Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) [PDF]
, 2010 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-{alpha}-aminoadipic semialdehyde/L-{Delta}
Adam +50 more
core +3 more sources
Pyridoxal-5'-Phosphate-Dependent Catalytic Antibodies [PDF]
Applied Biochemistry and Biotechnology, 2000 Cofactors--i.e., metal ions and coenzymes--extend the catalytic scope of enzymes and might have been among the first biological catalysts. They may be expected to efficiently extend the catalytic potential of antibodies. Monoclonal antibodies (MAbs) against Nalpha-phosphopyridoxyl-L-lysine were screened for 1) binding of 5'-phosphopyridoxyl amino acids,
Gramatikova, Svetlana I +1 more
openaire +5 more sources
Toward eradication of B-vitamin deficiencies : considerations for crop biofortification [PDF]
, 2018 'Hidden hunger' involves insufficient intake of micronutrients and is estimated to affect over two billion people on a global scale. Malnutrition of vitamins and minerals is known to cause an alarming number of casualties, even in the developed world ...
Strobbe, Simon +1 more
core +3 more sources
A comparative study of the electrochemical properties of vitamin B-6 related compounds at physiological pH [PDF]
, 2011 A comparative study of vitamin B6 group and related compounds in buffered solutions using electrochemical techniques has been performed at neutral pH.
A. Pocker +38 more
core +1 more source
The Human SLC25A33 and SLC25A36 Genes of Solute Carrier Family 25 Encode Two Mitochondrial Pyrimidine Nucleotide Transporters [PDF]
, 2014 The human genome encodes 53 members of the solute carrier family 25 (SLC25), also called the mitochondrial carrier family, many of which have been shown to transport inorganic anions, amino acids, carboxylates, nucleotides, and coenzymes across the inner
Agrimi, G. +6 more
core +2 more sources
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO) [PDF]
, 2017 PNPO deficiency is responsible of severe neonatal encephalopathy, responsive to pyridoxal-5’-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected new genetic variants on PNPO gene, whose pathogenetic role and
Carducci, Carla +11 more
core +2 more sources
ChemistryOpen, 2019 Guanidinocalix[5]arene and fluorescein reporter pair has been chosen to set up a supramolecular tandem assay principle based on the differential recognition of pyridoxal‐5′‐phosphate (the substrate of alkaline phosphatase, ALP), pyridoxal (the product of
Yu‐Xin Yue +5 more
doaj +1 more source
Pyridoxine dependent epilepsies: new therapeutical point of view
Italian Journal of Pediatrics, 2017 Pyridoxine dependent epilepsies (PDEs) are rare autosomal recessive disorders with onset in neonatal period. Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after parental pyridoxine administration.
Raffaele Falsaperla, Giovanni Corsello
doaj +1 more source
Microorganisms, 2021 Targeted genome mining is an efficient method of biosynthetic gene cluster prioritization within constantly growing genome databases. Using two capreomycidine biosynthesis genes, alpha-ketoglutarate-dependent arginine beta-hydroxylase and pyridoxal ...
Liliya Horbal +5 more
doaj +1 more source
Protective role of vitamin B6 (PLP) against DNA damage in Drosophila models of type 2 diabetes [PDF]
, 2018 Growing evidence shows that improper intake of vitamin B6 increases cancer risk and several studies indicate that diabetic patients have a higher risk of developing tumors.
MF Fenech +69 more
core +2 more sources