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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 14 Mar 2013.

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)
Papers on PBC
Association between cytotoxic T-lymphocyte antigen 4 gene polymorphisms and primary biliary cirrhosis in Chinese population: data from a multicenter study.
New
Zhou et al., Nanjing, China. In J Gastroenterol Hepatol, 22 Mar 2013
BACKGROUND AND AIMS: The cytotoxic T lymphocyte antigen-4 (CTLA4) gene polymorphisms have been shown to be associated with the risk of primary biliary cirrhosis (PBC).
Apotopes and innate immune system: Novel players in the primary biliary cirrhosis scenario.
New
Invernizzi et al., Rozzano, Italy. In Dig Liver Dis, 13 Mar 2013
One of the major unanswered questions in the pathogenesis of primary biliary cirrhosis is the specificity of small intrahepatic bile ducts attack while PDC-E2 is present in mitochondria of all nucleated cells.
Neoadjuvant epirubicin, gemcitabine and docetaxel for primary breast cancer: Long-term survival data and major prognostic factors based on two consecutive neoadjuvant phase I/II trials.
New
Schneeweiss et al., Heidelberg, Germany. In Int J Cancer, 07 Mar 2013
We previously reported primary endpoints of two consecutive phase I/II trials, evaluating different schedules of neoadjuvant epirubicin (E), gemcitabine (G) and docetaxel (Doc) for primary breast cancer (PBC).
Antagonism Versus Cooperativity with TALE Cofactors at the Base of the Functional Diversification of Hox Protein Function.
New
Castelli-Gair Hombría et al., Sevilla, Spain. In Plos Genet, 28 Feb 2013
This antagonistic interaction uncovers an alternative way in which MEIS and PBC cofactors can modulate Abd-B like posterior Hox genes during development.
The immunobiology and pathophysiology of primary biliary cirrhosis.
New
Impact
Gershwin et al., Birmingham, United Kingdom. In Annu Rev Pathol, 24 Feb 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.
Pleiotropic functions of bile acids mediated by the farnesoid X receptor.
New
Mikov et al., Novi Sad, Serbia. In Acta Gastroenterol Belg, Dec 2012
During a phase II clinical trial, the administration of a semisynthetic BA derivative 6-ethyl-chenodeoxycholic acid (6-ECDCA) to patients with diabetes, non-alcoholic fatty liver disease (NAFLD) and primary biliary cirrhosis (PBC), led to encouraging results, despite side effects being observed in pre-clinical studies.
Primary biliary cirrhosis: a multi-faced interactive disease involving genetics, environment and the immune response.
Review
New
Gershwin et al., Tartu, Estonia. In Apmis, Nov 2012
There has been considerable progress at defining the immune response in this disease, including quantitation of autoreactive T cells against PDC-E2, the major mitochondrial autoantigen.
Primary biliary cirrhosis and the nuclear pore complex.
Review
New
Gershwin et al., Davis, United States. In Autoimmun Rev, Oct 2012
Approximately a quarter of patients with primary biliary cirrhosis (PBC) have antibodies targeting proteins of the nuclear pore complex (NPC), a multi-protein structure that mediates molecular transport across the nuclear envelope.
Role for mycobacterial infection in pathogenesis of primary biliary cirrhosis?
Review
New
Bogdanos et al., London, United Kingdom. In World J Gastroenterol, Oct 2012
Primary biliary cirrhosis (PBC) is a progressive cholestatic liver disease characterized by the immune-mediated destruction of biliary epithelial cells in small intrahepatic bile ducts.
Cytotoxic T-lymphocyte associated antigen-4 gene polymorphisms and primary biliary cirrhosis: a systematic review.
Review
New
Liu et al., Shijiazhuang, China. In J Gastroenterol Hepatol, Jul 2012
However, the associations between CTLA-4 polymorphisms and primary biliary cirrhosis (PBC) remain ambiguous.
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.
Genetic determinants of acquired cholestasis: a systems biology approach.
Review
Pirola et al., Buenos Aires, Argentina. In Front Biosci, 2011
This review focuses on the role of the genetic component of three adult cholestatic diseases, namely, primary sclerosing cholangitis (PSC), primary biliary cirrhosis (PBC), and intrahepatic cholestasis of pregnancy (ICP).
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
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
Catalytic domain of PDC-E2 contains epitopes recognized by antimitochondrial antibodies in primary biliary cirrhosis.
GeneRIF
Klein et al., Tübingen, Germany. In World J Gastroenterol, 2010
Data suggest that the catalytic site of pyruvate dehydrogenase complex E2 rather than the previously reported lipoyl binding peptide may contain immunodominant epitopes recognized by antimitochondrial antibodies in primary biliary cirrhosis.
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
OBJECTIVE: 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
OBJECTIVE: 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
OBJECTIVE: 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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