Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate

AbstractRecently a novel family of putative nitric oxide synthases, with AtNOS1, the plant member implicated in NO production, has been described. Here we present experimental evidence that a mammalian ortholog of AtNOS1 protein functions in the cellular context of mitochondria. The expression data suggest that a candidate for mammalian mitochondrial nitric oxide synthase contributes to multiple physiological processes during embryogenesis, which may include roles in liver haematopoesis and bone development

Akutni jaterni porfyrie - onemocneni zpusobena vrozenymi defekty v synteze hemu.

Porphyrias are mostly inherited disorders caused by decreased activities of the enzymes in the heme biosynthetic pathway. Heme is synthesized by an orchestrated cascade of eight enzymes. Defects in these enzymes cause porphyrias, each of them characterized by a typical spectrum of accumulated and excreted porphyrins and their precursors. There are four acute porphyries, acute intermittent porphyria, hereditary coproporphyria, variegate porphyria and Doss porphyria, and all are considered to be hepatic ones. They all share a possible precipitation of acute attacks. A principal part of this thesis represents papers dealing with HC, caused by defects in the enzyme coproporphyrinogen III oxidase.Text and summary also in EnglishAvailable from STL, Prague, CZ / NTK - National Technical LibrarySIGLECZCzech Republi

Porfyrie od populacni studie a kliniky k molekularni problematice

Available from STL Prague, CZ / NTK - National Technical LibrarySIGLECZCzech Republi

Selective addressing of a novel nanotrigger to the NADPH site of the endothelial NO-Synthase and synchronous photo-initiation of the catalysis

International audienc

Only eNOS among the NOS isoforms is a nitrite reductase under hypoxia

International audienc

Parkin (PARK 2) mutations are rare in Czech patients with early-onset Parkinson's disease.

The aim of the study is to determine the frequency of parkin allelic variants in Czech early-onset Parkinson's disease patients and healthy controls.A total of 70 early-onset Parkinson's disease patients (age at onset ≤40 years) and 75 controls were screened for the sequence variants and exon rearrangements in the parkin gene.Parkin mutations were identified in five patients (7.1%): the p.R334C point mutation was present in one patient, four patients had exon deletions. The detected mutations were observed in the heterozygous state except one homozygous deletion of the exon 4. No mutations were obtained in control subjects. A novel sequence variant p.V380I (c.1138G>A) was identified in one control. Non-pathogenic polymorphisms p.S167N and p.D394N were seen in similar percentage in patients and controls, polymorphism p.V380L was almost twice as frequent in controls as in patients.Our study contributes to the growing body of evidence on the low frequency of the parkin mutations in the early-onset Parkinson's disease suggesting the potential role of other genes in the pathogenesis of the disease