Pyruvate carboxylase and phosphoenolpyruvate carboxykinase activity in leukocytes and fibroblasts from a patient with pyruvate carboxylase deficiency.
about
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivityStructure, function and regulation of pyruvate carboxylase.Biochemical studies in mitochondrial encephalomyopathy.Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency.Cerebral Gluconeogenesis and Diseases.Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis.The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and Northern blotting with a cloned cDNA probeThe molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia.The biotin-dependent carboxylase deficienciesBiotinidase deficiency: a survey of 10 casesInduction of pyruvate carboxylase apoenzyme and holoenzyme in 3T3-L1 cells during differentiationBiotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts.Organic acidurias: a review. Part 2.Transcarboxylase 5S structures: assembly and catalytic mechanism of a multienzyme complex subunitImprovement of the primary metabolism of cell cultures by introducing a new cytoplasmic pyruvate carboxylase reaction.Pyruvate and acetate oxidation by leukocytes in vitro. Activation of the pyruvate dehydrogenase complex by uncoupling of oxidative phosphorylation.Regulation of pyruvate carboxylase in 3T3-L1 cellsRat liver pyruvate carboxylase. Purification, detection and quantification of apo and holo forms by immuno-blotting and by an enzyme-linked immunosorbent assay.Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families.
P2860
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P2860
Pyruvate carboxylase and phosphoenolpyruvate carboxykinase activity in leukocytes and fibroblasts from a patient with pyruvate carboxylase deficiency.
description
1979 nî lūn-bûn
@nan
1979年の論文
@ja
1979年論文
@yue
1979年論文
@zh-hant
1979年論文
@zh-hk
1979年論文
@zh-mo
1979年論文
@zh-tw
1979年论文
@wuu
1979年论文
@zh
1979年论文
@zh-cn
name
Pyruvate carboxylase and phosp ...... ruvate carboxylase deficiency.
@en
Pyruvate carboxylase and phosp ...... ruvate carboxylase deficiency.
@nl
type
label
Pyruvate carboxylase and phosp ...... ruvate carboxylase deficiency.
@en
Pyruvate carboxylase and phosp ...... ruvate carboxylase deficiency.
@nl
prefLabel
Pyruvate carboxylase and phosp ...... ruvate carboxylase deficiency.
@en
Pyruvate carboxylase and phosp ...... ruvate carboxylase deficiency.
@nl
P2093
P1433
P1476
Pyruvate carboxylase and phosp ...... ruvate carboxylase deficiency.
@en
P2093
P356
10.1203/00006450-197901000-00009
P407
P577
1979-01-01T00:00:00Z
P5875
P6179
1006791517