Munc13 proteins are essential regulators of neurotransmitter release at nerve cell synapses. They mediate the priming step that renders synaptic vesicles fusion-competent, and their genetic elimination causes a complete block of synaptic transmission. Here we have described a patient displaying a disorder characterized by a dyskinetic movement disorder, developmental delay, and autism.
View Article and Find Full Text PDFJ Anaesthesiol Clin Pharmacol
January 2016
Background And Aims: Emergence time, or the duration between incision closure and extubation, is costly nonoperative time. Efforts to improve operating room efficiency and identify trainee progress make such time intervals of interest. We sought to calculate the incidence of prolonged emergence (i.
View Article and Find Full Text PDFBeta-amyloid (Aβ) immunotherapy is a promising intervention to slow Alzheimer's disease. Aging dogs naturally accumulate Aβ and show cognitive decline. An active vaccine against fibrillar Aβ 1-42 (VAC) in aged beagles resulted in maintenance but not improvement of cognition along with reduced brain Aβ.
View Article and Find Full Text PDFPresynaptic calcium channel function is critical for converting electrical information into chemical communication but the molecules in the active zone that sculpt this function are poorly understood. We show that Munc13, an active-zone protein essential for exocytosis, also controls presynaptic voltage-gated calcium channel (VGCC) function dictating their behavior during various forms of activity. We demonstrate that in vitro Munc13 interacts with voltage-VGCCs via a pair of basic residues in Munc13's C2B domain.
View Article and Find Full Text PDFObjectives: The goal was to measure the magnitude of cochlear responses to sound in pediatric cochlear implant recipients at the time of implantation and to correlate this magnitude with subsequent speech perception outcomes.
Design: A longitudinal cohort study of pediatric cochlear implant recipients was undertaken. Intraoperative electrocochleographic (ECoG) recordings were obtained from the round window in response to a frequency series at 90 dB nHL in 77 children totaling 89 ears (12 were second side surgeries) just before device insertion.