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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 02 Sep 2015.

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
ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.
New
Battezzati et al., Genova, Italy. In J Gastroenterol, 01 Oct 2015
Mutation screening of ABCB4 was carried out in 90 patients with idiopathic chronic cholestasis (ICC), primary biliary cirrhosis (PBC), primary sclerosing cholangitis (PSC), ICP, and JC.
Epigenetics and Primary Biliary Cirrhosis: a Comprehensive Review and Implications for Autoimmunity.
New
Lian et al., Hefei, China. In Clin Rev Allergy Immunol, 13 Sep 2015
UNASSIGNED: Primary biliary cirrhosis (PBC) is a chronic inflammatory autoimmune disease that develops based upon the interaction of genetic and environmental factors.
Natural killer cells regulate T cell immune responses in primary biliary cirrhosis.
New
Akashi et al., Fukuoka, Japan. In Hepatology, 11 Sep 2015
UNASSIGNED: The hallmark of primary biliary cirrhosis (PBC) is the presence of autoreactive T and B cell responses that target biliary epithelial cells (BEC).
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.
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).
Expression of hepatic Fibroblast Growth Factor 19 is enhanced in Primary Biliary Cirrhosis and correlates with severity of the disease.
New
Milkiewicz et al., Szczecin, Poland. In Sci Rep, Dec 2014
Whether fibroblast growth factor 19 (FGF19) or farnesoid X receptor (FXR) dependent signaling are involved in the regulation of BA homeostasis in primary biliary cirrhosis (PBC) remains unknown.
Low Serum Hepcidin in Patients with Autoimmune Liver Diseases.
New
Simos et al., Lárisa, Greece. In Plos One, Dec 2014
Hepcidin mRNA levels were determined in liver biopsies obtained from 126 patients with HCV (n = 21), HBV (n = 23), autoimmune cholestatic disease (primary biliary cirrhosis and primary sclerosing cholangitis; PBC/PSC; n = 34), autoimmune hepatitis (AIH; n = 16) and non-alcoholic fatty liver disease (NAFLD; n = 32).
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).
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.
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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