Results 81 to 90 of about 178,348 (314)

Chronic Immune Stimulation May Cause Moderate Impairment of Phenylalanine 4-hydroxylase

Pteridines, 2011
Phenylalanine (4)-hydroxylase (PAH, E.C. 1.14.16.1) is located mainly in liver and converts amino acid phenylalanine (Phe) to tyrosine (Tyr). In 'classical' phenylketonuria (PKU), PAH activity is reduced, whereas in 'atypical' PKU biosynthesis of the ...
Scholl-Bürgi S, Schroecksnadel S, Jenny M, Karall D, Fuchs D   +4 more
doaj   +1 more source

Coenzyme Q10 deficiencies: pathways in yeast and humans. [PDF]

, 2018
Coenzyme Q (ubiquinone or CoQ) is an essential lipid that plays a role in mitochondrial respiratory electron transport and serves as an important antioxidant.
Awad, Agape M, Bradley, Michelle C, Clarke, Catherine F, Fernández-Del-Río, Lucía, Nag, Anish, Tsui, Hui S   +5 more
core  

Identification and characterization of the PhhR regulon in Pseudomonas putida [PDF]

, 2010
Pseudomonas putida is a soil microorganism that utilizes aromatic amino acids present in root exudates as a nitrogen source. We have previously shown that the PhhR transcriptional regulator induces phhAB genes encoding a phenylalanine hydroxylase.
Duque, Estrella, Fernandez Escamilla, Ana, Herrera, Carmen, Ramos, Juan Luis, Rodríguez Herva, Jose Juan   +4 more
core   +2 more sources

Exploring Raman Spectroscopy as a Detection Tool for Cardiovascular Diseases and Diabetes Mellitus in Fingernails

Journal of Raman Spectroscopy, EarlyView.
Endogenous constituents vary between fingernails of healthy, cardiovascular and diabetic participants. Raman spectroscopy yields a biochemical fingerprint of key endogenous constituents and disease‐related biomarkers. Combined with machine learning algorithms, Raman spectroscopy can classify healthy, cardiovascular and diabetic based on their Raman ...
Megan Wilson, Dhiya Al‐Jumeily, Leung Tang, Jason Birkett, Iftikhar Khan, Ismail Abbas, Matthew Harper, Sulaf Assi   +7 more
wiley   +1 more source

PAH and QDPR deficiency associated mutations in the Novosibirsk region of the Russian Federation: Correlation of mutation type with disease manifestation and severity [PDF]

Journal of Medical Biochemistry, 2014
Background: Efficient treatment of inherited hyperphenylalaninemia requires exact identification of mutations defining the trait. Such knowledge is important both for effective individual therapy and understanding of the genetic history and evolution of ...
Baturina Olga A., Tupikin Alexey E., Lukjanova Tatyana V., Sosnitskaya Svetlana V., Morozov Igor V.   +4 more
doaj  

Microarray analysis of spring barley cultivars displaying differing sensitivity to physiological leaf spot (PLS) [PDF]

, 2015
peer-reviewedPhysiological leaf spot (PLS) is a disorder of spring barley (Hordeum vulgare L.), which has become more pronounced in recent years. The initial symptoms are small chlorotic/brown spots on the upper four leaves, which may develop into ...
Burke, James I., Dix, Philip J., Moran, Mary G.   +2 more
core   +1 more source

Prenatal Metabolomics Analysis and Fetal Congenital Anomalies and Genetic Conditions: A Review of Current Literature

Prenatal Diagnosis, EarlyView.
ABSTRACT Fetal congenital anomalies and genetic disorders complicate 3%–5% of pregnancies and can have a significant impact on pregnancy outcomes. Precise and individualized prenatal diagnosis is crucial for effective counseling and management.
Sarah Araji, Onur Turkoglu, Mohamad Ali Maktabi, Tracy Ashby, Ignatia B. Van den Veyver   +4 more
wiley   +1 more source

Immune activation and inflammation in patients with cardiovascular disease are associated with elevated phenylalanine-to-tyrosine ratios

Pteridines, 2013
Higher serum neopterin concentrations and kynurenine-to-tryptophan (Kyn/Trp) ratios are associated with increased mortality in patients with coronary artery disease (CAD). Preferentially, Th1-type cytokine interferon-γ stimulates tryptophan breakdown and
Mangge Harald, Schnedl Wolfgang J., Schröcksnadel Sebastian, Geisler Simon, Murr Christian, Fuchs Dietmar   +5 more
doaj   +1 more source

Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough?

Clinics and Practice, 2011
Phenylketonuria is caused by mutations in the enzyme phenylalanine hydroxylase gene, that can result in abnormal concentrations of phenylalanine on blood, resulting in metabolites that can cause brain damage. The treatment is based on dietary restriction
Mayara Thays Beckhauser, Mirella Maccarini Peruchi, Gisele Rozone de Luca, Katia Lin, Sofia Esteves, Laura Vilarinho, Jaime Lin   +6 more
doaj   +1 more source

Serum prolactin as a biomarker for the study of intracerebral dopamine effect in adult patients with phenylketonuria: a cross-sectional monocentric study [PDF]

, 2016
BACKGROUND: It has been previously postulated that high phenylalanine (Phe) might disturb intracerebral dopamine production, which is the main regulator of prolactin secretion in the pituitary gland.
AB Burlina, C Landvogt, CM McKean, D Vliet van, D Vliet van, F Güttler, FJ Spronsen van, HC Curtius, HE Carlson, HE Carlson, J Denecke, J Weglage, KD Wang, KH Schulpis, M Spada, M Velema, MJ Groot de, N Ben-Jonathan, N Blau, W Krause   +19 more
core   +2 more sources