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Cell Membrane- and Extracellular Vesicle-Coated Chitosan Methacrylate-Tripolyphosphate Nanoparticles for RNA Delivery.
Int J Mol Sci
December 2024
School of Materials Science and Engineering, Nanyang Technological University, Singapore 639798, Singapore.
mRNA-based vaccines against the COVID-19 pandemic have propelled the use of nucleic acids for drug delivery. Conventional lipid-based carriers, such as liposomes and nanolipogels, effectively encapsulate and deliver RNA but are hindered by issues such as premature burst release and immunogenicity. To address these challenges, cell membrane-coated nanoparticles offer a promising alternative.
View Article and Find Full Text PDFPlural molecular and cellular mechanisms of pore domain encephalopathy.
Elife
January 2025
Department of Neurology, Baylor College of Medicine, Houston, United States.
Article Synopsis
- Variants associated with neurodevelopmental impairments in children are complex and challenging to evaluate due to their diverse nature and unclear causes.
- The study highlights a case of a child with neonatal-onset epilepsy and a specific genetic variant (G256W) that impacts ion channel function and leads to reduced cell stability and conduction in nervous tissue.
- The research also establishes a mouse model that exhibits epilepsy and hyperexcitability in brain cells, linking the genetic variant to observable neurological behaviors and suggesting potential wider implications for understanding similar conditions in other patients.
When "loss-of-function" means proteostasis burden: Thinking again about coding DNA variants.
Am J Hum Genet
January 2025
Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Each human genome has approximately 5 million DNA variants. Even for complete loss-of-function variants causing inherited, monogenic diseases, current understanding based on gene-specific molecular function does not adequately predict variability observed between people with identical mutations or fluctuating disease trajectories. We present a parallel paradigm for loss-of-function variants based on broader consequences to the cell when aberrant polypeptide chains of amino acids are translated from mutant RNA to generate mutated proteins.
View Article and Find Full Text PDFWhich aEEG patterns could predict neurodevelopmental outcome in preterm neonates? - A systematic review.
Brain Dev
December 2024
Professor of Neurology, School of Medicine, and Brain Institute (BraIns) Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, RS, Brazil. Electronic address:
Article Synopsis
- Amplitude-integrated electroencephalogram (aEEG) is a tool for continuous monitoring of brain function in preterm infants and may help predict their neurodevelopmental outcomes.
- A systematic review of 19 studies involving 2074 preterm neonates showed that specific aEEG patterns, such as burst suppression and low voltage backgrounds, are linked to poorer outcomes, while normal backgrounds predict better development.
- Early monitoring of aEEG, particularly within the first week of life, is crucial for accurately assessing the neurodevelopmental prognosis of preterm infants.
Engineered tRNAs efficiently suppress CDKL5 premature termination codons.
Sci Rep
December 2024
Department of Medical Biotechnology and Translational Medicine, University of Milan, Segrate (Milan), 20054, Italy.
The CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental disorder characterized by early-onset epilepsy, intellectual disability, motor and visual dysfunctions. The causative gene is CDKL5, which codes for a kinase required for brain development. There is no cure for CDD patients; treatments are symptomatic and focus mainly on seizure control.
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