Results 141 to 150 of about 58,002 (312)

Biological Conversion of Formate to Organic Compounds: Toward a Sustainable Formate Bioeconomy

Carbon Energy, Volume 8, Issue 1, January 2026.
Formate bioconversion plays a crucial role in achieving renewable resource utilization and sustainable development. To tap its full potential, it is important to identify the most appropriate microbial hosts for incorporating formate into building blocks, design the most promising metabolic pathways for transmitting formate into central carbon ...
Jinyi Qian, Tiantian Chai, Chunlei Zhao, Xiulai Chen   +3 more
wiley   +1 more source

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phenotypic heterogeneity, nonspecific symptoms, and the limited scope of current targeted biochemical assays ...
Jonathan Martens, Udo F. H. Engelke, Ron A. Wevers, Dirk J. Lefeber, Purva Kulkarni   +4 more
wiley   +1 more source

Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Our research aimed to model primary hyperoxaluria type 1 in vitro using a stem cell model and assess the potential of adenine base editors in correcting the most common pathogenic AGXT genetic variant, c.508G>A (Gly170Arg), which leads to oxalate accumulation due to alanine‐glyoxylate aminotransferase mislocalization.
Timo Keskinen, Sami Jalil, Irem Gümüşoğlu, Juhana Juutila, Nadim Kestilä, Emilia Kuuluvainen, Ville Hietakangas, Diego Balboa, Kirmo Wartiovaara, Mervi E. Hyvönen   +9 more
wiley   +1 more source

The pyridoxal‐5′‐phosphate‐dependent catalytic antibody 15A9: its efficiency and stereospecificity in catalysing the exchange of the α‐protons of glycine [PDF]

, 1998
Marrita M. Mahon, Svetlana Gramatikova, Philipp Christen, Teresa B. Fitzpatrick, J. Paul G. Malthouse   +4 more
openalex   +1 more source

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) [PDF]

, 2017
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-α-aminoadipic semialdehyde/l-Δ1 ...
Aylett, Sarah, Baxter, Peter, Christensen, Ernst, Clayton, Peter T., Craigen, William J., De Lonlay, Pascale, Dulac, Olivier, Feillet, François, Footitt, Emma J., Hemingway, Cheryl, Hughes, M. Imelda, Jakobs, Cornelis, Marlow, Neil, Mills, Kevin A., Mills, Philippa B., Nabbout, Rima, Pike, Mike G., Rennie, Janet, Schmitt, Bernhard, Struys, Eduard A., Tuschl, Karin, Varadkar, Sophia, Zuberi, Sameer M.   +22 more
core  

Modification of Pepsinogen with Pyridoxal Phosphate

Journal of Biological Chemistry, 1974
Pyridoxal-PO4 binds to pepsinogen in a reaction in which the stoichiometry is highly dependent on the conformation of the protein. When pepsinogen is in its native conformation, pyridoxal-PO4 forms Schiff bases with the α-NH2 group of Leu1 and the e-NH2 group of Lys358.
openaire   +2 more sources

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

Substitution of glutamine for lysine at the pyridoxal phosphate binding site of bacterial D-amino acid transaminase. Effects of exogenous amines on the slow formation of intermediates.

, 1990
Shiroh Futaki, Hiroshi Ueno, Álvaro Martínez‐del‐Pozo, Maria A. Pospischil, James M. Manning, Dagmar Ringe, Barry Stoddard, Katsuyuki Tanizawa, Tohru Yoshimura, K. Soda   +9 more
openalex   +1 more source

Efzimfotase Alfa Improves Respiratory Capacity in Muscle Tissue From a Mouse Model of HPP

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Hypophosphatasia (HPP) is an inherited metabolic disease caused by deficient tissue‐nonspecific alkaline phosphatase (ALP) activity and characterized by skeletal and nonskeletal symptoms, including muscle weakness and fatigue. We hypothesized that mitochondrial respiration is impaired in muscle in HPP, independent of skeletal manifestations ...
Denise Devore, Juan Ruanova, Walter Voegtli, Derek Dunn, John Decker, Maurizio Mazzantini, Vincenzo De Tata, Maria Concetta Scavuzzo, Francesco Conti, Anna Petryk, Maria Luisa Brandi   +10 more
wiley   +1 more source

The Crystal and Molecular Structure of Vitamin B6 Derivatives. I. Pyridoxal Phosphate Hydrate and Pyridoxal Phosphate Methyl Hemiacetal [PDF]

, 1973
T. Fujiwara
openalex   +1 more source