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
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
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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
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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
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Aqueous Contact Ion Pairs of Phosphate Groups with Na$^+$, Ca$^{2+}$ and Mg$^{2+}$ -- Structural Discrimination by Femtosecond Infrared Spectroscopy and Molecular Dynamics Simulations [PDF]
, 2020 The extent of contact and solvent shared ion pairs of phosphate groups with Na$^+$, Ca$^{2+}$ and Mg$^{2+}$ ions in aqueous environment and their relevance for the stability of polyanionic DNA and RNA structures is highly debated. Employing the asymmetric phosphate stretching vibration of dimethyl phosphate (DMP), a model system of the sugar-phosphate ...
arxiv +1 more source
Molecular mechanisms of the non-coenzyme action of thiamin in brain. Biochemical, structural and pathway analysis [PDF]
, 2015 Thiamin (vitamin B1) is a pharmacological agent boosting central metabolism through the action of the coenzyme thiamin diphosphate (ThDP). However, positive effects, including improved cognition, of high thiamin doses in neurodegeneration may be ...
Andrey, Vovk +9 more
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Angewandte Chemie, EarlyView.Through the directed evolution of an underexploited nonheme Fe extradiol dioxygenase, we developed a unified cooperative photobiocatalytic strategy to allow for three types of enantioconvergent radical transformations, including azidation, thiocyanation, and isocyanation.
Liu‐Peng Zhao +8 more
wiley +2 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
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Regulation of the Pho Regulon and Reconstruction of the Photosynthetic Apparatus under Phosphate Limitation in Synechocystis sp. PCC 6803 [PDF]
arXiv, 2021 For millennia, cyanobacteria have evolved strategies for acclimatization to dynamic environments- this requires a molecular response system. Phosphate is essential for cellular integrity and metabolism, yet inorganic phosphate is often the limiting nutrient for most aquatic environments.
arxiv
Change of Hydration Patterns upon RNA Melting Probed by Excitations of Phosphate Backbone Vibrations [PDF]
, 2020 The water hydration shell has decisive impact on the structural and functional properties of RNA. Changes of RNA structure upon melting and in biochemical processes are accompanied by a change of hydration patterns, a process which is barely characterized.
arxiv +1 more source