Results 51 to 60 of about 107,475 (169)

Comparative Analysis of Dietary Patterns in Children With Phenylketonuria Phenotypes and Controls: Implications for Nutritional Status

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Individuals with phenylketonuria (PKU), caused by different variants of the phenylalanine hydroxylase gene, need to restrict their intake of phenylalanine. This study evaluated dietary patterns and physical activity levels in children with different PKU phenotypes compared to healthy controls. Eighty‐two children were recruited (22 classic PKU
Dolores Garcia‐Arenas, Aida Ormazabal, Paula Isern, Blanca Barrau‐Martinez, Arnau Gonzalez‐Rodriguez, Alba Tor‐Roca, Rafael Llorach, Jaume Campistol‐Plana, Mireia Urpi‐Sarda, Consortium PKU.cat.   +9 more
wiley   +1 more source

Determination by Site-directed Mutagenesis of Sites in Sepiapterin Reductase Phosphorylated by Ca2+/Calmodulin-dependent Protein Kinase II

Pteridines, 2000
Phosphorylation sites of sepiapterin reductase (SPR) phosphorylated by Ca2+-dependent protein kinase II (CaM KII) were studied. By immunoreaction against phosphorylated amino acids, we found that Ser residues of SPR were phosphorylated.
Fujimoto Kengo, Inaba Akemi, Tomomura Akito, Katoh Setsuko   +3 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Influence of pteridines and statins on cancer: A therapeutic strategy targeting nitric oxide synthase (NOS) pathway

Advances in Redox Research
A family of enzymes known as nitric oxide synthases (NOS) produces nitric oxide (NO), a tiny, unstable, and potentially hazardous gas that is highly diffusible across cell membranes.
Jerimon Johnson, Monisha Krishnan, Sasireka Manikandan, Nivetha Shanmuganathan, Martinahingis Kennedy, Kris Santhiya Yeasuraj, Sridhar Muthusami, Angayarkanni Jayaraman   +7 more
doaj   +1 more source

Sulfa Drugs Inhibit Sepiapterin Reduction and Chemical Redox Cycling by Sepiapterin Reductase [PDF]

, 2014
Sepiapterin reductase (SPR) catalyzes the reduction of sepiapterin to dihydrobiopterin (BH2), the precursor for tetrahydrobiopterin (BH4), a cofactor critical for nitric oxide biosynthesis and alkylglycerol and aromatic amino acid metabolism.
Vladimir Mishin, Jason R. Richardson, Muhammad M. Hossain, Diane E. Heck, Shaojun Yang, Yi-hua Jan, Jeffrey D. Laskin, Ned D. Heindel, Debra L. Laskin   +8 more
core  

Age‐Dependent Variation in Blood Biopterin Peaks Following Oral Tetrahydrobiopterin Administration in Phenylketonuria

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The correct diagnosis of tetrahydrobiopterin (BH4, sapropterin dihydrochloride)‐responsive phenylketonuria (PKU) and treatment with BH4 are important for prognosis and quality of life. We examined whether age affects biopterin bioavailability following oral BH4 administration in PKU and whether this influences BH4 responsiveness.
Kana Kitayama, Tomoko Sakaguchi, Noriko Nakano, Daijiro Kabata, Haruo Shintaku, Takashi Hamazaki   +5 more
wiley   +1 more source

Pigments, Chromatophore Structure, and Gene Expression Underlying Colour Polytypy of a Panamanian Poison Frog

Molecular Ecology, Volume 35, Issue 1, January 2026.
ABSTRACT Colour polytypism represents an example of phenotypic diversification shaped by genetic divergence and ecological pressures. Poison frogs of the genus Oophaga (Dendrobatidae) are highly polytypic in coloration, making them an ideal system for investigating the genetic and physiological basis of colour variation.
Vasiliki Mantzana‐Oikonomaki, Giselle Tamayo‐Castillo, Víctor Vásquez‐Cháves, Abel Mora‐Machado, William J. Zamora Ramirez, Roberto Ibáñez, Heike Pröhl, Ariel Rodríguez   +7 more
wiley   +1 more source

Levodopa Use and Long‐Term Benefit in Different Dystonia Phenotypes

Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.
Background Dopaminergic changes have been reported in various forms of dystonia beyond dopa‐responsive dystonia (DRD). Besides DRD, levodopa (LDopa) is generally not considered effective in dystonia and may worsen it. This study assesses the impact of LDopa on different dystonia phenotypes. Objectives The patient database of Tampere University Hospital
Rebekka M. Ortiz, Jari Honkaniemi, Gessica Sala   +2 more
wiley   +1 more source

Biosynthetic Enzymes of Tetrahydrolimipterin from Green Sulfur Bacterium Chlorobium Limicola

Pteridines, 1998
Based on the structure of limipterin (Cha, Pfleiderer, and Yim, Helv, Chim. Acta, 78: 600-614. 1995 the biosynthetic pathway for the newly identified pterin glycoside was investigated. It was demonstrated that tetrahydrolimipterin (H4 -limipterin) can be
Kang Dongmin, Kim Sangjoon, Yim Jeongbin
doaj   +1 more source

Breast Milk Proteome: Changes in the Different Stages of Lactation and Impacts of Gestational Diabetes Mellitus and Body Mass Index

Molecular Nutrition &Food Research, Volume 69, Issue 22, November 2025.
We analyzed colostrum and breast milk from 47 mothers to see how proteins change over time and with maternal health. Colostrum had more immune proteins, while mature milk had proteins linked to growth support. Gestational diabetes and higher BMI altered the protein composition.
Timo Seitz, Jenni Viitaharju, Chouaib Benchraka, Johannes Merilahti, Marko Kalliomäki, Lauri Polari, Diana Toivola, Leo Lahti, Otto Kauko, Kirsi Laitinen   +9 more
wiley   +1 more source