Results 1 to 10 of about 55,337 (248)

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) [PDF]

, 2017
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, Baxter, Peter, Christensen, Ernst, Clayton, Peter T., Craigen, William J., De Lonlay, Pascale, Dulac, Olivier, Feillet, François, Footitt, Emma J., Hemingway, Cheryl, Hughes, M. Imelda, Jakobs, Cornelis, Marlow, Neil, Mills, Kevin A., Mills, Philippa B., Nabbout, Rima, Pike, Mike G., Rennie, Janet, Schmitt, Bernhard, Struys, Eduard A., Tuschl, Karin, Varadkar, Sophia, Zuberi, Sameer M.   +22 more
core  

B-Vitamins in Epileptics [PDF]

, 1986
Arab, L., Berlit, Peter, Bonjour, Jean-Pierre, Krause, Klaus-Henning, Kynast, Gisela, Schmidt-Gayk, Heinrich, Somogyi, Johann C.   +6 more
core   +1 more source

Vitamin B6-dependent epilepsy due to pyridoxal phosphate-binding protein (PLPBP) defect - First case report from Pakistan and review of literature. [PDF]

Ann Med Surg (Lond), 2020
Ahmed S, DeBerardinis RJ, Ni M, Afroze B.   +3 more
europepmc   +1 more source

Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate. [PDF]

Neuropediatrics
Brands MM, de Puyraimond C, Gospe SM, Schiff MM, Jaeger B, Koot BG, Raphael MF, Lubout CM, Soto B, Delanne J, Imbard A, Zempel J, Kraal KC, Scheenstra R, Clayton PT.   +14 more
europepmc   +1 more source

Mutational analyses reveal PLP-independent functions at PipY, the cyanobacterial paradigm for pyridoxal-phosphate binding proteins. [PDF]

Sci Rep
Llop A, Tremiño L, Contreras A.
europepmc   +1 more source

Biosynthesis of Ephedrine Initiated by Pyridoxal Phosphate-Dependent Formation of Cathinone. [PDF]

Chembiochem
Witte K, Behrens A, Schwelm HM, Auwärter V, Müller M.   +4 more
europepmc   +1 more source

A fluorescent hydrazone exchange probe of pyridoxal phosphate for the assessment of vitamin B6 status. [PDF]

Chem Commun (Camb), 2019
Jun YW, Hebenbrock M, Kool ET.
europepmc   +1 more source

Pyridoxal Phosphate Measurement [PDF]

, 2020
openaire   +1 more source

MilM from mildiomycin biosynthesis is an oxygen-, pyridoxal phosphate-dependent arginine hydroxylase. [PDF]

J Biol Chem
Edwards KEK, Wolf ME, Eltis LD, Ryan KS.
europepmc   +1 more source

Moderate pyridoxal phosphate deficiency enhances neuronal excitability and promotes calcium dysregulation. [PDF]

Front Neurosci
Girgis V, Tharington A, Trivett J, Fitting S, Meeker RB, Rubinos C.   +5 more
europepmc   +1 more source