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Year Number of Results
1975 1
1976 3
1977 1
1978 1
1979 1
1981 3
1982 1
1983 1
1985 4
1986 1
1988 3
1989 1
1994 1
1996 3
1998 2
1999 1
2000 1
2001 3
2002 5
2005 2
2006 2
2010 1
2013 2
2014 1
2016 2
2017 2
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2024 0

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51 results

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Page 1
Manganese metabolism in humans.
Chen P, Bornhorst J, Aschner M. Chen P, et al. Front Biosci (Landmark Ed). 2018 Mar 1;23:1655-1679. doi: 10.2741/4665. Front Biosci (Landmark Ed). 2018. PMID: 29293455 Free article. Review.
Manganese (Mn) is an essential nutrient for intracellular activities; it functions as a cofactor for a variety of enzymes, including arginase, glutamine synthetase (GS), pyruvate carboxylase and Mn superoxide dismutase (Mn-SOD). Through these metalloproteins, Mn pla …
Manganese (Mn) is an essential nutrient for intracellular activities; it functions as a cofactor for a variety of enzymes, including arginas …
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.
Marin-Valencia I, Roe CR, Pascual JM. Marin-Valencia I, et al. Mol Genet Metab. 2010 Sep;101(1):9-17. doi: 10.1016/j.ymgme.2010.05.004. Epub 2010 Jun 9. Mol Genet Metab. 2010. PMID: 20598931 Review.
Pyruvate carboxylase (PC) is a regulated mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a critical transition that replenishes citric acid cycle intermediates and facilitates other biosynthetic reactions that drive anabolism.
Pyruvate carboxylase (PC) is a regulated mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate
Pyruvate carboxylase.
Wallace JC, Jitrapakdee S, Chapman-Smith A. Wallace JC, et al. Int J Biochem Cell Biol. 1998 Jan;30(1):1-5. doi: 10.1016/s1357-2725(97)00147-7. Int J Biochem Cell Biol. 1998. PMID: 9597748 Review.
Pyruvate carboxylase [EC 6.4.1.1] is a member of the family of biotin-dependent carboxylases and is found widely among eukaryotic tissues and in many prokaryotic species. ...Diabetes and hyperthyroidism increase the level of expression of pyruvate carboxyl
Pyruvate carboxylase [EC 6.4.1.1] is a member of the family of biotin-dependent carboxylases and is found widely among eukaryo
Disorders of pyruvate metabolism.
De Meirleir L. De Meirleir L. Handb Clin Neurol. 2013;113:1667-73. doi: 10.1016/B978-0-444-59565-2.00034-4. Handb Clin Neurol. 2013. PMID: 23622387 Review.
Pyruvate dehydrogenase and pyruvate carboxylase deficiency are the most common disorders in pyruvate metabolism. ...Deficiencies in the other subunits have also been described, but in a smaller number of patients. Pyruvate carboxylase
Pyruvate dehydrogenase and pyruvate carboxylase deficiency are the most common disorders in pyruvate meta
Disorders of gluconeogenesis.
van den Berghe G. van den Berghe G. J Inherit Metab Dis. 1996;19(4):470-7. doi: 10.1007/BF01799108. J Inherit Metab Dis. 1996. PMID: 8884571 Review.
Gluconeogenesis, or the formation of glucose from mainly lactate/ pyruvate, glycerol and alanine, plays an essential role in the maintenance of normoglycaemia during fasting. Inborn deficiencies are known of each of the four enzymes of the glycolytic-gluconeogenic pathway …
Gluconeogenesis, or the formation of glucose from mainly lactate/ pyruvate, glycerol and alanine, plays an essential role in the main …
Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.
Robinson BH, MacKay N, Chun K, Ling M. Robinson BH, et al. J Inherit Metab Dis. 1996;19(4):452-62. doi: 10.1007/BF01799106. J Inherit Metab Dis. 1996. PMID: 8884569 Review.
Missplicing mutations involving exon 6 deletion have been reported, as has a missense mutation conferring true thiamin-responsiveness of the enzyme and the patient's clinical symptoms. Pyruvate carboxylase deficiency, on the other hand, is a true autosomal re …
Missplicing mutations involving exon 6 deletion have been reported, as has a missense mutation conferring true thiamin-responsiveness of the …
Mitochondrial myopathies.
DiMauro S, Bonilla E, Zeviani M, Nakagawa M, DeVivo DC. DiMauro S, et al. Ann Neurol. 1985 Jun;17(6):521-38. doi: 10.1002/ana.410170602. Ann Neurol. 1985. PMID: 3927817 Review.
Marginal biotin deficiency is teratogenic in mice and perhaps humans: a review of biotin deficiency during human pregnancy and effects of biotin deficiency on gene expression and enzyme activities in mouse dam and fetus.
Mock DM. Mock DM. J Nutr Biochem. 2005 Jul;16(7):435-7. doi: 10.1016/j.jnutbio.2005.03.022. J Nutr Biochem. 2005. PMID: 15992686 Review.
Several lines of evidence suggest that although the degree of biotin deficiency is not severe enough to produce the classic cutaneous and behavioral manifestations of biotin deficiency, the deficiency is severe enough to produce metabolic derangements in wome …
Several lines of evidence suggest that although the degree of biotin deficiency is not severe enough to produce the classic cutaneous …
Ammonia metabolism and hyperammonemic disorders.
Walker V. Walker V. Adv Clin Chem. 2014;67:73-150. doi: 10.1016/bs.acc.2014.09.002. Epub 2014 Nov 4. Adv Clin Chem. 2014. PMID: 25735860 Review.
However, ammonia neurotoxicity is multifactorial, with disturbances also in neurotransmitters, energy production, anaplerosis, cerebral blood flow, potassium, and sodium. Around 90% of hyperammonemic patients have liver disease. Inherited defects are rare. They are being r …
However, ammonia neurotoxicity is multifactorial, with disturbances also in neurotransmitters, energy production, anaplerosis, cerebral bloo …
Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease.
Aspatwar A, Supuran CT, Waheed A, Sly WS, Parkkila S. Aspatwar A, et al. J Physiol. 2023 Jan;601(2):257-274. doi: 10.1113/JP283579. Epub 2022 Dec 19. J Physiol. 2023. PMID: 36464834 Free PMC article. Review.
The metabolic profiles of these children showed a reduced supply of HCO(3) (-) to the enzymes that take part in intermediary metabolism: carbamoylphosphate synthetase, pyruvate carboxylase, propionyl-CoA carboxylase and 3-methylcrotonyl-CoA carboxylase
The metabolic profiles of these children showed a reduced supply of HCO(3) (-) to the enzymes that take part in intermediary metabolism: car …
51 results