Results 21 to 30 of about 2,442 (103)

Biochemical, Clinical, and Functional Characterization of a Rare c.‐106C>A Promoter Region Variant in Late‐Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Ornithine transcarbamylase (OTC) deficiency can present during the neonatal period, infancy, or adulthood. Late‐onset phenotypes are influenced by residual enzyme activity and OTC gene expression. The objective of this study was to assess the pathogenicity of a rare promoter region variant, c.‐106C>A.
Samuel Quinn Tholl, Wendy McCaul, Anthony Rupar, Melanie P. Napier, Natalya Karp, Andrea C. Yu, Suzanne Ratko, Aneal Khan, Michael Geraghty, Chitra Prasad   +9 more
wiley   +1 more source

Metagenomic Insights Into the Ecology, Taxonomy and Metabolic Capabilities of ‘Candidatus Darwinibacteriales’ Ord. Nov. (Formerly MBA03), a Potential Key Player in Anaerobic Digestion

Microbial Biotechnology, Volume 18, Issue 12, December 2025.
Metagenomic analysis of anaerobic digesters revealed a dominant, uncultured bacterial taxon—MBA03—now proposed as ‘Candidatus Darwinibacteriales’ ord. nov. This newly defined order includes potential syntrophic acetate‐oxidising bacteria (SAOB), suggesting a key role in methane production.
Roser Puchol‐Royo, Javier Pascual, Asier Ortega‐Legarreta, Pascal Otto, Jeroen Tideman, Sjoerd‐Jan de Vries, Christian Abendroth, Kristie Tanner, Manuel Porcar, Adriel Latorre‐Perez   +9 more
wiley   +1 more source

New developments in the treatment of hyperammonemia: emerging use of carglumic acid

International Journal of General Medicine, 2011
Marta Daniotti1, Giancarlo la Marca2, Patrizio Fiorini1, Luca Filippi11Neonatal Intensive Care Unit, Department of Perinatal Medicine, “A. Meyer” University Children’s Hospital, Florence, Italy; 2Mass Spectrometry, Clinical ...
Marta Daniotti, Giancarlo la Marca, Patrizio Fiorini, et al   +3 more
doaj  

Generation of Highly Functional Hepatocyte-like Organoids from Human Adipose-Derived Mesenchymal Stem Cells Cultured with Endothelial Cells

Cells
Previously, we successfully established a highly functional, three-dimensional hepatocyte-like cell (3D-HLC) model from adipose-derived mesenchymal stem cells (ADSCs) via a three-step differentiation protocol.
Shuhai Chen, Yu Saito, Yuhei Waki, Tetsuya Ikemoto, Hiroki Teraoku, Shinichiro Yamada, Yuji Morine, Mitsuo Shimada   +7 more
doaj   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Impact of Advances in Anion Exchange Membranes and Ionomers on Alkaline Fuel Cells

Chemistry – An Asian Journal, Volume 20, Issue 18, September 15, 2025.
Advances in anion exchange membranes (AEMs) and ionomer design have propelled alkaline fuel cells toward unprecedented performance, with peak power densities exceeding 3.5 W cm⁻2. This review highlights how molecular‐level innovations— stable hydrocarbon backbones, robust cationic groups, and pH‐gradient‐enabled bipolar interfaces—enable durable, high ...
Zhongyang Wang, Shrihari Sankarasubramanian, Jianping Chen, Vijay K. Ramani   +3 more
wiley   +1 more source

Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung, Dany Perocheau, Roopkatha Ghosh, Stephen L. Hart, Julien Baruteau   +4 more
wiley   +1 more source

CO2‐Dependent Promotion of Photosynthesis Drives Metabolic Photoacclimation in Chlamydomonas reinhardtii

Physiologia Plantarum, Volume 177, Issue 5, September/October 2025.
ABSTRACT Light and inorganic carbon (Ci) drive photosynthesis, which fuels cellular maintenance, energy storage, and growth in photosynthetic organisms. Despite its pivotal role, how primary metabolism adjusts to contrasting light and Ci availability in algae remains elusive.
Ana Pfleger, Erwann Arc, Thomas Roach
wiley   +1 more source

Viral Reprogramming of Nucleotide Synthesis and Its Impact on Viral Infection

Journal of Medical Virology, Volume 97, Issue 8, August 2025.
ABSTRACT Nucleotides are the building blocks of DNA and RNA. They also play essential roles in various other biological processes, including protein glycosylation, ribosome biogenesis, and cytoskeletal function. The significance of the regulation of nucleotide metabolism has recently gained more attention in many physiological and pathological contexts,
Lara Dsouza, Zhilong Yang
wiley   +1 more source

Mitochondrial proteome landscape unveils key insights into melanoma severity and treatment strategies

Cancer, Volume 131, Issue 13, 1 July 2025.
This study uses comprehensive quantitative proteomics of 151 melanoma‐related samples to demonstrate that the upregulation of mitochondrial translation and oxidative phosphorylation is intricately linked to tumor aggressiveness, treatment resistance, and poor clinical outcomes.
Yonghyo Kim, Viktória Doma, Uğur Çakır, Magdalena Kuras, Lazaro Hiram Betancourt, Indira Pla, Aniel Sanchez, Yutaka Sugihara, Roger Appelqvist, Henriett Oskolas, Boram Lee, Jéssica Guedes, Gustavo Monnerat, Gabriel Reis Alves Carneiro, Fábio C. S. Nogueira, Gilberto B. Domont, Johan Malm, Bo Baldetorp, Elisabet Wieslander, István Balázs Németh, A. Marcell Szász, Runyu Hong, Krzysztof Pawłowski, Melinda Rezeli, Ho Jeong Kwon, Jozsef Timar, David Fenyö, Sarolta Kárpáti, György Marko‐Varga, Jeovanis Gil   +29 more
wiley   +1 more source