Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy [PDF]
American Journal of Human Genetics, 2016 Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation. A deficiency of PLP can present, therefore, as seizures and other symptoms that are treatable with PLP and/or pyridoxine.
Peter Theodore Clayton +2 more
exaly +8 more sources
Insight into vitamin B6-dependent epilepsy due toPLPBP(previouslyPROSC) missense mutations [PDF]
Human Mutation, 2018 Vitamin B6 -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.
Lorena Tremiño +2 more
openaire +4 more sources
Cloning and Characterization of Human and Mouse PROSC (Proline Synthetase Co-Transcribed) Genes [PDF]
Journal of Human Genetics, 1999 Large-scale DNA sequencing, coupled with in silico gene trapping, is a robust approach to identifying unknown genes in selected genomic regions. Using this approach we have isolated a novel human gene, PROSC (for proline synthetase co-transcribed [bacterial homolog]), from human chromosome 8p11.2, and its mouse counterpart. The human PROSC gene spanned
Yusuke Nakamura +2 more
exaly +3 more sources
Journal of Electrophoresis, 2008 We examined the PCR differential display analysis of cDNA clones from human leukemia K562 cell line and those of cytosine arabinoside (ara-C) resistant K562 cells. We compared mRNA samples obtained from the two cell lines by amplified restriction fragment length polymorphism (AFLP)-based mRNA fingerprinting; 40 bands were observed in each lane of a gel,
Kuniaki Saito
exaly +3 more sources
Treatable Cause of Refractory Seizures in an Infant With a Novel Mutation.
Journal of Pediatric Neurosciences, 2021 James Saji
exaly +2 more sources
A new approach to OSCE preparation - PrOSCEs [PDF]
BMC Medical Education, 2019 Objectively structured clinical examinations (OSCEs) are a stressful experience for many health care students and professionals in training. Mock OSCEs have been shown to be beneficial for student OSCE preparation. However, due to their expense and administrative burden students may only get a few opportunities to partake in these.
James Bevan +2 more
openaire +5 more sources
Procedural Sedation in the Community Emergency Department: Initial Results of the ProSCED Registry [PDF]
Academic Emergency Medicine, 2007 Abstract Objectives Procedural sedation and analgesia (PSA) has been well profiled in experimental studies in university emergency departments. Extrapolation of these practices into the community hospital setting is not well established. This report describes community hospital
Alfred, Sacchetti +3 more
openaire +2 more sources
Impact of Awareness Time Interval on the Effect of Bystander Cardiopulmonary Resuscitation on Out-of-Hospital Cardiac Arrest: A Nationwide Study. [PDF]
Yonsei Med J, 2023 Lee SY +4 more
europepmc +1 more source
External validation and insights about the calibration of the return of spontaneous circulation after cardiac arrest (RACA) score. [PDF]
Resusc Plus, 2022 Gamberini L +12 more
europepmc +1 more source
Efficient production of bacterial antibiotics aminoriboflavin and roseoflavin in eukaryotic microorganisms, yeasts. [PDF]
Microb Cell Fact, 2023 Dmytruk KV +11 more
europepmc +1 more source