Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Alena Leroux"'
Publikováno v:
Blood. 85:2254-2262
Recessive congenital methemoglobinemia (RCM) due to NADH-cytochrome b5 reductase (cytb5r) deficiency leads to two different types of diseases. In the type I form, cyanosis is the only symptom, and the soluble enzyme is defective in red blood cells. I
Publikováno v:
European Journal of Biochemistry. 220:729-737
In order to understand the mechanisms responsible for the generation of different isoforms (membrane-bound and soluble) of NADH-cytochrome b5 reductase, and the different clinical forms of recessive congenital methemoglobinemia due to the deficiency
Publikováno v:
European journal of haematology. 74(5)
A case of type II recessive congenital methaemoglobinaemia (RCM) observed in a Lebanese subject with a novel mutation in NADH-cytochrome b5 reductase gene is described. A homozygous mutation CAC to AA identified at Thr 295 with an out-of-frame 1-bp d
Autor:
J. C. Kaplan, Claudine Junien, André Boué, Joëlle Boué, D. Lostanlen, H. Nicolas, Alena Leroux, A. Reghis
Publikováno v:
Prenatal Diagnosis. 1:17-24
Prenatal diagnosis of congential enzymopenic methaemoglobinaemia (CEM) with mental retardation was performed in two fetuses at risk for generalized NADH-cytochrome b5 reductase deficiency. In the first case the enzyme activity of cultured amniotic ce
Autor:
Irving M. London, Alena Leroux
Publikováno v:
Proceedings of the National Academy of Sciences. 79:2147-2151
Studies in intact rabbit reticulocytes and reticulocyte lysates provide further evidence of a functional role for the phosphorylation of eukaryotic initiation factor 2 alpha (eIF-2 alpha) in the regulation of initiation of protein synthesis in eukary
Autor:
Labie D, A. Mast, R. Krishnamoorthy, C. Junien, R. Milo, J.C. Kaplan, Wajcman H, Alena Leroux
Publikováno v:
Acta Haematologica. 56:174-182
Three brothers with congenital recessive methaemoglobinaemia without mental retardation were found to be homozygous for NADH diaphorase deficiency. Twelve family members were heterozygous. One of the
Publikováno v:
Proceedings of the National Academy of Sciences. 77:1286-1290
The site specificity of phosphorylation of the α subunit of eukaryotic initiation factor 2 (eIF-2α) by the heme-regulated and double-stranded RNA-activated eIF-2α kinases were compared by phosphopeptide mapping. eIF-2α was maximally phosphorylate
Publikováno v:
Biochimica et biophysica acta. 526(1)
A soluble form of NADH-cytochrome b5 reductase (NADH: ferricytochrome b5 oxidoreductase, EC 1.6.2.2) was found in the cytosolic fraction of rabbit liver. The partially purified enzyme was strictly specific for NADH. It catalyzed the reduction of seve
Publikováno v:
Biochimica et biophysica acta. 481(1)
In congenital methemoglobinemia associated with mental retardation a generalized deficiency of NADH-cytochrome beta 5 reductase (NADH : ferricytochrome beta 5 oxidoreductase, EC 1.6.2.2) has been found in soluble extracts of red blood cells, as well