|
Esophageal Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
In this study, a KYSE450 PDHA1 knockout (KO) cell line of esophageal cancer was established by CRISPR/Cas9 technology.
|
31819487 |
2019 |
|
Esophageal carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
In this study, a KYSE450 PDHA1 knockout (KO) cell line of esophageal cancer was established by CRISPR/Cas9 technology.
|
31819487 |
2019 |
|
Cholangiocarcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
SIRT3 elicited an anti-Warburg effect through HIF1α/PDK1/PDHA1 to inhibit cholangiocarcinoma tumorigenesis.
|
30993888 |
2019 |
|
Squamous cell carcinoma of esophagus
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Our previous studies have shown that low level of PDHA1 protein expression in esophageal squamous cell cancer (ESCC) was correlated with poor prognosis.
|
31819487 |
2019 |
|
Malignant neoplasm of esophagus
|
0.010 |
Biomarker
|
disease |
BEFREE |
In this study, a KYSE450 PDHA1 knockout (KO) cell line of esophageal cancer was established by CRISPR/Cas9 technology.
|
31819487 |
2019 |
|
Secondary malignant neoplasm of lymph node
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Intriguingly, PDHA1 expression was significantly correlated with depth of invasion (P < 0.001), lymph node metastasis (P < 0.001), TNM stage (P < 0.001), and nerve invasion (P = 0.006).
|
30611622 |
2019 |
|
Squamous cell carcinoma of the head and neck
|
0.010 |
Biomarker
|
disease |
BEFREE |
Furthermore, LDHA/PDHA1 changes in HNSCC cells resulted in a broad metabolic reprogramming while intracellular molecules including polyunsaturated fatty acids and nitrogen metabolism related metabolites underlie the malignant changes.
|
31100640 |
2019 |
|
Tumor Cell Invasion
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
Intriguingly, PDHA1 expression was significantly correlated with depth of invasion (P < 0.001), lymph node metastasis (P < 0.001), TNM stage (P < 0.001), and nerve invasion (P = 0.006).
|
30611622 |
2019 |
|
Tumor Progression
|
0.010 |
Biomarker
|
phenotype |
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 |
|
Arthrogryposis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The second case concerns a sporadic patient with brain anomalies and arthrogryposis due to a de novo hemizygous c.498C > T splice-site mutation in the pyruvate dehydrogenase-alpha 1 (PDHA1) gene.
|
28495245 |
2017 |
|
Carcinoma
|
0.010 |
AlteredExpression
|
group |
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 |
|
Parkinson Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
Here we 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 PD.
|
28564592 |
2017 |
|
Lewy Body Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
Alteration of mitochondrial protein PDHA1 in Lewy body disease and PARK14.
|
28564592 |
2017 |
|
Pena-Shokeir syndrome type I
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.
|
28495245 |
2017 |
|
Epilepsy
|
0.010 |
Biomarker
|
disease |
BEFREE |
In this review, we aim to discuss the relationship between occurrence of epilepsy and PDHc deficiency associated with the pyruvate dehydrogenase complex (E1α subunit (PDHA1) and E1β subunit (PDHB)) and PDH phosphatase (PDP) deficiency.
|
26354166 |
2015 |
|
Inborn Errors of Metabolism
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Pyruvate dehydrogenase complex (PDHC) deficiency is an inborn error of metabolism that occurs most commonly due to mutations in the X-linked E1α subunit gene (PDHA1).
|
23572181 |
2014 |
|
West Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.
|
22473288 |
2012 |
|
Mitochondrial Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
We recommend to revisit patients who are clinically suspicious for a mitochondrial disorder especially for hidden PDHA1 mutations, such as large deletions.
|
22473288 |
2012 |
|
Congenital chromosomal disease
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Sequencing of the PDHA1 gene did not reveal deleterious mutations, and BAC based microarray analysis did not reveal any chromosomal abnormality.
|
20591708 |
2010 |
|
Congenital lactic acidosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Deletion at chromosomal band Xp22.12-Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis.
|
20591708 |
2010 |
|
Intermittent ataxia
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
PDH activity and PDHA1 gene were studied in two siblings presenting with intermittent ataxia in childhood.
|
18504677 |
2008 |
|
Metabolic Syndrome X
|
0.010 |
Biomarker
|
disease |
BEFREE |
We found coordinate regulation of key metabolic enzymes with aerobic training in metabolic syndrome (aspartate aminotransferase 1, lactate dehydrogenase B, and pyruvate dehydrogenase-alpha(1)).
|
15347626 |
2005 |
|
Dystonia Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
Two individuals with pyruvate dehydrogenase (PDH) deficiency due to missense mutations in the gene for the E1alpha subunit (PDHA1) presented during childhood with dystonia.
|
15473177 |
2004 |
|
Coffin-Lowry syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Since Coffin-Lowry syndrome and neonatal lactic acidosis are associated with mutations in the human homologues of Rsk2 and Pdha1 respectively, lined and stripey provide models for gene deficiencies in these disorders.
|
9467016 |
1998 |
|
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 |