PDHA1 Antibody

1. Case demonstrates fetal akinesia deformation sequence due to a de novo hemizygous c.498C > T splice-site mutation in the pyruvate dehydrogenase-alpha 1 (PDHA1) gene. PMID: 28495245
2. Data show that metformin reduces hypoxia-inducible factor 1alpha (HIF-1alpha) gene expression and increases pyruvate dehydrogenase (PDH) expression. PMID: 27474170
3. The report PDHA1 as a new component of brainstem-type Lewy bodies in idiopathic PD, DLB and PARK14, the level of PDHA1 protein being significantly decreased in the putamen and substantia nigra of patients with idiopathic Parkinson's disease . PMID: 28564592
4. Findings show that serine-threonine-tyrosine kinase 1 (NOK) mediates glycolysis and nuclear pyruvate dehydrogenase complex (PDC) associated histone acetylation. PMID: 28410146
5. The association of mitochondrial microphthalmia-associated transcription factor (MITF) with pyruvate dehydrogenase (PDH) emerges as an important regulator of mast cell function. Our findings indicate that PDH could arise as a new target for the manipulation of allergic diseases. PMID: 27871875
6. our results show that negative PDHA1 gene expressionis associated with significantly higher cell stemness in prostate cancer cells and reduced protein expression of this gene is associated with shorter clinical outcome in prostate cancers. PMID: 28076853
7. oncoprotein HBXIP enhances glucose metabolism reprogramming through suppressing SCO2 and PDHA1 in breast cancer PMID: 26309161
8. Lack of PDHE1alpha protein expression is associated with Esophageal Squamous Cell Carcinoma. PMID: 26408721
9. MPO and BPI in CD4(+)T-lymphocytes, and PDHA1 and MRPL42 in CD8(+) T-lymphocytes might be used as specific biomarkers of severe asthma progression. PMID: 26107902
10. Phosphorylation at distinct serine and tyrosine residues inhibits PDHA1 through distinct mechanisms to impact active site accessibility. PMID: 25104357
11. High HK2 expression combined with low phosphorylated PDHA1 expression in the invasive front lesions of colorectal tumors is predictive of tumor aggressiveness and survival. PMID: 25060325
12. In the presence of PPARbeta/delta, Vpr induced a 3.3-fold increase in PPAR response element-driven transcriptional activity, a 1.9-fold increase in PDK4 protein expression, and a 1.6-fold increase in the phosphorylated pyruvate dehydrogenase subunit E1alpha. PMID: 23842279
13. In this study the phenotypes of patients with PDH deficiency have been divided into three groups of mutations. PMID: 19517265
14. Expression of the PDHA1 gene was found in all somatic cells, whereas expression of PDHA2 gene was restricted to germ cells. The switch from X-linked to autosomic gene expression occurred in spermatocytes. PMID: 22750801
15. Molecular analysis of PDH1A revealed a novel hemizygous c.1045G>A mutation, predicting a p.A349T missense mutation. PMID: 22142326
16. Skin fibroblast culture assay revealed PDH deficiency, confirmed by mutation analysis of the E1 alpha subunit. PMID: 21895644
17. TNFalpha can inhibit pulmonary artery smooth muscle cells pyruvate dehydrogenase activity and induce a pulmonary arterial hypertension phenotype. PMID: 21809123
18. We provide an efficient stepwise strategy for mutation screening in pyruvate dehydrogenase complex genes and expand the growing list of PDHA1 mutations analyzed at the structural level PMID: 21914562
19. Data show that overexpression of ErbB2 maintains PDH flux by suppressing PDK4 expression in an Erk-dependent manner. PMID: 21852536
20. 4 affected female patients with PDHA1 mutations who had with severe cortical atrophy, dilated ventricles, and an incomplete corpus callosum. PMID: 21723463
21. We document the broad variability of clinical symptoms of pdha1 deficiency disease. We proved that normal PDHc activity may not exclude the disease. PMID: 21470495
22. Novel nonsense mutation (R263X) of the E1alpha subunit in pyruvate dehydrogenase complex deficiency PMID: 20958858
23. PDHA1 mutations were screened in 40 patients with biochemically demonstrated pyruvate dehydrogenase complex deficiency deficiency or strong clinical suspicion and changes with probable pathological significance were found in 20. PMID: 20002461
24. AAV3-mediated transfer and expression of the pyruvate dehydrogenase E1 alpha subunit gene causes metabolic remodeling and apoptosis of human liver cancer cells. PMID: 19586787
25. 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
26. determinant spreading might underlie the autoimmunity against Elalpha. PMID: 14708897
27. PDHA1 gene mutations may have a role in Pyruvate dehydrogenase E1 subunit deficiency PMID: 16713755
28. Molecular genetic analysis of the X-chromosomal E1alpha subunit of PDH showed three new mutations in phylogenetically conserved areas of the protein: Glu358Lys in patient 1; Arg88Lys in patient 2 and 3 (brothers); and Leu216Ser in patient 4. PMID: 16967364
29. Short-term elevation in plasma non-esterified fatty acids at rest increases PDH-E1alpha phosphorylation, but exercise overrules this effect and phosphorylation leads to even dephosphorylation during exercise with intralipid infusion. PMID: 17065338
30. Attenuated PDHa activity contributes to the preferential oxidation of n-6 PUFA during moderate-intensity exercise. PMID: 17947500
31. Resting PDH protein content and phosphorylation on PDH-E1 alpha sites 1 and 2 were higher in vastus lateralis than in triceps and deltoid as was the activity of oxidative enzymes PMID: 17957032
32. two synonymous mutations expand the spectrum of rare PDHA1 splicing mutations, all of which are located in non canonical splice sites. PMID: 18023225
33. Our results encourage the use of amino acid supplementation to overcome the metabolic/biochemical changes induced by PDHA1 gene specific mutations associated with mild pyruvate dehydrogenase complex phenotypes. PMID: 18398624

显示更多

收起更多

HGNC: 8806

OMIM: 300502

KEGG: hsa:5160

UniGene: Hs.530331