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
Molecular dynamics simulation unveils the conformational flexibility of the interdomain linker in the bacterial transcriptional regulator GabR from Bacillus subtilis bound to pyridoxal 5'-phosphate [PDF]
, 2017 GabR from Bacillus subtilis is a transcriptional regulator belonging to the MocR subfamily of the GntR regulators. The structure of the MocR regulators is characterized by the presence of two domains: i) a N-terminal domain, about 60 residue long ...
Guidoni, Leonardo +4 more
core +10 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
Family case of aromatic L-amino acid decarboxylase deficiency
Нервно-мышечные болезни, 2022 Aromatic L‑amino acid decarboxylase (AADC) deficiency is rare autosomal recessive neurometabolic disorder. It caused by generalized combined deficiency of serotonin, dopamine, norepinephrine and adrenaline.
O. B. Kondakova +9 more
doaj +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
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
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
JBMR Plus, 2019 The response to teriparatide has been described in very few cases of hypophosphatasia (HPP). In this cross‐sectional study, we report the prevalence of symptomatic bone marrow edema (BME) and fracture healing complications in a large cohort of childhood ...
Tobias Schmidt +6 more
doaj +1 more source
Investigation of Structural Dynamics of Enzymes and Protonation States of Substrates Using Computational Tools. [PDF]
, 2016 This review discusses the use of molecular modeling tools, together with existing experimental findings, to provide a complete atomic-level description of enzyme dynamics and function.
Chang, Chia-En A +3 more
core +2 more sources
Harnessing Photoenzymatic Systems for Intermolecular C–H Fluorination
Angewandte Chemie, EarlyView.Despite the remarkable versatility of enzymes for catalyzing complex organic transformations under mild aqueous conditions, no biocatalytic system has been reported for intermolecular C–H fluorination. A radical photoenzymatic approach is introduced that leverages a designed de novo protein scaffold with an unnatural amino acid to achieve precise ...
Yu Zhou +7 more
wiley +2 more sources