Uncoordinated 13 () affects movement in (). It is responsible for docking, priming, and stabilizing synaptic vesicle fusion complexes in the neuronal synapse and neuromuscular junction (NMJ). It also plays an important role in central nervous system development. We report the detailed clinical history and central nervous system neuropathologic findings in an infantile case with homozygous loss of function variant, in order to advance the understanding of this critically important synaptic vesicle protein. This is the first detailed central nervous system neuropathologic report of this rare case of homozygous loss.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9701132 | PMC |
| http://dx.doi.org/10.7759/cureus.30774 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Rapid lightsheet fluorescence imaging of whole Drosophila brains at nanoscale resolution by potassium acrylate-based expansion microscopy.
Nat Commun
December 2024
Research Center for Applied Sciences, Academia Sinica, Taipei, 11529, Taiwan.
Taking advantage of the good mechanical strength of expanded Drosophila brains and to tackle their relatively large size that can complicate imaging, we apply potassium (poly)acrylate-based hydrogels for expansion microscopy (ExM), resulting in a 40x plus increased resolution of transgenic fluorescent proteins preserved by glutaraldehyde fixation in the nervous system. Large-volume ExM is realized by using an axicon-based Bessel lightsheet microscope, featuring gentle multi-color fluorophore excitation and intrinsic optical sectioning capability, enabling visualization of Tm5a neurites and L3 lamina neurons with photoreceptors in the optic lobe. We also image nanometer-sized dopaminergic neurons across the same intact iteratively expanded Drosophila brain, enabling us to measure the 3D expansion ratio.
View Article and Find Full Text PDFElectrical excitability of neuronal networks based on the voltage threshold of electrical stimulation.
Sci Rep
December 2024
State Key Laboratory of Digital Medical Engineering, Southeast University, Nanjing, 210096, China.
Microelectrode arrays (MEAs) have been widely used in studies on the electrophysiological features of neuronal networks. In classic MEA experiments, spike or burst rates and spike waveforms are the primary characteristics used to evaluate the neuronal network excitability. Here, we introduced a new method to assess the excitability using the voltage threshold of electrical stimulation.
View Article and Find Full Text PDFRapid optical determination of salivary cortisol responses in individuals undergoing physiological and psychological stress.
Sci Rep
December 2024
Research Centre for Biomedical Engineering (RCBE), School of Science and Technology, City, University of London, Northampton Square, London, EC1V 0HB, UK.
Traditional methods for management of mental illnesses in the post-pandemic setting can be inaccessible for many individuals due to a multitude of reasons, including financial stresses and anxieties surrounding face-to-face interventions. The use of a point-of-care tool for self-management of stress levels and mental health status is the natural trajectory towards creating solutions for one of the primary contributors to the global burden of disease. Notably, cortisol is the main stress hormone and a key logical indicator of hypothalamic-pituitary adrenal (HPA) axis activity that governs the activation of the human stress system.
View Article and Find Full Text PDFNS1 binding protein regulates stress granule dynamics and clearance by inhibiting p62 ubiquitination.
Nat Commun
December 2024
Department of Biological Sciences and Biotechnology, College of Life Sciences and Nanotechnology, Hannam University, Daejeon, Korea.
The NS1 binding protein, known for interacting with the influenza A virus protein, is involved in RNA processing, cancer, and nerve cell growth regulation. However, its role in stress response independent of viral infections remains unclear. This study investigates NS1 binding protein's function in regulating stress granules during oxidative stress through interactions with GABARAP subfamily proteins.
View Article and Find Full Text PDFRegionally distinct GFAP promoter expression plays a role in off-target neuron expression following AAV5 transduction.
Sci Rep
December 2024
Institute of Medical Sciences, University of Toronto, 1 King's College Circle, Toronto, ON, M5S 1A8, Canada.
Astrocyte to neuron reprogramming has been performed using viral delivery of neurogenic transcription factors in GFAP expressing cells. Recent reports of off-target expression in cortical neurons following adeno-associated virus (AAV) transduction to deliver the neurogenic factors have confounded our understanding of the efficacy of direct cellular reprogramming. To shed light on potential mechanisms that may underlie the neuronal off-target expression of GFAP promoter driven expression of neurogenic factors in neurons, two regionally distinct cortices were compared-the motor cortex (MC) and medial prefrontal cortex (mPFC)-and investigated: (1) the regional tropism and astrocyte transduction with an AAV5-GFAP vector, (2) the expression of Gfap in MC and mPFC neurons; and (3) material transfer between astrocytes and neurons.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!