Results 171 to 180 of about 55,491 (303)

A Nonketotic Hyperglycinemia Mouse Shows Wide‐Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One‐Carbon Charging, and Serine Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Nonketotic hyperglycinemia is a severe neonatal epileptic encephalopathy caused by deficient glycine cleavage enzyme activity, for which currently no effective treatment exists. Incomplete understanding of brain biochemistry represents a major knowledge gap to develop new treatments.
Michael A. Swanson, Hua Jiang, Lakshmi Divya Kolora, Rachel Molino, Richard Reisdorph, Cole R. Michel, Katrina A. Doenges, Kit‐Yi Leung, Xiangping Lin, Frank Wong, Samual Lancaster, Basil Michael, Michael Snyder, Daniella H. Hock, David A. Stroud, Tim Wood, Robert Binard, Laura Anderson‐Lehman, Uwe Christians, Erland Arning, Marisa W. Friederich, Roxanne A. Van Hove, Kenneth N. MacLean, Nicholas D. E. Greene, Johan L. K. Van Hove   +24 more
wiley   +1 more source

Energy Metabolism Under Stress: Late‐Stage Leigh Syndrome Reveals Profound Cardiometabolic Perturbations in Ndufs4 KO Mice

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
Cardiac bioenergetic and metabolic perturbations in late‐stage Leigh syndrome. Whole‐body NDUFS4 loss severely impairs cardiac complex I activity and respiration, shifting reliance to complex II and reducing glycolytic, TCA, and amino acid‐derived energy‐generating substrates in the heart.
Karin Terburgh, Nastassja Sweeney, Roan Louw   +2 more
wiley   +1 more source

Supplementary Figures S1-S6 from Molecular Basis of Valine-Citrulline-PABC Linker Instability in Site-Specific ADCs and Its Mitigation by Linker Design

, 2023
Magdalena Dorywalska, Russell G. Dushin, Ludivine Moine, Santiago Farias, Dahui Zhou, Thayalan Navaratnam, Victor Lui, Adela Hasa-Moreno, Meritxell Galindo Casas, Thomas-Toan Tran, Kathy Delaria, Shuhui Liu, Davide Foletti, Christopher J. O’Donnell, J. Pons, David L. Shelton, Arvind Rajpal, Pavel Strop   +17 more
openalex   +2 more sources

Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition‐Related Hyperammonemia

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Hyperammonemia is a medical emergency, and the cause must be identified quickly in order to treat appropriately. Malnutrition is a known risk factor for hyperammonemia; however, there are limited reliable lab indicators used to identify malnutrition.
M. M. Crenshaw, O. M. D'Annibale, V. Martucci, S. Gracie, A. Kochhar, J. Stansauk, A. Larson, P. Baker II, C. Peck, T. Wood, A. El‐Gharbawy, S. McCandless, M. K. LoPiccolo   +12 more
wiley   +1 more source

Oral Testofen, L-Citrulline, Resveratrol, and Caffeine Supplement Drink Improves Sexual Function in Men with Phosphodiesterase 5 Inhibitors: Randomized, Double-Blind, Placebo-Controlled Crossover Pilot Study

, 2020
Akira Tsujimura
openalex   +1 more source

NF-κB citrullination [PDF]

Nature Immunology, 2017
openaire   +2 more sources

A Novel PCK1 Gene Variant Associated With Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Two Siblings With Different Clinical Presentations

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Cytosolic phosphoenolpyruvate carboxykinase (PEPCK‐C) deficiency is a rare autosomal recessive gluconeogenesis disorder caused by variants in the PCK1 gene. Clinically, PEPCK‐C deficiency is characterized by recurrent episodes of fasting‐induced hypoglycemia, liver dysfunction, and seizures, with the first hypoglycemic episode typically ...
Lauma Vasiļevska, Ieva Puķīte, Madara Auzenbaha, Dmitrijs Rots, Ieva Grīnfelde, Andžela Lazdāne, Sebastian Schulz‐Jürgensen   +6 more
wiley   +1 more source

Metabolism of arginine in juvenile largemouth bass (Micropterus salmoides) after oral or intraperitoneal administration of arginine or its substrates

Amino Acids
The main objective of this experiment was to study the metabolism of arginine in juvenile largemouth bass (Micropterus salmoides). A total of 300 healthy fish (average weight of 25 ± 0.5 g) were randomly assigned to ten groups.
Jiteng Wang, Jingyi Zhang, Xinyu Li, Hanying Y. Xu, Yeshun Yang, Jiankun Zhang, Wenping Feng, Qiang Chen, Fen Dong, Tao Han   +9 more
doaj   +1 more source

PERFORMANCE EFFECTS OF CITRULLINE MALATE AND BEETROOT JUICE SUPPLEMENTATION

, 2020
Eric T. Trexler
openalex   +1 more source

Hyperornithinemia-Hyperammonemia- Homocitrullinuria Syndrome: Low Creatine Excretion and Effect of Citrulline, Arginine, or Ornithine Supplement [PDF]

, 1987
Carlo Dionisi‐Vici, C. Bachmann, M. Gambarara, J. P. Colombo, G. Sabetta   +4 more
openalex   +1 more source