Results 41 to 50 of about 23,946 (202)
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social interaction, restricted interests, and repetitive behaviors. In addition to these core behavioral symptoms, gastrointestinal (GI) disorders are frequently reported, ranging from severe constipation to diarrhea.
Baptiste Ganachaud +9 more
wiley +1 more source
Mechanism of phenylalanine regulation of phenylalanine hydroxylase.
The mechanism of phenylalanine regulation of rat liver phenylalanine hydroxylase was studied. We show that phenylalanine "activates" phenylalanine hydroxylase, converting it from an inactive to active form, by binding at a true allosteric regulatory site.
R, Shiman, S H, Jones, D W, Gray
openaire +2 more sources
Inherited metabolic epilepsies–established diseases, new approaches
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
Elevated levels of plasma phenylalanine in schizophrenia: a guanosine triphosphate cyclohydrolase-1 metabolic pathway abnormality? [PDF]
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 +15 more
doaj +1 more source
Abstract Background Seed shattering limits the production of Elymus sibiricus L., and application of exogenous brassinosteroid significantly alleviates plant organ abscission. Methods To explore the potential regulatory network of brassinosteroid on seed shattering, the abscission zone of E. sibiricus cv. Lanyu No.
Huanhuan Lu +6 more
wiley +1 more source
Binuclear Copper‐Dependent Oxidative Enzymes Involved in Fungal Natural Product Modifications
This article summarizes recent biochemical characterizations of a new enzyme family named by the authors as binuclear copper‐dependent oxidative enzymes (BiNCOs). Found in fungal natural product biosynthesis, BiNCOs catalyze diverse CH functionalization reactions, including C(sp3)H halogenation, C(sp3)H hydroxylation, C(sp3)O macrocyclization, and ...
Chen‐Yu Chiang, Masao Ohashi, Yi Tang
wiley +1 more source
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 +5 more
doaj +1 more source
High Protein Diet and Phenylalanine Hydroxylase Activities in Rats
The effects of a diet of 85% casein on the activities of the phenylalanine hydroxylases of rat liver and kidney have been compared. Whereas only the tetrahydrobiopterin-dependent activity of rat hepatic phenylalanine hydroxylase is significantly ...
Carty Michael P. +2 more
doaj +1 more source
Caffeic acid is a central metabolite in the fungal bioluminescence pathway. We identified and characterized caffeylpyruvate hydrolase from Neonothopanus gardneri (ngarCPH) and demonstrate its ability to hydrolyze fungal oxyluciferin into caffeic and pyruvic acids, confirming a complete and self‐sustained fungal bioluminescence cycle.
Caio K. Zamuner +8 more
wiley +1 more source
Biopterin responsive phenylalanine hydroxylase deficiency [PDF]
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 +11 more
openaire +2 more sources

