Results 191 to 200 of about 60,031 (297)

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

open access: yesJournal 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   +24 more
wiley   +1 more source

Ketogenic diet-induced changes in methylation status and neuropeptide signaling: relationships between S-adenosylmethionine (AdoMet), orexin-A, and metabolic health. [PDF]

open access: yesFront Physiol
Mosca L   +14 more
europepmc   +1 more source

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

open access: yesJournal 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   +2 more
wiley   +1 more source

Home - About - Disclaimer - Privacy