Results 31 to 40 of about 39,051 (241)

In Vivo Studies of Phenylalanine Hydroxylase by Phenylalanine Breath Test: Diagnosis of Tetrahydrobiopterin-Responsive Phenylalanine Hydroxylase Deficiency [PDF]

Pediatric Research, 2004
Tetrahydrobiopterin (BH4)-responsive phenylalanine hydroxylase (PAH) deficiency is characterized by reduction of blood phenylalanine level after a BH4-loading test. Most cases of BH4-responsive PAH deficiency include mild phenylketonuria (PKU) or mild hyperphenylalaninemia (HPA), but not all patients with mild PKU respond to BH4.
Yoshiyuki, Okano, Yutaka, Hase, Mie, Kawajiri, Yasuaki, Nishi, Koji, Inui, Norio, Sakai, Yoko, Tanaka, Kazuhiko, Takatori, Masahiro, Kajiwara, Tsunekazu, Yamano   +9 more
openaire   +2 more sources

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

Molecular phenotyping of the pal1 and pal2 mutants of Arabidopsis thaliana reveals far-reaching consequences on phenylpropanoid, amino acid, and carbohydrate metabolism [PDF]

, 2004
The first enzyme of the phenylpropanoid pathway, Phe ammonia-lyase (PAL), is encoded by four genes in Arabidopsis thaliana. Whereas PAL function is well established in various plants, an insight into the functional significance of individual gene family ...
Boerjan, Wout, De Rycke, Riet, Goeminne, Geert, Hostyn, Vanessa, Joseleau, Jean-Paul, Kushnir, Sergei, Messens, Eric, Morreel, Kris, Ralph, John, Rohde, Antje, Van Beeumen, Jozef, Van Doorsselaere, Jan, Van Driessche, Gonzalez, Vuylsteke, Marnik   +13 more
core   +3 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

Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients

Journal of Inborn Errors of Metabolism and Screening, 2019
Phenylketonuria (PKU, OMIM 261600) is predominantly caused by mutations in the PAH gene. One hundred and three Argentine PKU patients were studied by Sanger sequencing; 101 were completely characterized (90.3% were compound heterozygotes).
Rosa E. Enacán, Mariana Nuñez Miñana, Luis Fernandez, Maria Gabriela Valle, Mercedes Salerno, Claudia I. Fraga, Fernando Santos-Simarro, Laura Prieto, Pablo Lapunzina, Norma Specola, Ana Elena Chiesa   +10 more
doaj   +1 more source

The aromatic amino acid hydroxylase genes AAH1 and AAH2 in Toxoplasma gondii contribute to transmission in the cat [PDF]

, 2017
The Toxoplasma gondii genome contains two aromatic amino acid hydroxylase genes, AAH1 and AAH2 encode proteins that produce L-DOPA, which can serve as a precursor of catecholamine neurotransmitters.
Dubey, Jitender P, Sibley, L. David, Verma, Shiv K, Wang, Zi T   +3 more
core   +6 more sources

Unexpected evolutionary proximity of eukaryotic and cyanobacterial enzymes responsible for biosynthesis of retinoic acid and its oxidation [PDF]

, 2014
Biosynthesis of retinoic acid from retinaldehyde (retinal) is catalysed by an aldehyde dehydrogenase (ALDH) and its oxidation by cytochrome P450 enzymes (CYPs).
Gallagher, Connor, Marsh, Andrew, Millard, Andrew D., Scanlan, David J., Taylor, Paul C.   +4 more
core   +1 more source

Disturbed amino acid metabolism in HIV: association with neuropsychiatric symptoms

Frontiers in Psychiatry, 2015
Blood levels of the amino acid phenylalanine, as well as of the tryptophan breakdown product kynurenine, are found to be elevated in human immunodeficiency virus type 1 (HIV-1)-infected patients.
Johanna M Gostner, Kathrin eBecker, Katharina eKurz, Dietmar eFuchs   +3 more
doaj   +1 more source

Engineered Escherichia coli platforms for tyrosine-derivative production from phenylalanine using phenylalanine hydroxylase and tetrahydrobiopterin-regeneration system

Biotechnology for Biofuels and Bioproducts, 2023
Background Aromatic compounds derived from tyrosine are important and diverse chemicals that have industrial and commercial applications. Although these aromatic compounds can be obtained by extraction from natural producers, their growth is slow, and ...
Yasuharu Satoh, Keita Fukui, Daisuke Koma, Ning Shen, Taek Soon Lee   +4 more
doaj   +1 more source

Molecular diagnosis of phenylketonuria: From defective protein to disease-causing gene mutation [PDF]

Journal of Medical Biochemistry, 2009
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism, with an average incidence of 1/10000 in Caucasians. PKU is caused by more than 500 mutations in the phenylalanine hydroxylase gene (PAH) which result in phenylalanine ...
Pavlović Sonja, Stojiljković Maja
doaj