Results 61 to 70 of about 70,295 (294)
The aims of this study were to examine the effects of pyridoxine administration on the activities of cardiac antioxidant stress enzymes superoxide dismutase (SOD) and catalase (CAT) and enzyme indicators of cardiometabolic status, lactate and malate ...
Slavica Mutavdzin Krneta +7 more
doaj +1 more source
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) [PDF]
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 +22 more
core
Profiling Inhibitor Scaffolds for the Cancer Target Jumonji‐C Domain‐Containing Protein 6
High‐throughput mass spectrometry assays identify scaffolds for the development of inhibitors of the anticancer target Jumonji‐C domain‐containing protein 6 (JMJD6). Molecular docking studies suggest strategies for structure‐guided inhibitor optimization.
Thomas P. Corner +5 more
wiley +1 more source
Oil seed production has an important role in human nutrition and industry. Success in oil plant cultivation is related to seed production with high viability and rapid germination, because these seeds rapidly loose their viability by fats oxidation. Thus,
Aria DOLATABADIAN +1 more
doaj +1 more source
In-vitro proliferation of Musa balbisiana improves with increased vitamin concentration and dark culturing [PDF]
Musa balbisiana is a wild banana genotype with important traits such as drought tolerance and disease resistance. Uniform and clean plants are often required to study these traits in different laboratories but plants can only be generated through a ...
Karamura, E.B. +5 more
core
ABSTRACT Background Pathogenic CYFIP2 variants cause developmental and epileptic encephalopathy (DEE), characterized by early‐onset intractable epilepsy and developmental delay. The disease course has not been delineated. Codon Arg87 is a de novo mutational hotspot associated with a severe DEE phenotype via gain‐of‐function mechanisms. Currently, there
Michaela Squire +3 more
wiley +1 more source
Pyridoxine and survival of tilapia (Sarotherodon mossambicus Peters) [PDF]
Pyridoxine requirements of tilapia (Sarotherodon mossambicus Peters) were studied in two separate experiments using casein-based diets. In Experiment 1, fish on pyridoxine supplemented diet (14.0mg/100g diet) showed no adverse symptoms and remained ...
Jackson, A. +3 more
core
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin B6-Dependent Epilepsy [PDF]
Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation.
Champion, Mike +19 more
core +1 more source
Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria
Pyridoxine (vitamin B6) is an essential vitamin playing a crucial role in amino acid metabolism. Pyridoxine is used for isoniazid side-effects prevention, pyridoxine-dependent epilepsy treatment and cystathionine beta-synthase deficiency (homocystinuria)
A. Echaniz-Laguna +3 more
semanticscholar +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source

