Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Insight into vitamin B6-dependent epilepsy due toPLPBP(previouslyPROSC) missense mutations

24 Apr 2018

Abstract excerpt

-dependent genetic epilepsy was recently associated to mutations in PLPBP (previously PROSC), the human version of the widespread COG0325 gene that encodes TIM-barrel-like pyridoxal phosphate (PLP)-containing proteins of unclear function. We produced recombinantly, purified and characterized human PROSC (called now PLPHP) and its six missense mutants reported in epileptic patients. Normal PLPHP is largely a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Folate and B Vitamins Research
Share to Genomics and Rare Diseases
Share to Metabolism and Genetic Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 29689137
DOI: 10.1002/humu.23540

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Insight into vitamin B6-dependent epilepsy due toPLPBP(previouslyPROSC) missense mutationsPMID 29689137Read ↗

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.Semantic proximity Read ↗

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insightsSemantic proximity Read ↗

Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy.Semantic proximity Read ↗

The pyridoxal 5'-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT): effects of the small subunits and insights from bacterial mimics of human hLCB2a HSAN1 mutations.Semantic proximity Read ↗

Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene.Semantic proximity Read ↗

Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy.Semantic proximity Read ↗

Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.Semantic proximity Read ↗

Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.Semantic proximity Read ↗

Protein S Gla-domain mutations causing impaired Ca(2+)-induced phospholipid binding and severe functional protein S deficiency.Semantic proximity Read ↗

Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy.Semantic proximity Read ↗

Mutational analyses reveal PLP-independent functions at PipY, the cyanobacterial paradigm for pyridoxal-phosphate binding proteins.Semantic proximity Read ↗

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.