Results 51 to 60 of about 109,987 (177)

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

Almost 200 years of anthocyanin research: What we know, what we assume and what remains unknown

Plant Biology, EarlyView.
Nearly 200 years of anthocyanin research reveal a well‐understood anthocyanin biosynthetic pathway. However, there are still open questions regarding its evolution, functions and ecological significance. Abstract Flavonoids are frequently presented as health‐beneficial plant metabolites, and their subclass anthocyanins is best known for striking flower
N. Choudhary, N. Khatun, B. Pucker
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  

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

Can Repeated Reductive Genome Evolution Across Archaeplastida Explain Volatility in Traits?

Advanced Genetics, Volume 7, Issue 4, December 2026.
Genome evolution in Archaeplastida is often framed around gene gains and increasing complexity. Yet ancestral reconstructions reveal recurrent genome contraction, with ancestors frequently harboring larger gene repertoires than descendants. Across red algae, land‐plant ancestry, and embryophyte diversification, repeated expansion and reduction cycles ...
Cäcilia F. Kunz, Merve Nida Baştürk, Jan de Vries, Hengchi Chen   +3 more
wiley   +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

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2433-2442, November 2026.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Real‐Time Neurochemical Sensing in Zebrafish: Electrochemical and Fluorescent Approaches

Analysis &Sensing, Volume 6, Issue 6, November 2026.
The use of zebrafish has emerged as a powerful approach for real‐time neurochemical measurements. This review highlights recent advances in electrochemical and fluorescent sensing strategies that enable dynamic measurements in live preparations of this complex vertebrate. These complementary approaches provide new insights into neurochemical signaling,
Piyanka Hettiarachchi, Jacob T. Theismann, Michael A. Johnson   +2 more
wiley   +1 more source

Co-localization of L-Phenylalanine Ammonia-Lyase and Cinnamate 4-Hydroxylase for Metabolic Channeling in Phenylpropanoid Biosynthesis

, 2004
Article on the co-localization of L-phenylalanine ammonia-lyase and cinnamate 4-hydroxylase for metabolic channeling in phenylpropanoid ...
Blancaflor, Elison B., Dixon, R. A., Achnine, Lahoucine, Rasmussen, Susanne   +3 more
core   +1 more source

Markers of Systemic Metabolic Dysfunction in Vitiligo and Their Potential Role in Disease Pathogenesis: A Narrative Review

Health Science Reports, Volume 9, Issue 10, October 2026.
ABSTRACT Background Vitiligo is a chronic autoimmune disease characterized by the progressive destruction of melanocytes, resulting in depigmented skin macules. While traditionally viewed as a cutaneous disorder driven by a specific CD8+ T cell‐mediated interferon‐γ (IFN‐γ) signature, emerging research suggests that vitiligo may be a systemic condition
Federica Papaccio, Simona Scano, Barbara Bellei   +2 more
wiley   +1 more source