Results 21 to 30 of about 748 (132)

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1192-1203, June 2026.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Nuclear Magnetic Resonance–Based Urinary Metabolic Profiling for Assessing Heat Stress–Related Incident Kidney Injury in Health‐Care Workers

GeoHealth, Volume 10, Issue 6, June 2026.
Abstract During the COVID‐19 pandemic, heat stress (HS) was a serious occupational risk for health‐care workers (HCWs) wearing personal protective equipment, which limits heat dissipation and increases the risk of kidney injury. In this exploratory study, we assessed HS‐related changes in the urinary metabolites of 38 HCWs working at mobile COVID‐19 ...
Cheng‐Yu Ting, Chi‐Tsung Chen, Tzu‐Hsin Yen, Jason Kai Wei Lee, Sheng‐Han Lee, Shang‐Jen Chang, Tzu‐Han Hung, Hao‐Jan Liang, Hsiao‐Yu Yang, Ching‐Yu Lin   +9 more
wiley   +1 more source

BCR::ABL1‐Induced Enhancer Reprogramming Uncovers Hypersensitivity of Ph+B‐ALL Cells to Enhancer‐Targeting Drugs

Advanced Science, Volume 13, Issue 25, 4 May 2026.
Ng et al. show that the BCR::ABL1 kinase that drives the lymphoid leukemia Ph+B‐ALL modulates enhancer function by coopting signaling‐inducible transcription factors such as MYC, STAT5, and ETV5. BCR::ABL1 thereby promotes the transcriptional program driving and defining this leukemia and renders Ph+B‐ALL cells hypersensitive to enhancer‐inhibiting ...
Han Leng Ng, Trudy Lee Glaser, Jintao Zhu, Mark E. Robinson, Kadriye N. Cosgun, Valeriya Malysheva, Ozgen Deniz, Nicholas T. Crump, Kaiyue Helian, Andrew J. Innes, Richard Burt, Li Sun, George John, Haibin Zhou, Atsunori Kaneshige, Longchuan Bai, Shaomeng Wang, Mikhail Spivakov, Markus Müschen, Niklas Feldhahn   +19 more
wiley   +1 more source

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Riboflavin (RF, vitamin B2) is an essential vitamin of which the co‐factors are critical to numerous cellular processes. RF is used as a treatment for inherited metabolic diseases (IMDs), although its effectiveness in many disorders has not been established.
Bregje Jaeger, Nina N. Stolwijk, Femke Aaldering, Charlotte A. Ruys, Marije Smits, Nicole I. Wolf, Carla E. M. Hollak, Annet M. Bosch   +7 more
wiley   +1 more source

Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere)

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Adult Refsum disease (ARD; OMIM 266510) is a degenerative autosomal recessive condition typically diagnosed in adulthood. It affects visual, auditory and nervous system function. It is characterised by plasma, neuro‐ophthalmological and adipose tissue accumulation of the dietary‐derived phytanic acid (PA).
Radha Ramachandran, Raphael Buttigieg, Florian Eichler, Bart P. Leroy, Omar Mahroo, Rachel M. Huckfeldt, Sarah Firman, Eleanor Baldwin, Kristie DeMarco, Susan Kuranoff, Amena Fine, Reinhard Klingel, Sacha Ferdinandusse, Joseph G. Hacia, Ronald J. Wanders, Anthony S. Wierzbicki   +15 more
wiley   +1 more source

Advances in Wine Yeast Autolysis: Biochemical and Molecular Mechanisms, and the Release of Organic Compounds in White and Sparkling Wines—An Updated Review

Comprehensive Reviews in Food Science and Food Safety, Volume 25, Issue 3, May 2026.
ABSTRACT Wine yeasts play a central role in alcoholic fermentation and significantly contribute to the sensory attributes of wines through cellular autolysis during lees aging (sur lie), especially in white wines. This process releases organic compounds that alter the wine's chemical and sensory profile.
José Ricardo Machado dos Santos, Aniela Pinto Kempka   +1 more
wiley   +1 more source

Loss of calcium‐dependent phospholipase A2 contributes to multi‐omic changes in mouse denervated skeletal muscle

Physiological Reports, Volume 14, Issue 10, May 2026.
Abstract Age‐related loss of innervation in skeletal muscle is a key driver of sarcopenia. We investigated the role of calcium‐dependent phospholipase A2 (cPLA2) in denervation‐atrophy. cPLA2 mediates the release of polyunsaturated fatty acid substrates, and the oxidation of the free fatty acids generates oxylipins, which are bioactive signaling ...
Agnieszka Czyżowska‐Froemling, Hongyang Xu, Kylene Harold, Jessica Thomason, Kara Kneuper, Elizabeth Duggan, Atul Pranay, Jie Zhu, Martin‐Paul Agbaga, Constantin Georgescu, Victoria Tyrrell, Valerie O'Donnell, Ken Humphries, Holly Van Remmen, Jacob L. Brown   +14 more
wiley   +1 more source

Anxiety Disorder Types From a Metabolomics Perspective: A Mendelian Randomization Analysis Based on 1400 Plasma Metabolites

Brain and Behavior, Volume 16, Issue 4, April 2026.
This study investigates the causal relationship between plasma metabolites and three common types of anxiety disorders using Mendelian randomization analysis. Our findings propose a novel direction for utilizing metabolites as biomarkers in the diagnosis and treatment of anxiety disorders.
Zhen Xiao, Zedi Wu, Zixin Chen, Ziyue Xu, Qi Zhou, Silan Liu, Muqing Wang, Shujun Hou, Wanling Liu, Zhengyi Li, Kunping Xun, Ning Zhang, Chun Wang   +12 more
wiley   +1 more source

Amphiphilic Polymer Model Networks Synthesized by Different Hetero‐Complementary Coupling Reactions of Tetra‐PEG and Tetra‐PCL Stars

Macromolecular Chemistry and Physics, Volume 227, Issue 7, 14 April 2026.
Amphiphilic co‐networks (ACN) synthesized by different hetero‐complementary reactions of hydrophilic tetra‐PEG and hydrophobic tetra‐PCL stars are compared. For the ACNs, equilibrium volume swelling degrees (Qv) are determined. Information about the ACNs micro structure (connectivity distribution) is obtained from proton low‐resolution multiple‐quantum
Stephanie Ihmann, Bidit Lamsal, Martin Geisler, Kay Saalwächter, Frank Böhme   +4 more
wiley   +1 more source

Understanding epilepsy in IDH-mutated gliomas: towards a targeted therapy. [PDF]

Neuro Oncol, 2022
Winkler F.
europepmc   +1 more source