Results 71 to 80 of about 32,654 (265)

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  

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

Phenylalanine iminoboronates as new phenylalanine hydroxylase modulators

RSC Adv., 2014
Herein we report the discovery of new modulators of human phenylalanine hydroxylase (hPAH) inspired by the structure of its substrate and regulatorl-phenylalanine.
Rita C. Guedes, Gonçalo D. V. F. Farias, Paulo R. Lino, Francesco Montalbano, Paula Leandro, João Leandro, Pedro M. P. Gois, João B. Vicente   +7 more
openaire   +2 more sources

Stress in dipteran insects mass‐reared for sterile insect technique applications

Insect Science, EarlyView.
The connections between biotic and abiotic stress affecting mass‐reared dipteran insects and the associated stress and immunological responses. Numbers indicate the order in which the topics are discussed in this review. Abstract Stress may be viewed as the disturbance of homeostasis of an organism.
Caroline K. Mirieri, Vera I.D. Ros, Adly M.M. Abd‐Alla, Monique M. van Oers   +3 more
wiley   +1 more source

p-Cresyl sulfate [PDF]

, 2017
If chronic kidney disease (CKD) is associated with an impairment of kidney function, several uremic solutes are retained. Some of these exert toxic effects, which are called uremic toxins.
Glorieux, Griet, Gryp, Tessa, Vaneechoutte, Mario, Vanholder, Raymond   +3 more
core   +3 more sources

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

In vivo and in silico models of Drosophila for Parkinson's disease

The FEBS Journal, EarlyView.
In vivo and in silico models of Drosophila offer valuable advantages in the generation, analysis, and interpretation of complex biological data, thereby significantly advancing our understanding of Parkinson's disease. Molecular‐level measurements and phenotypic data from Drosophila are extensively utilised in metabolic network modeling and artificial ...
Müberra Fatma Cesur, Rachel Strazdins, Souvarish Sarkar, Tunahan Çakır   +3 more
wiley   +1 more source

The toxic effects of meta‐tyrosine are related to its misincorporation into the proteome and to altered metabolism in cyanobacteria

The FEBS Journal, EarlyView.
This study reveals that meta‐tyrosine (m‐Tyr), a nonproteinogenic analog of aromatic amino acids, disrupts protein synthesis and photosynthesis in cyanobacteria by being misincorporated by Phenylalanyl‐tRNA synthetase (PheRS) into essential proteins. Through molecular, biochemical, and proteomic analyses in Synechocystis, the research shows that m‐Tyr ...
Hagit Zer, Roei Matan, David Rasin, Yoram Soroka, Noa Carmi, Hanan Schoffman, Nir Keren, Jörg Nickelsen, Oren Ostersetzer‐Biran   +8 more
wiley   +1 more source