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Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD or PDH deficiency) is a rare neurodegenerative disorder associated with abnormal mitochondrial metabolism. PDCD is a genetic disease resulting from mutations in one of the components of the pyruvate dehydrogenase complex (PDC). [1]
Tumor M2-PK is produced in all rapidly dividing cells and is responsible for enabling cancer cells to consume glucose at an accelerated rate; on forcing the cells to switch to pyruvate kinase's alternative form by inhibiting the production of tumor M2-PK, their growth was curbed. The researchers acknowledged the fact that the exact chemistry of ...
Tumor stroma and extracellular matrix in hypoxia. Tumor hypoxia is the situation where tumor cells have been deprived of oxygen.As a tumor grows, it rapidly outgrows its blood supply, leaving portions of the tumor with regions where the oxygen concentration is significantly lower than in healthy tissues.
Pyruvate dehydrogenase (PDH) deficiency is a congenital degenerative metabolic disease resulting from a mutation of the pyruvate dehydrogenase complex (PDC) located on the X chromosome. While defects have been identified in all 3 enzymes of the complex, the E1-α subunit is predominantly the culprit.
Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals.
Secondly, a proton must be added to the enolate of pyruvate to produce the functional form of pyruvate that the cell requires. [14] Because the substrate for pyruvate kinase is a simple phospho-sugar, and the product is an ATP, pyruvate kinase is a possible foundation enzyme for the evolution of the glycolysis cycle, and may be one of the most ...
228026 Ensembl ENSG00000152256 ENSMUSG00000006494 UniProt Q15118 Q8BFP9 RefSeq (mRNA) NM_001278549 NM_002610 NM_172665 NM_001360002 RefSeq (protein) NP_001265478 NP_002601 NP_766253 NP_001346931 Location (UCSC) Chr 2: 172.56 – 172.61 Mb Chr 2: 71.7 – 71.73 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Pyruvate dehydrogenase lipoamide kinase isozyme 1, mitochondrial is an enzyme ...
A significant proportion of pyruvate is converted into lactate (the blood lactate-to-pyruvate ratio is normally 10:1). The human metabolism produces about 20 mmol/kg of lactic acid every 24 hours. This happens predominantly in tissues (especially muscle) that have high levels of the "A" isoform of the enzyme lactate dehydrogenase (LDHA), which ...