Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases [PDF]
Frontiers in Neurology, 2022 PLPHP (pyridoxal-phosphate homeostasis protein) deficiency is caused by biallelic pathogenic variants in PLPBP and is a rare cause of pyridoxine-responsive disorders. We describe three French-Canadian individuals with PLPHP deficiency, including one with
Daniela Buhas +2 more
exaly +6 more sources
Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene [PDF]
JIMD Reports, 2019 Vitamin B6‐responsive epilepsies are a group of genetic disorders including ALDH7A1 deficiency, PNPO deficiency, and others, usually causing neonatal onset seizures resistant to treatment with common antiepileptic drugs.
Sabine Grønborg +2 more
exaly +4 more sources
Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature [PDF]
JIMD Reports, 2021 Vitamin B6‐dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal‐5′‐phosphate (PLP).
Sarah Donoghue, Oliver Heath
exaly +4 more sources
The Conserved Family of the Pyridoxal Phosphate-Binding Protein (PLPBP) and Its Cyanobacterial Paradigm PipY [PDF]
Life, 2022 The PLPBP family of pyridoxal phosphate-binding proteins has a high degree of sequence conservation and is represented in all three domains of life. PLPBP members, of which a few representatives have been studied in different contexts, are single-domain ...
Asuncion Contreras +2 more
exaly +4 more sources
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights [PDF]
Brain, 2019 Biallelic pathogenic variants in PLPBP (formerly called PROSC) have recently been shown to cause a novel form of vitamin B6-dependent epilepsy, the pathophysiological basis of which is poorly understood. When left untreated, the disease can progress to status epilepticus and death in infancy.
Pena Ia +2 more
exaly +14 more sources
Characterization of the Escherichia coli pyridoxal 5′‐phosphate homeostasis protein (YggS): Role of lysine residues in PLP binding and protein stability [PDF]
Protein Science, 2022 Abstract The pyridoxal 5′‐phosphate (PLP) homeostasis protein (PLPHP) is a ubiquitous member of the COG0325 family with apparently no catalytic activity. Although the actual cellular role of this protein is unknown, it has been observed that mutations of the PLPHP encoding gene affect the activity of PLP‐dependent enzymes, B6 vitamers and amino acid ...
Roberto Contestabile
exaly +3 more sources
Natural variation of HTH5 from wild rice, Oryza rufipogon Griff., is involved in conferring high‐temperature tolerance at the heading stage [PDF]
Plant Biotechnology Journal, 2022 Summary Global warming is a major abiotic stress factor, which limit rice production. Exploiting the genetic basis of the natural variation in heat resistance at different reproductive stages among diverse exotic Oryza germplasms can help breeding heat‐resistant rice cultivars.
Jianlin Wan
exaly +3 more sources
Pyridoxine-dependent epilepsy: Current perspectives and questions for future research. [PDF]
Ann Child Neurol Soc, 2023 Abstract 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. Research conducted over the last seven decades has revealed that the phenotype of PDE results from multiple genetic disorders, and the most common disorder, PDE ...
Coughlin CR, Gospe SM.
europepmc +2 more sources
Purine limitation prevents the exogenous pyridoxal 5′-phosphate accumulation of Salmonella enterica yggS mutants [PDF]
Microbiology SpectrumYggS belongs to the highly conserved pyridoxal 5′-phosphate (PLP) binding protein family (COG0325) that is found in all domains of life. Though no precise biochemical activity or molecular mechanism has been determined for this protein, an involvement in
Kailey S. Ezekiel, Diana M. Downs
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