Results 271 to 280 of about 141,799 (322)

Pyruvate carboxylase deficiency

Journal of Inherited Metabolic Disease, 1984
AbstractThe causes of congenital lactic acidaemia are outlined. Isolated pyruvate carboxylase deficiency is reviewed in detail with a report of a recent case and a discussion of the biochemical consequences. Other causes of defective pyruvate carboxylation are described, particularly the combined carboxylase defects.
K, Bartlett, H K, Ghneim, J H, Stirk, G, Dale, K G, Alberti   +4 more
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Substrate activation of pyruvate carboxylase by pyruvate

Biochemical and Biophysical Research Communications, 1969
Abstract A kinetic analysis of pyruvate carboxylase isolated from sheep liver and using pyruvate as the variable substrate revealed non-Michaelis Menten kinetic. Double reciprocal plots were biphasic and R S values of 222 were obtained. Hill plots prepared from the initial velocity data showed that at low pyruvate concentrations, the slope of the ...
H, Taylor, J, Nielsen, D B, Keech
openaire   +2 more sources

Pyruvate Carboxylase Variants Enabling Improved Lysine Production from Glucose Identified by Biosensor-Based High-Throughput Fluorescence-Activated Cell Sorting Screening.

ACS Synthetic Biology, 2019
Pyruvate carboxylase is an anaplerotic carbon dioxide-fixing enzyme replenishing the tricarboxylic acid cycle with oxaloacetate during growth on sugars.
Maike Kortmann, C. Mack, M. Baumgart, M. Bott   +3 more
semanticscholar   +1 more source

Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex

Journal of Inherited Metabolic Disease, 1996
SummaryThe 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, N, MacKay, K, Chun, M, Ling   +3 more
openaire   +2 more sources

Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency

Prenatal Diagnosis, 2018
Pyruvate dehydrogenase deficiency (PDHD) and pyruvate carboxylase deficiency (PCD) are diseases with severe neonatal forms, and their low prevalence makes them difficult to diagnose during pregnancy.
C. Egloff, Aurelia Eldin de Pecoulas, C. Mechler, M. Tassin, V. Mairovitz, Frederic Corrizi, C. Dussaux, A. Boutron, I. Simon, A. Guet, J. Sibiude, L. Mandelbrot, O. Picone   +12 more
semanticscholar   +1 more source

Pyruvate carboxylase in genetic obesity

American Journal of Physiology-Endocrinology and Metabolism, 1992
Immunoblotting and protein microsequencing were used to identify several adipocyte proteins expressed in an obesity-related fashion in the Zucker rat. One of these was a 116-kDa particulate protein (p116). The p116 levels in adipocytes from 5- to 7-wk-old obese Zucker rats were two- to fivefold higher on a per milligram of protein basis than levels in ...
C J, Lynch, K M, McCall, M L, Billingsley, L M, Bohlen, S P, Hreniuk, L F, Martin, L A, Witters, S J, Vannucci   +7 more
openaire   +2 more sources

Decarboxylation of oxalacetate by pyruvate carboxylase

Biochemistry, 1986
The decarboxylation of oxalacetate by pyruvate carboxylase in the absence of ADP and Pi is stimulated 400-fold by the presence of oxamate, which is an inhibitory analogue of pyruvate. The observation of substrate inhibition when either oxamate or oxalacetate is varied at a fixed concentration of the other indicates that both molecules bind at the same ...
P V, Attwood, W W, Cleland
openaire   +2 more sources

On the Intracellular Location of Pyruvate Carboxylase

1971
Summary The concept of the exclusive location of pyruvate carboxylase in mitochondria is based upon the analysis of a subcellular fraction representing a mixture of fragments, and on the exclusion of a cytoplasmic location of this enzyme. Preferential extraction of pyruvate carboxylase – as compared to glutamate dehydrogenase – with isotonic ...
G, Weiss, B, Ohly, H, Brod, W, Seubert
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Pyruvate carboxylase: Affinity labelling of the pyruvate binding site

Biochemical and Biophysical Research Communications, 1975
Abstract The active-site-directed reagent, bromopyruvate has been used to covalently label the pyruvate binding site of pyruvate carboxylase (E.C.6.4.1.1.) isolated from sheep liver. Oxalo-acetate proved to be the most effective reaction component in protecting the enzyme against inactivation; pyruvate was less effective although its efficiency was ...
P J, Hudson, D B, Keech, J C, Wallace
openaire   +2 more sources

Pyruvate Carboxylase Deficiency

1995
Pyruvate carboxylase (PC) deficiency is a rare disorder with autosomal recessive inheritance. Generally, two clinical and biochemical phenotypes of isolated PC deficiency can be distinguished. The so-called French phenotype presents in the neonatal period with severe lactic acidemia and is clinically characterized by failure to thrive, anorexia ...
Marjo S. van der Knaap, Jacob Valk
openaire   +1 more source