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2,263 Possible Causes for Deficiency, kinase, pyruvate

  • Pyruvate Kinase Deficiency

    Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells . , Hoffman, Ronald; Jr, Edward J[] Although deficiency of pyruvate kinase also develops in hepatocytes, these cells possess the ability to produce the enzyme in sufficient concentrations to overcome the deficiency[] In humans, pyruvate kinase deficiency is the second most common erythrocyte enzyme disorder.[]

  • Vitamin Deficiency

    Glycogen synthase kinase 3beta (GSK3beta) is one of the most important protein kinase in regulating tau phosphorylation; overexpression of active GSK3beta causes ADlike hyperphosphorylation[] Abstract The oral manifestations of vitamin deficiencies are often the first indications of malnutrition.[] The incidence of thiamine deficiency was 31% as assessed by the activation of transketolase, and 55% as assessed by the pyruvate tolerance test.[]

  • Biotin Deficiency

    Deficiency of pyruvate carboxylase (PC) activity in the brains of the young animals (70%) is higher than has been reported before.[] Investigations into the mechanisms suggested that impaired activation of AMP kinase in DCs cultured in BDM may be responsible for the observed increase in inflammatory responses[] Abstract Several of the clinical and biochemical manifestations of biotin deficiency also occur in severe protein-energy malnutrition (PEM).[]

  • Wernicke Encephalopathy

    Thiamine is a cofactor for pyruvate dehydrogenase.[] OBJECTIVE: The aim of the study was to report a case of Wernicke encephalopathy (WE) due to fedratinib (Janus Kinase 2 inhibitor) treatment with atypical neuroimaging findings[] This is the first reported epidemic of WE secondary to thiamine-deficient infant formula.[]

  • Selenium Deficiency

    […] parenteral nutrition for about 1 1/2 yr developed intermittent leg muscle pain and tenderness and elevation in serum activities of glutamic oxaloacetic transaminase, glutamic pyruvic[] Selenium deficiency occurs due to an insufficient dietary intake of selenium.[] Abstract Skeletal muscle disorders manifested by muscle pain, fatigue, proximal weakness, and serum creatine kinase (CK) elevation have been reported in patients with selenium[]

  • GLUT1 Deficiency Syndrome

    Through in vitro kinase assays, mass spectrometry, and phosphospecific antibodies, we identify serine 226 in GLUT1 as a PKC phosphorylation site.[] Mutations in this gene limit brain glucose availability and lead to cerebral energy deficiency.[] It is currently a recognised treatment for intractable (drug resistant) epilepsy, Glut 1 Deficiency Syndrome and Pyruvate Dehydrogenase Deficiency.[]

  • Canavan Disease

    Biochemical measurements indicated that synaptosomal membranes prepared from the striatum but not from the cerebral cortex were deficient in protein kinase activity based[] The underlying biochemical abnormality in CD is a hereditary deficiency of N-aspartoacylase transmitted in an autosomal recessive fashion.[] Pyruvate and ketone bodies oxidation rates and the activity of cytochrome-c oxidase were normal.[]

  • Heart Valve Disease

    Most solutions also included a nutrient—glucose, pyruvate, glutamine, or a supplement mixture called F-12—to stimulate the cells’ metabolism.[] Extracellular signal-regulated kinase (Erk 1/2) is a signaling molecule downstream from the 5-HT(2A)R.[] Calcidiol and TOS were negatively correlated (r -0.29; P DISCUSSION: We demonstrate that vitamin D deficiency and secondary increases in PTH are highly prevalent.[]

  • Polyploidy

    Abstract This study was designed to understand the mechanism and functional implication of the two heterozygous mutations (H391Y and K422R) of human pyruvate kinase M2 isozyme[] Many small-molecule inhibitors of Aurora kinases are currently undergoing clinical trials. Aurora A kinase is essential for successful mitotic transition.[] In order to study the potential role of Aurora-C, we examined the effects of a kinase-deficient (KD) mutant (AurC-KD) in HeLa Tet-Off cells under tetracycline control.[]

  • Stress

    The expression of HMGB1 was detected by immunohistochemistry.Cells were pre-incubated with HMGB1 inhibitor ethyl pyruvate (EP) ,then detected the expression pattern of autophagic[] RATIONALE: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disease.[] HSCT represents a curative therapy for patients with MYSM1 deficiency. Copyright 2017 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc.[]

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