Results 41 to 50 of about 54,906 (269)

Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6–dependent Epilepsy Than Pyridoxal 5′-Phosphate [PDF]

, 2020
Background We aimed to demonstrate the biochemical characteristics of vitamin B6–dependent epilepsy, with a particular focus on pyridoxal 5′-phosphate and pyridoxal in the cerebrospinal fluid. Methods Using our laboratory database, we identified patients
Akiyama, Tomoyuki, Baba, Shimpei, Dowa, Yuri, Fukuyama, Tetsuhiro, Hamano, Shin-ichiro, Hasegawa, Kosei, Hyodo, Yuki, Imai, Katsumi, Ishihara, Naoko, Kobayashi, Katsuhiro, Koike, Takayoshi, Kubota, Masaya, Oboshi, Taikan, Okanishi, Tohru, Shibasaki, Jun, Shimbo, Hiroko, Shiraku, Hiroshi, Takano, Kyoko, Takeshita, Saoko, Yamamoto, Toshiyuki   +19 more
core   +1 more source

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, Gulzar, Adnan, Milano, Teresa, Narzi, Daniele, Pascarella, Stefano   +4 more
core   +10 more sources

Supramolecular Tandem Assay for Pyridoxal‐5′‐phosphate by the Reporter Pair of Guanidinocalix[5]Arene and Fluorescein

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, Yong Kong, Fan Yang, Zhe Zheng, Xin‐Yue Hu, Dong‐Sheng Guo   +5 more
doaj   +1 more source

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, K. A. Kazakova, A. A. Lyalina, N. V. Lapshina, A. A. Pushkov, N. N. Mazanova, Yu. I. Davydova, D. I. Grebenkin, I. V. Kanivets, K. V. Savostyanov   +9 more
doaj   +1 more source

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, Contestabile, Roberto, Di Salvo, Martino L., Guerrini, Renzo, Leuzzi, Vincenzo, Mastrangelo, Mario, Mei, Davide, Montomoli, Martino, Nogués, Isabel, Paiardini, Alessandro, Tolve, Manuela, Tramonti, Angela   +11 more
core   +2 more sources

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., Cirigliano, A., Di Noia, M. A., Iacobazzi, V., Palmieri, Ferdinando, Rinaldi, T., Todisco, S.   +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, M Fenech, F Mitelman, A Aguilera, SF Bunting, SJ Duthie, MJ Shrubsole, YI Kim, JB Mason, CD Cantarella, R Percudani, R Percudani, ML Salvo di, H Hellmann, AA Booth, P Bilski, SA Denslow, BN Ames, L Galluzzi, S Mocellin, L Galluzzi, B Gylling, A Marzio, P Kanellis, SC Lee, M Brownlee, D Bonnefont-Rousselot, Y Hinokio, MT Goodarzi, E Tatsch, P Graham, RS Garofalo, RW Alfa, LP Musselman, SN Thompson, R Ugrankar, R Bohni, M Tatar, JM Murillo-Maldonado, M Lorenzi, A Rezabakhsh, SE Polo, JP Madigan, PA Jeggo, C Merigliano, H Vlassara, H Stopper, N Schupp, S Golbidi, EA Muellenbach, J Colombani, AT Haselton, SK Kim, G Lee, EJ Rulifson, SJ Broughton, T Ikeya, M Fraser, S Nakamura, M Pischetsrieder, S Nakamura, J Blasiak, PT Clayton, M Okada, JE Leklem, HJ Ahn, WA Nix, M Gatti, S Bonaccorsi, FJ Diaz-Benjumea   +69 more
core   +2 more sources

Outcome of Teriparatide Treatment on Fracture Healing Complications and Symptomatic Bone Marrow Edema in Four Adult Patients With Hypophosphatasia

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, Tim Rolvien, Carolin Linke, Nico Maximilian Jandl, Ralf Oheim, Michael Amling, Florian Barvencik   +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, Huang, Yu-Ming M, Mueller, Leonard J, You, Wanli   +3 more
core   +2 more sources

The endogenous production of hydrogen sulphide in intrauterine tissues [PDF]

, 2009
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., Heptinstall, John, Patel, Pushpa, Vatish, Manu, Wang, Rui   +4 more
core   +5 more sources