Results 21 to 30 of about 912 (137)

Disorders of biopterin metabolism [PDF]

Journal of Inherited Metabolic Disease, 2009
SummaryDefects in the metabolism or regeneration of tetrahydrobiopterin (BH4) were initially discovered in patients with hyperphenylalaninaemia who had progressive neurological deterioration despite optimal metabolic control (malignant hyperphenylalaninaemia).
openaire   +2 more sources

Tetrahydro‐6‐biopterin is associated with tetrahydro‐7‐biopterin in primary murine mast cells [PDF]

FEBS Letters, 1992
Murine bone marrow‐derived mast cells proliferate in response to interleukin 3. In addition to 6‐biopterin, 7‐biopterin was identified in these cells by HPLC analysis of iodine oxidized extracts and by alkaline permanganate oxidation to the 6‐ and 7‐carboxylic acids. 7‐Biopterin comprised 31.9 (± 7.7)% of the total biopterin.
Ziegler, Irmgard, Hültner, Lothar
openaire   +2 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
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

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +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

Can the Nonheme Iron Oxygenase Thymine Hydroxylase Catalyze Three Successive Reaction Cycles on One Substrate?

ChemCatChem, Volume 18, Issue 18, 28 September 2026.
A computational study on the structure, dynamics and catalytic mechanism is reported on thymine hydroxylase that shows substrate locked inside the protein and enables three successive catalytic cycles for (1) thymine hydroxylation, 2) 5‐hydroxymethyluracil desaturation, and (3) 5‐formyluracil hydroxylation to form carboxylic acid products.
Jingyu Cao, Sam P. de Visser
wiley   +1 more source

Biopterin in Parkinson's disease. [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1987
Tetrahydrobiopterin is an essential co-factor in the natural synthesis of dopamine. Oral tetrahydrobiopterin was given in small doses to four patients with early Parkinson's disease but had no discernible effect.
A P, Moore, P O, Behan, W, Jacobson, W L, Armarego   +3 more
openaire   +2 more sources

eQTL Meta‐Analysis Reveals Conserved and Population‐Specific Regulatory Variation Underlying Nutritional Trait Evolution and Domestication in Tomato

Advanced Science, Volume 13, Issue 44, 7 August 2026.
A comprehensive meta‐analysis of expression quantitative trait loci (eQTLs) across five diverse tomato populations reveals a high‐resolution atlas of transcriptional regulation and uncovers conserved and population‐specific regulatory architectures underlying fruit nutritional quality traits, including flavonoids, sugars, organic acids, carotenoids ...
Jiantao Zhao, Xin Wang, Jing Zhang, Ryan McQuinn, Je Min Lee, Itay Gonda, Ari Feder, Yimin Xu, Baike Wang, Qinghui Yu, Denise M. Tieman, Sanwen Huang, Harry Klee, James J. Giovannoni, Zhangjun Fei   +14 more
wiley   +1 more source

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1814-1820, August 2026.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source