Results 41 to 50 of about 54,863 (229)
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
Family case of aromatic L-amino acid decarboxylase deficiency
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
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO) [PDF]
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
The Human SLC25A33 and SLC25A36 Genes of Solute Carrier Family 25 Encode Two Mitochondrial Pyrimidine Nucleotide Transporters [PDF]
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]
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
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]
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
The endogenous production of hydrogen sulphide in intrauterine tissues [PDF]
Background: Hydrogen sulphide is a gas signalling molecule which is produced endogenously from L-cysteine via the enzymes cystathionine beta-synthase (CBS) and cystathionine gamma-lyase (CSE).
Carson, Ray J. +4 more
core +5 more sources
Ornithine decarboxylase activity, a clinical biomarker for evaluating cancer chemopreventive efficacy of phytomolecules [PDF]
Biomarkers of cancer have made a strong traipse in predicting the disease pattern and contributed significantly to the understanding of tumour state, progression, characteristics and response to therapies.
Nusrat Masood +2 more
core +2 more sources
Blood serum pyridoxal-5-phosphate, homocysteine and neopterin concentrations have been examined in 30 healthy individuals and 87 patients with coronary heart disease, verified by coronary angiography.
Rudzite Vera +7 more
doaj +1 more source

