نتایج جستجو برای: phenylalanine hydroxylase pah
تعداد نتایج: 37877 فیلتر نتایج به سال:
To the Editor: Tetrahydrobiopterin (BH4)-responsive phenylalanine hydroxylase (PAH) deficiency is a recently recognized variant of hyperphenylalaninemia (HPA) characterized by a positive response to a BH4-loading test (1). Up to the present time, 11 different mutations have been described which are associated with mild HPA (Table 1) and all patients have been shown to be compound heterozygotes ...
Ole Andreas Andersen received hisM.Sc and Ph.D from theUniversity of Tromsø, Norway, in 1998 and 2003, respectively. His Ph.Dwork was supervised by Prof. Edward Hough and comprised crystallographic and biochemical studies on human phenylalanine hydroxylase. Andersen had a postdoctoral fellowship for one year at The Norwegian Structural Biology Centre in Tromsø under the supervision of Prof. Arn...
Phenylketonuria patients harboring a subset of phenylalanine hydroxylase (PAH) mutations have recently shown normalization of blood phenylalanine levels upon oral administration of the PAH cofactor tetrahydrobiopterin [(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin (BH4)]. Several hypotheses have been put forward to explain BH4 responsiveness, but the molecular basis for the corrective effect(s) of...
BACKGROUND The variable numbers of tandem-repeat (VNTR) alleles at the phenylalanine hydroxylase (PAH) gene have been used in carrier detection and prenatal diagnosis in phenylketonuria families. This study was carried out to analyze VNTR alleles at the PAH gene in Iranian Azeri Turkish population. METHODS In this study, 200 alleles from general population were studied by PCR. RESULTS The f...
Continued high levels of phenylalanine hydroxylase in cultured H4-II-E-C3 rat hepatoma cells require either serum or glucocorticoids in the culture medium. Upon withdrawal of serum, cellular phenylalanine hydroxylase levels decay exponentially with a half-life of 22 hours for about 60 hours, after which time a low, constant enzyme content persists for at least 96 hours. This decline of phenylal...
Maximum inhibition of phenylalanine hydroxylase activity in the liver (85%) and in the kidney (50%) of suckling rats required the administration of over 9 mumol of p-chlorophenylalanine/10g body weight. Despite the decrease in the total activity from 184 to 34 units per 10g body weight, the injection of as much as 26 mumol of phenylalanine was required for its concentration in plasma to be stil...
Tetrahydrobiopterin (BH4) responsive hyperphenylalaninemia (HPA) with a mutant phenylalanine hydroxylase (PAH) gene was found during neonatal screening for PKU. This study determined blood BH4 and phenylalanine in two patients with hyperphenylalaninemia following oral load with BH4 10 mg/kg. Our patients underwent neonatal screening for PKU, had normal biopterin metabolism and their PAH mutatio...
Some mammals hibernate in response to harsh environments. Although hibernating mammals may metabolize proteins, the nitrogen metabolic pathways commonly activated during hibernation are not fully characterized. In contrast to the hypothesis of amino acid preservation, we found evidence of amino acid metabolism as three of five key enzymes, including phenylalanine hydroxylase (PAH), homogentisat...
BACKGROUND The 5-amino acid (AA) signature, including isoleucine, leucine, valine, tyrosine, and phenylalanine, has been associated with incident diabetes mellitus and insulin resistance. We investigated whether this same AA signature, single-nucleotide polymorphisms in genes in their catabolic pathway, was associated with development of impaired fasting glucose (IFG) after atenolol treatment. ...
دو مارکر چندشکلی BglII و EcoRI در اینترون 1 و اینترون 5 ژن فنیل آلانین هیدرکسیلاز (Phenylalanine Hydroxylase, PAH)| شناخته شدند. برای آزمودن اینکه آیا این چندشکلیها به مانند آللهای خنثی عمل میکنند یا در معرض فشار انتخاب در جمعیت اصفهان قرار دارند، 110 فرد با روش PCR-RFLP تعیین ژنوتیپ گردیدند. فایل ورودی Arlequin با استفاده از اطلاعات هاپلوتیپی با فاز شناخته شده آماده شد و آزمونهای Neutralit...
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