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Dihydrolipoamide S-acetyltransferase

PBC, E-2, PDC-E2, E2B
This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009] (from NCBI)
Top mentioned proteins: ACID, CAN, HAD, Phosphogluconate Dehydrogenase, POLYMERASE
Papers on PBC
Farnesoid X receptor modulators (2011 - 2014): a patent review.
New
Zampella et al., Napoli, Italy. In Expert Opin Ther Pat, 31 Aug 2015
Cholestasis might occur as a consequence of inborn metabolic errors and three major disorders, intra-hepatic cholestasis in pregnancy, primary biliary cirrhosis (PBC) and primary sclerosing cholangitis account for the vast majority of clinical cholestasis occurring in adulthood.
Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients.
New
Barsottini et al., São Paulo, Brazil. In Cerebellum, 15 Aug 2015
Genes differentially expressed in peripheral blood cells (PBC) could potentially help in the understanding of FRDA pathophysiology and also function as reliable disease biomarkers obtained from an easily accessible tissue, which could have implications in clinical practice.
Recent advances in the development of farnesoid X receptor agonists.
Review
New
Lindor et al., Scottsdale, United States. In Ann Transl Med, Jan 2015
In two clinical trials of OCA in patients with primary biliary cirrhosis (PBC), a progressive cholestatic liver disease, OCA significantly reduced serum alkaline phosphatase (ALP) levels, an important disease marker that correlates well with clinical outcomes of patients with PBC.
DNA methylation profiling of the X chromosome reveals an aberrant demethylation on CXCR3 promoter in primary biliary cirrhosis.
New
PBC Epigenetic Study Group et al., Milano, Italy. In Clin Epigenetics, Dec 2014
BACKGROUND: Although the etiology of primary biliary cirrhosis (PBC) remains enigmatic, there are several pieces of data supporting the thesis that a strong genetic predisposition and environmental factors interact to produce a selective loss of tolerance.
Signal transducer and activator of transcription 4 in liver diseases.
Review
New
Wang et al., Beijing, China. In Int J Biol Sci, Dec 2014
STAT4 gene polymorphism has been shown to be associated with the antiviral response in chronic hepatitis C and drug-induced liver injury (DILI), primary biliary cirrhosis (PBC), HCV-associated liver fibrosis and in hepatocellular carcinoma (HCC).
Mechanisms of autoimmune liver disease.
Review
New
Mattner et al., Erlangen, Germany. In Discov Med, Nov 2014
Thus, next to tissue-specific factors, general tolerance mechanisms are affected in devastating hepatic disorders like primary sclerosing cholangitis (PSC), autoimmune hepatitis (AIH), or primary biliary cirrhosis (PBC).
Recent advances on the mechanisms regulating cholangiocyte proliferation and the significance of the neuroendocrine regulation of cholangiocyte pathophysiology.
Review
Gaudio et al., Roma, Italy. In Ann Transl Med, 2013
Cholangiocytes play several key roles in the modification of ductal bile and are also the target cells in chronic cholestatic liver diseases (i.e., cholangiopathies) such as PSC, PBC, polycystic liver disease (PCLD) and cholangiocarcinoma (CCA).
Etiopathogenesis of primary biliary cirrhosis: an overview of recent developments.
Cullen et al., High Wycombe, United Kingdom. In Hepatol Int, 2013
Biliary specificity in PBC is most likely driven by the uniqueness of cholangiocyte apoptosis in which the PDC-E2 autoantigen undergoes differential glutathiolation.
The immunobiology and pathophysiology of primary biliary cirrhosis.
Review
Impact
Gershwin et al., Birmingham, United Kingdom. In Annu Rev Pathol, 2013
Fifth, several mouse models of PBC highlight the importance of loss of tolerance to PDC-E2 as well as a critical role for the interleukin (IL)-12 signaling pathway.
Towards systemic sclerosis and away from primary biliary cirrhosis: the case of PTPN22.
Review
Bogdanos et al., Szczecin, Poland. In Auto Immun Highlights, 2012
Primary biliary cirrhosis (PBC) is a chronic cholestatic liver disease characterized by immune-mediated destruction of the small and medium size intrahepatic bile ducts.
Involvement of the liver in rheumatic diseases.
Takahashi et al., Fukushima, Japan. In Clin J Gastroenterol, 2012
These diseases may be accompanied by autoimmune hepatitis and primary biliary cirrhosis (PBC).
Brain [U-13 C]glucose metabolism in mice with decreased α-ketoglutarate dehydrogenase complex activity.
GeneRIF
Sonnewald et al., Trondheim, Norway. In J Neurosci Res, 2011
These results imply that diminished KGDHC activity has the potential to induce the reduction in glucose utilization that is seen in several neurodegenerative diseases.
Nuclear localization of pyruvate dehydrogenase complex-E2 (PDC-E2), a mitochondrial enzyme, and its role in signal transducer and activator of transcription 5 (STAT5)-dependent gene transcription.
GeneRIF
Yu et al., North Chicago, United States. In Cell Signal, 2011
a novel function of pyruvate dehydrogenase complex E2 in the nucleus in up-regulating the transactivating ability of STAT5
[2-Oxoglutarate dehydrogenase complex and its multipoint control].
GeneRIF
Strumiło et al., Białystok, Poland. In Postepy Biochem, 2010
2-oxoglutarate dehydrogenase complex (OGDHC), the key regulatory enzyme of Krebs cycle. [review]
Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.
GeneRIF
Eide et al., Oslo, Norway. In Mol Genet Metab, 2010
4 novel mutations in DBT gene resulting in intermittent maple syrup urine disease in 7 Norwegian patients; pathogenic effect of the mutations is depletion of cellular protein; intermittent form of MSUD appears to be due to residual R301C mutant protein
Solution structure and characterisation of the human pyruvate dehydrogenase complex core assembly.
GeneRIF
Byron et al., Glasgow, United Kingdom. In J Mol Biol, 2010
Solution structure and characterisation of the human pyruvate dehydrogenase complex core assembly
Tumor transcriptome reveals the predictive and prognostic impact of lysosomal protease inhibitors in non-small-cell lung cancer.
Impact
Collie-Duguid et al., Aberdeen, United Kingdom. In J Clin Oncol, 2006
PURPOSE: Insight into clinical response to platinum-based chemotherapy (PBC) in non-small-cell lung cancer (NSCLC).
Hormone receptor status of a contralateral breast cancer is independent of the receptor status of the first primary in patients not receiving adjuvant tamoxifen.
Impact
Osborne et al., Houston, United States. In J Clin Oncol, 2005
PURPOSE: To determine whether the hormone receptor status of the primary breast cancer (PBC) is predictive of the hormone receptor status of the subsequent contralateral breast cancer (CBC).
5-HT4(a) receptors avert opioid-induced breathing depression without loss of analgesia.
Impact
Richter et al., Göttingen, Germany. In Science, 2003
This is caused by direct inhibition of rhythm-generating respiratory neurons in the Pre-Boetzinger complex (PBC) of the brainstem.
Phase I trial of recombinant fusion protein PIXY321 for mobilization of peripheral-blood cells.
Impact
Kessinger et al., Omaha, United States. In J Clin Oncol, 1996
PURPOSE: Mobilization of peripheral-blood cells (PBC) with cytokines alone results in rapid hematopoietic recovery and avoids the potential morbidity associated with mobilization by chemotherapy.
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