PDHX Antibody

1. We propose testing for the R446* mutation in PDHX as a rapid first screening in Roma infants with metabolic acidosis. PMID: 25087164
2. MiR-26a regulates glucose metabolism of colorectal cancer cells by direct targeting PDHX. PMID: 24935220
3. New mutation in PDHX gene found in two unrelated patients with Pyruvate dehydrogenase deficiency. PMID: 22766002
4. genetic association with systemic lupus erythematosus to a haplotype between PDHX and CD44 was established. PMID: 21194677
5. determination that PDH and complex III exist at a steady-state ratio of 1:100, 1:128 and 1:202 in HeLa cell extracts, fibroblast mitochondria and heart tissue mitochondria, respectively PMID: 12372595
6. model of the pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and binding of the E1 and E3 components PMID: 14638692
7. specificity of pairing for human E3BP with E3 from its subcomplex structure to be most likely due to conformational rigidity of the binding fragment of the E3-binding domain of E3BP and its exquisite amino acid match with the E3 target interface PMID: 16263718
8. A cluster of disease-causing E3 mutations located near the center of the E3BD/E3 interface prevents the efficient recruitment of these E3 variants by E3BP into the PDC, leading to the dysfunction of the PDC catalytic machine. PMID: 16442803
9. These data provide an additional case of E3BP deficiency with a unique and previously unreported deletion in the PDHX gene. PMID: 16566017
10. Despite the presence of antibodies reactive with PDC-E3BP in the majority of primary biliary cirrhosis (PBC) patients this self-protein is not a dominant T-cell autoantigen in PBC. PMID: 16629643
11. PDHX-assisted photosensitization with rose Bengal induces structural and functional alteration of mitochondria in HeLa cells. PMID: 17024456

Show More

Hide All

HGNC: 21350

OMIM: 245349

KEGG: hsa:8050

STRING: 9606.ENSP00000227868

UniGene: Hs.502315