|
Cerebellar Ataxia
|
0.020 |
GeneticVariation
|
phenotype |
BEFREE |
A total of 5 pedigrees were finally genetically diagnosed as mitochondrial ataxia, with 3 pathogenic mutations (m.8344A>G, m.9176T>C, and m.9185T>C), one likely pathogenic mutation (m.3995A>G) in mtDNA, and one pathogenic mutation (c.1159_1162dupAAGT, p.Ser388Terfs) in PDHA1.
|
29756269 |
2019 |
|
Carcinogenesis
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
Pyruvate dehydrogenase E1α subunit (PDHA1) is one of the main factors for the metabolic switch from oxidative phosphorylation (OXPHOS) to aerobic glycolysis and has been suggested to be closely associated with tumorigenesis.
|
29444744 |
2019 |
|
Carcinogenesis
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
SIRT3 elicited an anti-Warburg effect through HIF1α/PDK1/PDHA1 to inhibit cholangiocarcinoma tumorigenesis.
|
30993888 |
2019 |
|
Stomach Carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Kaplan-Meier analysis revealed that low tumor expression of PDHA1 was significantly correlated with a poorer overall survival in patients with GC (5-year overall survival rates for patients with low vs high PDHA1 expression = 49.8% vs 72.7%, hazard ratio of death from GC = 2.594, 95% CI = 1.527 to 4.408, P < 0.001).
|
30611622 |
2019 |
|
Liver carcinoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
In contrast, insulin induced an increase of p-Ser264 PDHA1 levels in hepatocellular carcinoma HepG2 and Huh7 cells.
|
30226812 |
2019 |
|
Liver carcinoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Collectively, our data indicate that reduced PDHA1 protein expression is associated with the poor clinical outcome of HCC.
|
29444744 |
2019 |
|
Malignant Neoplasms
|
0.020 |
AlteredExpression
|
group |
BEFREE |
PDHA1 downregulation has been revealed in several types of cancer to enhance glycolysis.
|
30226598 |
2018 |
|
Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
Here, we found that genetic and pharmacological inactivation of pyruvate dehydrogenase A1 (PDHA1), a subunit of the pyruvate dehydrogenase complex (PDC), inhibits prostate cancer development in mouse and human xenograft tumor models by affecting lipid biosynthesis.
|
29335542 |
2018 |
|
Stomach Carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Our results indicated that miR‑21‑5p targeted PDHA1 to regulate a metabolic switch and cancer progression in gastric cancer, and reveal the potential role of the miR‑21‑5p/PDHA1 axis in gastric cancer treatment.
|
30226598 |
2018 |
|
Primary malignant neoplasm
|
0.020 |
AlteredExpression
|
group |
BEFREE |
PDHA1 downregulation has been revealed in several types of cancer to enhance glycolysis.
|
30226598 |
2018 |
|
Malignant Neoplasms
|
0.020 |
AlteredExpression
|
group |
BEFREE |
We demonstrated that PDHA1 gene KO significantly decreased mitochondrial OXPHOS and promoted anaerobic glycolysis, accompanied with higher stemness phenotype including resistance to chemotherapy, enhanced migration ability and increased expression of cancer stem cell markers.
|
28076853 |
2017 |
|
Primary malignant neoplasm
|
0.020 |
AlteredExpression
|
group |
BEFREE |
We demonstrated that PDHA1 gene KO significantly decreased mitochondrial OXPHOS and promoted anaerobic glycolysis, accompanied with higher stemness phenotype including resistance to chemotherapy, enhanced migration ability and increased expression of cancer stem cell markers.
|
28076853 |
2017 |
|
Neoplasms
|
0.020 |
GeneticVariation
|
group |
BEFREE |
This study demonstrated that pyruvate dehydrogenase E1α gene knockout (PDHA1 KO) resulted in alterations in tumor cell metabolism by rendering the cells with increased expression of glutaminase1 (GLS1) and glutamate dehydrogenase1 (GLUD1), leading to an increase in glutamine-dependent cell survival.
|
27462778 |
2016 |
|
Ataxia
|
0.020 |
GeneticVariation
|
phenotype |
BEFREE |
Seventeen mutations involved PDHA1 (a hotspot was identified in exons 6, 7, and 8 in seven males with Leigh syndrome or recurrent ataxia).
|
20002125 |
2010 |
|
Cerebellar Ataxia
|
0.020 |
GeneticVariation
|
phenotype |
BEFREE |
Seventeen mutations involved PDHA1 (a hotspot was identified in exons 6, 7, and 8 in seven males with Leigh syndrome or recurrent ataxia).
|
20002125 |
2010 |
|
Prostate carcinoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
Here, we found that genetic and pharmacological inactivation of pyruvate dehydrogenase A1 (PDHA1), a subunit of the pyruvate dehydrogenase complex (PDC), inhibits prostate cancer development in mouse and human xenograft tumor models by affecting lipid biosynthesis.
|
29335542 |
2018 |
|
Prostate carcinoma
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
We also examined PDHA1 protein expression in prostate cancer tissues by immunohistochemistry and observed that reduced PDHA1 protein expression in clinical prostate carcinomas was significantly correlated with poor prognosis.
|
28076853 |
2017 |
|
Prostate carcinoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
PDHA1 gene knockout in prostate cancer cells results in metabolic reprogramming towards greater glutamine dependence.
|
27462778 |
2016 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
|
27144126 |
2016 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.
|
26944031 |
2016 |
|
Movement Disorders
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
|
27144126 |
2016 |
|
Movement Disorders
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.
|
26944031 |
2016 |
|
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
|
27144126 |
2016 |
|
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.
|
26944031 |
2016 |
|
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.
|
26944031 |
2016 |