Results 61 to 70 of about 178,348 (314)

The analysis of the phenylalanine hydroxylase gene mutations by sequencing and ARMS techniques in Turkish patients

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2016
Purpose: Phenylketonuria is an autosomal recessive deficiency of the hepatic enzyme phenylalanine hydroxylase. With this study, detection of the most frequent phenylalanine hydroxylase gene mutations in Turkish population is aimed. Material and Methods:
Umit Luleyap, Percin Pazarci, Gamze Comertpay, Halise Neslihan Onenli, Ayfer Pazarbasi, Davut Alptekin, Halil Kasap, Ursula Froster   +7 more
doaj   +1 more source

Strategies for Successful Long-Term Engagement of Adults With Phenylalanine Hydroxylase Deficiency Returning to the Clinic:

, 2017
Nearly half of all patients diagnosed with phenylalanine hydroxylase (PAH) deficiency, also known as phenylketonuria, are lost to follow-up (LTFU); most are adults who stopped attending clinic afte...
J. Thomas, M. Nguyen-Driver, H. Bausell, J. Breck, J. Zambrano, V. Birardi   +5 more
semanticscholar   +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   +4 more sources

The Amino Acid Specificity for Activation of Phenylalanine Hydroxylase Matches the Specificity for Stabilization of Regulatory Domain Dimers

Biochemistry, 2015
Liver phenylalanine hydroxylase is allosterically activated by phenylalanine. The structural changes that accompany activation have not been identified, but recent studies of the effects of phenylalanine on the isolated regulatory domain of the enzyme ...
Shengnan Zhang, A. Hinck, P. Fitzpatrick
semanticscholar   +1 more source

ThiF‐Like Enzyme Chemistry in Primary and Secondary Metabolism

ChemBioChem, EarlyView.
ThiF‐like enzymes are a widespread protein family found in disparate biosynthetic pathways. They are unified by their use of an NTP to modify a carboxylate, generating an activated species prone to nucleophilic addition. This common intermediate is then targeted by diverse nucleophiles, including persulfide or amino acid side chains, to yield a variety
Keelie S. Butler, Anshul Rajput, Jonathan R. Chekan   +2 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Hyperphenylalaninemia and serotonin deficiency in Dnajc12-deficient mice

Communications Biology
Serotonin exerts numerous neurological and physiological actions in the brain and in the periphery. It is generated by two different tryptophan hydroxylase enzymes, TPH1 and TPH2, in the periphery and in the brain, respectively, which are members of the ...
Yunqing Cao, Oliver Popp, Niccolo Milani, Fatimunnisa Qadri, Ralf Kühn, Philipp Mertins, Michael Bader, Natalia Alenina   +7 more
doaj   +1 more source

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

Genetics in Medicine, 2014
The effectiveness of a phenylalanine-restricted diet to improve the outcome of individuals with phenylalanine hydroxylase deficiency (OMIM no. 261600) has been recognized since the first patients were treated 60 years ago.
Rani H. Singh, F. Rohr, D. Frazier, A. Cunningham, S. Mofidi, B. Ogata, P. Splett, K. Moseley, K. Huntington, P. Acosta, J. Vockley, S. V. van Calcar   +11 more
semanticscholar   +1 more source

Bioactive Compounds Derived From Natural Foods Against Metabolic Syndrome and the Advances of Resveratrol and Caffeic Acid in Microbial Cell Factory Production: A Review

Food Frontiers, EarlyView.
Metabolic syndrome is characterized by abdominal obesity, hyperglycemia, dyslipidemia, and hypertension. Bioactive compounds extracted from herbs, tea, and coffee using microbial cell factories, particularly resveratrol and caffeic acid, have demonstrated remarkable potential in the management of metabolic syndrome, offering innovative solutions for ...
Tao Li, Jingjing Shi, Tao Liu, Chongxiang Xue, Lin Han, Mingzhe Zhang, Linhua Zhao, Xiaolin Tong   +7 more
wiley   +1 more source

Mutation Analysis of PAH Gene in Phenylketonuria Patients from the North of Iran: Identification of Three Novel Pathogenic Variants

International Journal of Preventive Medicine
Background: There are more than 1100 different pathogenic variants in the phenylalanine hydroxylase (PAH) gene that are responsible for phenylketonuria (PKU) diseases, and the spectrum of these mutations varies in different ethnic groups.
Hossein Jalali, Daniel Zamanfar, Muhammad Amirzadegan, Farshide Ghadami, Mahan Mahdavi, Mohammad Reza Mahdavi   +5 more
doaj   +1 more source