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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
Xenobiotics and loss of tolerance in primary biliary cholangitis.
Leung et al., Davis, United States. In World J Gastroenterol, Feb 2016
The serologic hallmark of PBC are the presence of high titer anti-mitochondrial autoantibodies (AMA) that recognize the lipoyl domain of the mitochondrial pyruvate dehydrogenase E2 (PDC-E2) subunit.
Combination antiretroviral studies for patients with primary biliary cirrhosis.
Mason et al., Edmonton, Canada. In World J Gastroenterol, Feb 2016
Following the characterization of a human betaretrovirus in patients with primary biliary cirrhosis (PBC), pilot studies using antiretroviral therapy have been conducted as proof of principal to establish a link of virus with disease and with the eventual aim to find better adjunct therapies for patients unresponsive to ursodeoxycholic acid.
Regulation of gene expression by 17β-estradiol in the arcuate nucleus of the mouse through ERE-dependent and ERE-independent mechanisms.
Roepke et al., New Brunswick, United States. In Steroids, Feb 2016
UNASSIGNED: 17β-Estradiol (E2) modulates gene expression in the hypothalamic arcuate nucleus (ARC) to control homeostatic functions.
γ-H2AX responds to DNA damage induced by long-term exposure to combined low-dose-rate neutron and γ-ray radiation.
Fang et al., Shanghai, China. In Mutat Res Genet Toxicol Environ Mutagen, Feb 2016
The effects of different cumulative radiation doses on peripheral blood cell (PBC), subsets of T cells of peripheral blood lymphocytes (PBL) and DNA damage repair were investigated.
Obeticholic acid for the treatment of primary biliary cirrhosis.
Gershwin et al., Davis, United States. In Expert Rev Clin Pharmacol, Jan 2016
Primary biliary cirrhosis (PBC) is characterized by progressive nonsuppurative destruction of small bile ducts, resulting in intrahepatic cholestasis, fibrosis and ultimately end-stage liver disease.
X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome.
Scofield et al., Cincinnati, United States. In Arthritis Rheumatol, Jan 2016
No statistically significant increase of 47,XXX was observed in other female-biased diseases (PBC or RA), supporting the idea of multiple pathways to sex bias in autoimmunity.
Decreased expression of TIPE2 contributes to the hyper-reactivity of monocyte to TLR ligands in primary biliary cirrhosis.
Zhong et al., Shanghai, China. In J Gastroenterol Hepatol, Jan 2016
However, the expression levels of TIPE2 in PBC remained unclear.
Homeodomain proteins: an update.
Affolter et al., Basel, Switzerland. In Chromosoma, Nov 2015
In animals, there are 16 major classes, ANTP, PRD, PRD-LIKE, POU, HNF, CUT (with four subclasses: ONECUT, CUX, SATB, and CMP), LIM, ZF, CERS, PROS, SIX/SO, plus the TALE superclass with the classes IRO, MKX, TGIF, PBC, and MEIS.
Therapy of Primary Biliary Cirrhosis: Novel Approaches for Patients with Suboptimal Response to Ursodeoxycholic Acid.
Parés, In Dig Dis, 2014
Primary biliary cirrhosis (PBC) is a chronic cholestatic disease of presumed autoimmune pathogenesis, characterized by the inflammation and damage of the intrahepatic intermediate and small bile ducts, which eventually results in cirrhosis.
Pathogenesis and Management of Pruritus in PBC and PSC.
Beuers et al., In Dig Dis, 2014
Pruritus is a preeminent symptom in patients with chronic cholestatic liver disorders such as primary biliary cirrhosis and primary sclerosing cholangitis.
The immunobiology and pathophysiology of primary biliary cirrhosis.
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.
Brain [U-13 C]glucose metabolism in mice with decreased α-ketoglutarate dehydrogenase complex activity.
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.
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].
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.
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.
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.
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.
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.
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.
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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