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Pyruvate kinase activators for treatment of pyruvate kinase deficiency
Hematology, 2023Abstract Pyruvate kinase (PK) deficiency is a congenital hemolytic anemia with wide-ranging clinical symptoms and complications associated with significant morbidity and reduced health-related quality of life in both children and adults.
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Pyruvate Metabolism and Control: Factors Affecting Pyruvic Carboxylase Activity
Science, 1964Pyruvic carboxylase activated by acetyl coenzyme A is highly active in the mitochondria of rodent liver, and its activity is increased in fasting and alloxan diabetes. In conjunction with acyl carboxylase activated by di- and tricarboxylic acid, it forms a reciprocating control network.
A D, FREEDMAN, L, KOHN
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Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex
Journal of Inherited Metabolic Disease, 1996SummaryThe most common defect associated with deficiency of the pyruvate dehydrogenase (PDH) complex occurs in the E1 component, specifically due to mutations in the X‐linked E1α gene. Clinical sequelae of these mutations, which range from severe neonatal lactic acidosis to carbohydrate‐sensitive ataxia, can be different in males and females depending ...
B H, Robinson +3 more
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Assays of Pyruvate Dehydrogenase Complex and Pyruvate Carboxylase Activity
2011Pyruvate dehydrogenase complex (PDC) and pyruvate carboxylase (PC) are mitochondrial enzymes that provide the initial steps of the two main alternatives for pyruvate metabolism: oxidative decarboxylation vs. anaplerotic carboxylation, gluconeogenesis, and glycerogenesis.
Douglas, Kerr +2 more
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Pyruvate Carboxylase and Pyruvate Dehydrogenase Deficiency
2014Pyruvate carboxylase and pyruvate dehydrogenase deficiency are the most common disorders in pyruvate metabolism and almost always affect the central nervous system. The severity and the clinical phenotypes vary, with a range from overwhelming neonatal lactic acidosis and early death to milder presentations.
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Nihon rinsho. Japanese journal of clinical medicine, 1974
PK deficiency is the most common and well characterized erythroenzymopathy in the Embden-Meyerhof glycolytic pathway associated with hereditary hemolytic anemia. History of discovery, clinical features, biochemical studies, as well as recent studies on molecular level were reviewed, with a stress on our own studies. As reference materials, Tables 2 and
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PK deficiency is the most common and well characterized erythroenzymopathy in the Embden-Meyerhof glycolytic pathway associated with hereditary hemolytic anemia. History of discovery, clinical features, biochemical studies, as well as recent studies on molecular level were reviewed, with a stress on our own studies. As reference materials, Tables 2 and
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The pyruvate-lactate axis modulates cardiac hypertrophy and heart failure
Cell Metabolism, 2021Ahmad A Cluntun +2 more
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The mitochondrial pyruvate carrier regulates memory T cell differentiation and antitumor function
Cell Metabolism, 2022Alison Jaccard +2 more
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