Cargando…

Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5′-Phosphate Oxidase-Dependent Epilepsy

Several variants of the enzyme pyridox(am)ine 5′-phosphate oxidase (PNPO), responsible for a rare form of vitamin B(6)-dependent neonatal epileptic encephalopathy known as PNPO deficiency (PNPOD), have been reported. However, only a few of them have been characterised with respect to their structura...

Descripción completa

Detalles Bibliográficos
Autores principales:	Barile, Anna, Mills, Philippa, di Salvo, Martino L., Graziani, Claudio, Bunik, Victoria, Clayton, Peter, Contestabile, Roberto, Tramonti, Angela
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8584306/ https://www.ncbi.nlm.nih.gov/pubmed/34769443 http://dx.doi.org/10.3390/ijms222112013

Ejemplares similares

Identification and characterization of the pyridoxal 5’-phosphate allosteric site in Escherichia coli pyridoxine 5’-phosphate oxidase
por: Barile, Anna, et al.
Publicado: (2021)

Molecular characterization of pyridoxine 5′-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy
por: Barile, Anna, et al.
Publicado: (2020)

An LC–MS/MS-Based Method for the Quantification of Pyridox(am)ine 5′-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy
por: Wilson, Matthew P., et al.
Publicado: (2017)

PYRIDOX(AM)INE 5′-PHOSPHATE OXIDASE3 of Arabidopsis thaliana maintains carbon/nitrogen balance in distinct environmental conditions
por: Steensma, Priscille, et al.
Publicado: (2023)

A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5′-Phosphate Oxidase, and PLPBP Deficiency
por: Jiao, Xianru, et al.
Publicado: (2022)

Pyridoxal 5′-Phosphate Is a Slow Tight Binding Inhibitor of E. coli Pyridoxal Kinase
por: Ghatge, Mohini S., et al.
Publicado: (2012)

The expression of four pyridoxal kinase (PDXK) human variants in Drosophila impacts on genome integrity
por: Mascolo, Elisa, et al.
Publicado: (2019)

Characterization of the Escherichia coli pyridoxal 5′‐phosphate homeostasis protein (YggS): Role of lysine residues in PLP binding and protein stability
por: Tramonti, Angela, et al.
Publicado: (2022)

The multifaceted role of vitamin B(6) in cancer: Drosophila as a model system to investigate DNA damage
por: Contestabile, Roberto, et al.
Publicado: (2020)

Metformin Is a Pyridoxal-5′-phosphate (PLP)-Competitive Inhibitor of SHMT2
por: Tramonti, Angela, et al.
Publicado: (2021)

Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO)
por: di Salvo, Martino L., et al.
Publicado: (2017)

Crystal Structures of Human Pyridoxal Kinase in Complex with the Neurotoxins, Ginkgotoxin and Theophylline: Insights into Pyridoxal Kinase Inhibition
por: Gandhi, Amit K., et al.
Publicado: (2012)

Bioconjugates of PAMAM dendrimers with trans-retinal, pyridoxal, and pyridoxal phosphate
por: Filipowicz, A, et al.
Publicado: (2012)

Plasma Pyridoxal 5´-Phosphate Level in Children with Intractable and Controlled Epilepsy
por: PIRZADEH, Zahra, et al.
Publicado: (2017)

A Novel, Easy Assay Method for Human Cysteine Sulfinic Acid Decarboxylase
por: Tramonti, Angela, et al.
Publicado: (2021)

Variable treatment response in a patient with pyridoxal N phosphate oxidase (PNPO) deficiency- understanding the paradox
por: Mohanlal, Smilu, et al.
Publicado: (2020)

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation
por: Chelban, Viorica, et al.
Publicado: (2019)

Isolation of a Complex Formed Between Acinetobacter baumannii HemA and HemL, Key Enzymes of Tetrapyrroles Biosynthesis
por: Nardella, Caterina, et al.
Publicado: (2019)

Enzyme-independent catabolism of cysteine with pyridoxal-5′-phosphate
por: Mulay, Prajakatta, et al.
Publicado: (2023)

Inactive mutants of human pyridoxine 5′‐phosphate oxidase: a possible role for a noncatalytic pyridoxal 5′‐phosphate tight binding site
por: Ghatge, Mohini S., et al.
Publicado: (2016)

Pyridoxal 5′-Phosphate-Dependent Enzymes at the Crossroads of Host–Microbe Tryptophan Metabolism
por: Cellini, Barbara, et al.
Publicado: (2020)

Versatility of Pyridoxal Phosphate as a Coating of Iron Oxide Nanoparticles
por: Bonvin, Debora, et al.
Publicado: (2017)

Bacteria and Virus Inactivation: Relative Efficacy and Mechanisms of Peroxyacids and Chlor(am)ine
por: Wang, Junyue, et al.
Publicado: (2023)

Association of Serum Pyridoxal-5′-Phosphate, Pyridoxal, and PAr with Colorectal Cancer Risk: A Large-Scale Case-Control Study
por: Xu, Lei, et al.
Publicado: (2022)

Pyridoxal-5′-Phosphate-Dependent Alkyl Transfer in Nucleoside Antibiotic Biosynthesis
por: Cui, Zheng, et al.
Publicado: (2020)

West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature
por: Gibaud, Marc, et al.
Publicado: (2021)

Inés
por: Garro, Elena
Publicado: (1995)

Inés /
por: Garro, Elena
Publicado: (2008)

Evolutionary Trails of Plant Group II Pyridoxal Phosphate-Dependent Decarboxylase Genes
por: Kumar, Rahul
Publicado: (2016)

Direct visualization of critical hydrogen atoms in a pyridoxal 5′-phosphate enzyme
por: Dajnowicz, Steven, et al.
Publicado: (2017)

Mining the cellular inventory of pyridoxal phosphate-dependent enzymes with functionalized cofactor mimics
por: Hoegl, Annabelle, et al.
Publicado: (2018)

Current Advances on Structure-Function Relationships of Pyridoxal 5′-Phosphate-Dependent Enzymes
por: Liang, Jing, et al.
Publicado: (2019)

Comparative genomics of pyridoxal 5′-phosphate-dependent transcription factor regulons in Bacteria
por: Suvorova, Inna A., et al.
Publicado: (2016)

Oxygen reactivity with pyridoxal 5′-phosphate enzymes: biochemical implications and functional relevance
por: Bisello, Giovanni, et al.
Publicado: (2020)

Preparation and characterization of an imogolite/chitosan hybrid with pyridoxal-5′-phosphate as an interfacial modifier
por: Mukai, Masaru, et al.
Publicado: (2021)

Biochemical and Proteomic Studies of Human Pyridoxal 5′-Phosphate-Binding Protein (PLPBP)
por: Fux, Anja, et al.
Publicado: (2019)

Association of Pyridoxal 5′-Phosphate with Sleep-Related Problems in a General Population
por: Ge, Lin, et al.
Publicado: (2022)

Complexation of Gold(III) with Pyridoxal 5′-Phosphate-Derived Hydrazones in Aqueous Solution
por: Kuranova, Natalia N., et al.
Publicado: (2022)

Data from computational analysis of the peptide linkers in the MocR bacterial transcriptional regulators
por: Angelaccio, Sebastiana, et al.
Publicado: (2016)

Structural properties of the linkers connecting the N- and C- terminal domains in the MocR bacterial transcriptional regulators
por: Milano, Teresa, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_bj2s98fg5ga9qqft5ed8eo0qj2