background: the haplotype phasing is more useful than genotyping markers independently at carrier detection and prena­tal diagnosis of diseases. the pah gene region contains several markers used in detection of pku disease. in the present study, the efficiency of bgl ii- ecor i-vntr haplotype phasing in iranian family trios was investigated. then, this informa­tion was compared with those obtai...

neuromelanin (nm) pigment accumulates with age in catecholaminergic neurons in man, and the ventral substantia nigra dopaminergic neurons that are the most vulnerable to degeneration in parkinson's disease (pd) contain the greatest amount of this pigment. in vitro data indicate that nm pigment is formed from the excess cytosolic catecholamine that is not accumulated into synaptic vesicles via t...

N-Glycolylneuraminic acid (NeuGc) is abundantly expressed in most mammals, but it is not detectable in humans. The expression of NeuGc is controlled by cytidine monophospho-N-acetylneuraminic acid (CMP-NeuAc) hydroxylase activity. We previously cloned a cDNA for mouse CMP-NeuAc hydroxylase and found that the human genome contains a homologue. We report here the molecular basis for the absence o...

abstract objective : in this study, we have undertaken efforts to ascertain the anticancer potency of s. crispus (sc) extract on diethylnitrosamine (den) and acetylaminofluorene (aaf) induced hcc with special attention to hepatic drug metabolism and to investigate the effect of sc on preneoplastic marker enzyme activity specifically of microsomal aniline hydroxylase (ah) activity and lesion sco...

background: phenylketonuria (pku) is an autosomal recessive disease of phenylalanine metabolism that brings deficiency of the enzyme phenylalanine hydroxylase (pah). early diagnosis is very important to prevent complications. this study was designed to describe characteristics of patients with phenylketonuria in mazandaran province in northern iran. methods: we studied 24 cases suffering from p...

We have investigated the p-chlorophenylalanine-dependent loss of phenylalanine hydroxylase activity in cultured hepatoma cells. The similarity of the effect of p-chlorophenylalanine on phenylalanine hydroxylase in the hepatoma cells and that reported from studies in vivo indicates that the loss of phenylalanine hydroxylase activity is due to a direct interaction of the amino acid analogue with ...

Using a cDNA probe for rat renal 24-hydroxylase, expression of its mRNA was compared in the rat kidney and intestine. Vitamin D-deficient rats received a single injection of 1 alpha,25-dihydroxyvitamin D3. Expression of 24-hydroxylase mRNA was first detected in the kidney at 3-h post-injection and increased thereafter. Similarly, 24-hydroxylase mRNA was expressed in the intestine after 1 alpha,...

The basic properties of estradiol 2-hydroxylase in rat brain microsomes were studied and compared to the known characteristics of rat liver microsomal estradiol 2-hydroxylase. Rat liver microsomal estradiol 2-hydroxylase, which has been considered to be a cytochrome P450-like enzyme, was largely inhibited by carbon monoxide. On the other hand, the effect of carbon monoxide on the activity of ra...

A full-length human phenylalanine hydroxylase cDNA has been recombined with a prokaryotic expression vector and introduced into Escherichia coli. Transformed bacteria express phenylalanine hydroxylase immunoreactive protein and pterin-dependent conversion of phenylalanine to tyrosine. Recombinant human phenylalanine hydroxylase produced in E. coli has been partially purified, and biochemical st...

Anthocyanins, Flavonoids, Biosynthesis, Flavanon 3-Hydroxylase, Flavonoid 3'-Hydroxylase, Matthiola incana Enzyme preparations from flowers of defined genotypes o f Matthiola incana contain two dif­ ferent hydroxylases for hydroxylation of naringenin in the 3and 3'-position, respectively. The 3-hydroxylase is a soluble enzyme and requires as cofactors 2-oxoglutarate, Fe2+ and ascorbate. Besides...