On the edge—A diagnostic odyssey [PDF]
Clinical Case Reports, 2022 The diagnostic odyssey of a child with epileptic encephalopathy was resolved by rapid whole genome sequencing. This identified a rare form of pyridoxine responsive epilepsy due to a pathogenic variant in PLPBP.
Hailey McLean +5 more
doaj +3 more sources
Host Plasma Microenvironment in Immunometabolically Impaired HIV Infection Leads to Dysregulated Monocyte Function and Synaptic Transmission Ex Vivo [PDF]
Advanced ScienceRisk stratification using multi‐omics data deepens understanding of immunometabolism in successfully treated people with HIV (PWH) is inadequately explained.
Flora Mikaeloff +32 more
doaj +5 more sources
Pleiotropic effects of PipX, PipY, or RelQ overexpression on growth, cell size, photosynthesis, and polyphosphate accumulation in the cyanobacterium Synechococcus elongatus PCC7942 [PDF]
Frontiers in Microbiology, 2023 The cyanobacterial protein PipY belongs to the Pyridoxal-phosphate (PLP)-binding proteins (PLPBP/COG0325) family of pyridoxal-phosphate-binding proteins, which are represented in all three domains of life.
Antonio Llop +6 more
doaj +4 more sources
Distinctive Features of PipX, a Unique Signaling Protein of Cyanobacteria [PDF]
Life, 2020 PipX is a unique cyanobacterial protein identified by its ability to bind to PII and NtcA, two key regulators involved in the integration of signals of the nitrogen/carbon and energy status, with a tremendous impact on nitrogen assimilation and gene ...
Jose I. Labella +4 more
doaj +4 more sources
Mechanism of Pyridoxine 5'-Phosphate Accumulation in Pyridoxal 5'-Phosphate-Binding Protein Deficiency. [PDF]
Journal of Bacteriology, 2022 Diana M Downs +2 more
exaly +3 more sources
Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review [PDF]
Children, 2023 Background: Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and ...
Mario Mastrangelo +5 more
doaj +2 more sources
Mutational analyses reveal PLP-independent functions at PipY, the cyanobacterial paradigm for pyridoxal-phosphate binding proteins [PDF]
Scientific ReportsPyridoxal-phosphate binding proteins (PLPBP) are involved in the homeostasis of B6 vitamers and amino/keto acids, share a high degree of sequence conservation and are represented in all three domains of life. Despite the obligate presence of the catalyst
Antonio Llop +2 more
doaj +2 more sources
Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research
Annals of the Child Neurology Society, 2023 Pyridoxine‐dependent epilepsy (PDE) was historically defined by a dramatic clinical response to a trial of pyridoxine and the re‐emergence of seizures after withdrawal of pyridoxine.
Curtis R. Coughlin II +1 more
doaj +2 more sources
Pyridoxine-dependent and other pyridoxine-responsive epilepsies—insights into phenotype overlapping and the long-term outcome in a cohort of 21 children [PDF]
Frontiers in NeurologyAimEvaluation of etiology, phenotype, and long-term outcome, and defining the predictors of outcome in children with pyridoxine-responsive seizures.MethodsThe study included all children with pyridoxine-responsive seizures treated in our hospital from ...
Ružica Kravljanac +2 more
doaj +2 more sources
Optimal management after paediatric lumbar puncture: a randomized controlled trial
BMC Neurology, 2019 Background To evaluate whether a shorter time of lying supine without a pillow and fasting for solids and liquids (LSFSL) after a lumbar puncture (LP) is associated with a higher risk of post-lumbar puncture headache (PLPH) and post-lumbar puncture lower
Bing Hu +7 more
doaj +2 more sources