Results 91 to 100 of about 16,904 (180)

Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience. [PDF]

Orphanet J Rare Dis
Al Khudari R, Baqla S, Al Asmar D.
europepmc   +1 more source

A simulation study on the role of mitochondria‐sarcoplasmic reticulum Ca2+ interaction in cardiomyocyte energetics during exercise

The Journal of Physiology, EarlyView.
Abstract figure legend An integrated model of human ventricular myocyte with excitation‐contraction‐energetics coupling was created to systematically analyse the contribution of Ca2+ regulation of mitochondrial enzymes to cardiomyocyte functions during workload transition; i.e. exercise.
Ayako Takeuchi, Satoshi Matsuoka
wiley   +1 more source

Deciphering the brain glucose metabolism: A gateway to innovative stroke therapies. [PDF]

J Cereb Blood Flow Metab
Pisani DF, Blondeau N.
europepmc   +1 more source

Antioxidant supplementation blunts the proteome response to 3 weeks of sprint interval training preferentially in human type 2 muscle fibres

The Journal of Physiology, EarlyView.
Abstract figure legend Sprint interval training (SIT) is a popular time‐efficient type of endurance training. Healthy young men performed nine SIT sessions (4–6 × 30 s all‐out cycling sprints) over 3 weeks while being supplemented with antioxidants (high doses of vitamins C and E) or placebo. Muscle biopsies taken before and after the first SIT session
Victoria L. Wyckelsma, Marta Murgia, Sigitas Kamandulis, Stefano Gastaldello, Marius Brazaitis, Audrius Snieckus, Nerijus Eimantas, Mati Pääsuke, Sebastian Edman, William Apro, Daniel C. Andersson, Håkan Westerblad, Tomas Venckunas   +12 more
wiley   +1 more source

Dysregulation of mitochondrial α-ketoglutarate dehydrogenase leads to elevated lipid peroxidation in CHCHD2-linked Parkinson's disease models. [PDF]

Nat Commun
Gao G, Shi Y, Deng HX, Krainc D.
europepmc   +1 more source

A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Human alanine:glyoxylate aminotransferase (AGT) is a liver peroxisomal enzyme that metabolizes glyoxylate, the oxalate precursor, to glycine. AGT deficiency, due to recessive pathogenic changes in the AGXT gene, results in calcium oxalate accumulation and kidney stones, a condition known as primary hyperoxaluria type 1 (PH1).
Luana Ruta, Andrea G. Cogal, Gioena Pampalone, David J. Sas, John C. Lieske, Gill Rumsby, Barbara Cellini, Peter C. Harris   +7 more
wiley   +1 more source

An atypical presentation in a child with propionic acidemia? Better think twice! [PDF]

JIMD Rep
Burkhardt T, Kastor KL, Christ S, Opladen T, Staufner C, Beck-Wödl S, Haack T, Hempel M, Seitz A, Kölker S.   +9 more
europepmc   +1 more source

Redirecting Intermediary Metabolism to Counteract Cyanide Poisoning

The FASEB Journal, Volume 39, Issue 12, 30 June 2025.
Cyanide is coined “the classic metabolic poison”; however, FDA‐approved cyanide chelators do not counteract cyanide's metabolic damage. Here, we review the mechanisms of cyanide toxicity, with a focus on intermediary metabolism. We present the theory that, within the innate plasticity of the metabolome, there may reside metabolic pathways that can ...
Vik S. Bebarta, Anjali K. Nath
wiley   +1 more source

Say hello to my little friend… micronutraceuticals in neuroenergetics, neuronal health, and neurodegenerative diseases. [PDF]

Front Neurosci
Mason S.
europepmc   +1 more source

Recent Advances on the Role of B Vitamins in Cancer Prevention and Progression. [PDF]

Int J Mol Sci
Frost Z, Bakhit S, Amaefuna CN, Powers RV, Ramana KV.   +4 more
europepmc   +1 more source