransferase and inhibit enzyme function of the branched chain alpha-ketoacid dehydrogenase complex. |
ongoing research
therapeutic application
unassigned |
4
1
0 |
