Results 21 to 30 of about 38,679 (221)

Biopterin responsive phenylalanine hydroxylase deficiency [PDF]

Genetics in Medicine, 2004
Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene. There have been more than 400 mutations identified in the PAH gene leading to variable degrees of deficiency in PAH activity, and consequently a wide spectrum of clinical severity.
Reuben, Matalon, Richard, Koch, Kimberlee, Michals-Matalon, Kathryn, Moseley, Sankar, Surendran, Stephen, Tyring, Heidi, Erlandsen, Alejandra, Gamez, Raymond C, Stevens, Anne, Romstad, Lisbeth B, Møller, Flemming, Guttler   +11 more
openaire   +2 more sources

Dynamic regulation of phenylalanine hydroxylase by simulated redox manipulation.

PLoS ONE, 2012
Recent clinical studies revealed increased phenylalanine levels and phenylalanine to tyrosine ratios in patients suffering from infection, inflammation and general immune activity.
Julian E Fuchs, Roland G Huber, Susanne von Grafenstein, Hannes G Wallnoefer, Gudrun M Spitzer, Dietmar Fuchs, Klaus R Liedl   +6 more
doaj   +1 more source

Liver phenylalanine hydroxylase assay [PDF]

Biochemical Medicine, 1976
The first reaction is catalyzed by phenylalanine hydroxylase and the second reaction, which generates the reduced form of pteridine cofactor (biopterin), is catalyzed by dihydropteridine reductase (l-3). A direct assay of phenylalanine hydroxylase can be achieved by supplying optimal concentrations of reduced pteridine cofactor or an analog of the ...
openaire   +3 more sources

Use of sapropterin in Mexican patients with yperphenylalaninemia

Acta Pediátrica de México, 2014
Hyperphenylalaninemia is caused by deficient enzyme activity of phenylalanine hydroxylase. It was one of the first genetic disorders susceptible to treatment with a natural protein restricted diet for life.
Susana Monroy-Santoyo, Leticia Belmont-Martínez, Cynthia Fernández-Lainez   +2 more
doaj   +1 more source

Phenylalanine 4-Hydroxylase Contributes to Endophytic Bacterium Pseudomonas fluorescens’ Melatonin Biosynthesis

Frontiers in Genetics, 2021
Melatonin acts both as an antioxidant and as a growth regulatory substance in plants. Pseudomonas fluorescens endophytic bacterium has been shown to produce melatonin and increase plant resistance to abiotic stressors through increasing endogenous ...
Jian Jiao, Jian Jiao, Yan Xia, Yingli Zhang, Xueli Wu, Chonghuai Liu, Jiancan Feng, Xianbo Zheng, Shangwei Song, Tuanhui Bai, Chunhui Song, Miaomiao Wang, Hongguang Pang   +12 more
doaj   +1 more source

Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism [PDF]

, 2017
Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia
Andolina, Diego, Colamartino, Marco, DE ANGELIS, Federica, DE JACO, Antonella, Favaloro, FLORES LIETTA, Fiori, Elena, Mango, Dalila, Nistico', ROBERT GIOVANNI, Pascucci, Tiziana   +8 more
core   +2 more sources

Incidence of Phenylketonuria in Southern Iran [PDF]

Iranian Journal of Medical Sciences, 2010
Background: Phenylketonuria is a hereditary, autosomal recessivedisorder caused by deficiency of phenylalanine hydroxylaseor its cofactor tetrahydrobiopterin.
Asadollah Habib, Mohammad Hossein Fallahzadeh, Hamid Reza Kazeroni, Amir Hossein Ganjkarimi   +3 more
doaj  

Investigation of five common mutations on Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from Two Provinces in North of Iran

International Journal of Preventive Medicine, 2017
Background: There are more than 500 different mutations on phenylalanine hydroxylase (PAH) gene that is responsible for phenylketonuria (PKU) diseases and the spectrum of these mutations is varied in different populations. The main clinical manifestation
Daniel Zamanfar, Hossein Jalali, Mohammad Reza Mahdavi, Morteza Maadanisani, Hossein Zaeri, Eynollah Asadpoor   +5 more
doaj   +1 more source

Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria [PDF]

, 2018
We studied group-I metabotropic glutamate (mGlu) receptors in Pah(enu2) (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID ...
Battaglia, Giuseppe, Colamartino, Marco, Di Menna, Luisa, Fiori, Elena, Iacovelli, Luisa, Leuzzi, Vincenzo, Nardecchia, Francesca, Nicoletti, Ferdinando, Nistico, Robert, Orlando, Rosamaria, Pascucci, Tiziana, Piccinin, Sonia, Puglisi-Allegra, Stefano   +12 more
core   +2 more sources

Control of anthocyanin biosynthesis pathway gene expression by eutypine, a toxin from Eutypa lata, in grape cell tissue cultures [PDF]

, 2003
Eutypine, 4-hydroxy-3-(3-methyl-3-butene-1-ynyl) benzaldehyde, is a toxin produced by Eutypa lata, the causal agent of Eutypa dieback in grapevine. The effect of the toxin on anthocyanin synthesis has been investigated in Vitis vinifera cv.
Afifi, Maha, Chervin, Christian, El-Kereamy, Ashraf, Legrand, Valérie, Monje, Marie-Carmen, Nepveu, Françoise, Roustan, Jean-Paul   +6 more
core   +4 more sources