Results 41 to 50 of about 38,679 (221)

Stabilization of Tryptophan Hydroxylase 2 by L-Phenylalanine Induced Dimerization [PDF]

, 2016
Tryptophan hydroxylase 2 (TPH2) catalyses the initial and rate‐limiting step in the biosynthesis of serotonin, which is associated with a variety of disorders such as depression, obsessive compulsive disorder, and schizophrenia.
Boesen, Jane, Christensen, Hans Erik Mølager, Harris, Pernille, Hoeck, Niclas, Peters, Günther H.J., Tidemand, Kasper Damgaard   +5 more
core   +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

Ethanol triggers grape gene expression leading to anthocyanin accumulation during berry ripening [PDF]

, 2002
Recent studies have shown that low doses of ethanol stimulate the maturation of some fruits. The present work showed that spraying Cabernet Sauvignon grapes, with 5% ethanol at veraison enhances the anthocyanin accumulation.
Chervin, Christian, El-Kereamy, Ashraf, Ford, Christopher, Mondies, Hélène, Monje, Marie-Carmen, Moutounet, Michel, Nepveu, Françoise, Roustan, Jean-Paul, Souquet, Jean-Marc, Van Heeswijck, R.   +9 more
core   +4 more sources

Harnessing Free Radical Scavenging Potential of Caffeic Acid as a Nutraceutical—A Review

Food Safety and Health, EarlyView.
Caffeic acid has emerged as a promising bioactive molecule with multiple pharmacological properties, including antioxidant, antimicrobial, anti‐inflammatory, organ protective properties and metal‐chelating ability. This review emphasizes the dietary sources, structural characteristic, molecular mechanism underlying health promoting effects of caffeic ...
Pavitra Behra, Monika Bhadauria, Satendra Kumar Nirala   +2 more
wiley   +1 more source

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

Elevated levels of plasma phenylalanine in schizophrenia: a guanosine triphosphate cyclohydrolase-1 metabolic pathway abnormality? [PDF]

PLoS ONE, 2014
BACKGROUND: Phenylalanine and tyrosine are precursor amino acids required for the synthesis of dopamine, the main neurotransmitter implicated in the neurobiology of schizophrenia.
Olaoluwa Okusaga, Olesja Muravitskaja, Dietmar Fuchs, Ayesha Ashraf, Sarah Hinman, Ina Giegling, Annette M Hartmann, Bettina Konte, Marion Friedl, Jason Schiffman, Elliot Hong, Gloria Reeves, Maureen Groer, Robert Dantzer, Dan Rujescu, Teodor T Postolache   +15 more
doaj   +1 more source

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

British Journal of Pharmacology, EarlyView.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos, Stavros Topouzis, Steve P. H. Alexander, Miriam M. Cortese‐Krott, Zsuzsanna Helyes, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Nathalie Vergnolle, Xin Wang, Stephen Ward, Péter Ferdinandy   +16 more
wiley   +1 more source

Structural features of the regulatory ACT domain of phenylalanine hydroxylase. [PDF]

PLoS ONE, 2013
Phenylalanine hydroxylase (PAH) catalyzes the conversion of L-Phe to L-Tyr. Defects in PAH activity, caused by mutations in the human gene, result in the autosomal recessively inherited disease hyperphenylalaninemia. PAH activity is regulated by multiple
Carla Carluccio, Franca Fraternali, Francesco Salvatore, Arianna Fornili, Adriana Zagari   +4 more
doaj   +1 more source

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

Association of immune response with efficacy and safety outcomes in adults with phenylketonuria administered pegvaliase in phase 3 clinical trials [PDF]

, 2018
Background: This study assessed the immunogenicity of pegvaliase (recombinant Anabaena variabilis phenylalanine [Phe] ammonia lyase [PAL] conjugated with polyethylene glycol [PEG]) treatment in adults with phenylketonuria (PKU) and its impact on safety ...
Atkinson, John P, Boyer, Ryan, Gu, Zhonghu, Gupta, Soumi, Harding, Cary O, Knight, Vijaya, Larimore, Kevin, Lau, Kelly, Li, Mingjin, Olbertz, Joy, Rosen, Orli, Shepherd, Gillian, Shweighardt, Becky, Weng, Haoling H, Zoog, Stephen J   +14 more
core   +2 more sources