Results 121 to 130 of about 41,960 (230)
HTLV-1 Tax plugs and freezes UPF1 helicase leading to nonsense-mediated mRNA decay inhibition
Nature Communications, 2018 UPF1 is a central protein in nonsense-mediated mRNA decay (NMD), but contribution of its RNA processivity to NMD is unclear. Here, the authors show how the retroviral Tax protein interacts with and inhibits UPF1, and demonstrate that UPF1’s translocase ...
Francesca Fiorini +7 more
doaj +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise +2 more
wiley +1 more source
Therapeutic Nonsense Suppression Modalities: From Small Molecules to Nucleic Acid-Based Approaches
BiomedicinesNonsense mutations are genetic mutations that create premature termination codons (PTCs), leading to truncated, defective proteins in diseases such as cystic fibrosis, neurofibromatosis type 1, Dravet syndrome, Hurler syndrome, Beta thalassemia ...
Pedro Morais, Rui Zhang, Yi-Tao Yu
doaj +1 more source
Novel MYL1 Intron Variant With Expanded Phenotype
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington +7 more
wiley +1 more source
CellsGIGYF2 (Grb10-interacting GYF protein 2) functions as a versatile adaptor protein that regulates gene expression at various levels. At the transcriptional level, GIGYF2 facilitates VCP/p97-mediated extraction of ubiquitylated Rpb1 from stalled RNA ...
Chen-Shuo Zhao +4 more
doaj +1 more source
Transcriptome assemblies for two drug‐type cannabis chemotypes by long‐read RNA sequencing
The Plant Genome, Volume 19, Issue 2, June 2026.Abstract Cannabis sativa has undergone over 10,000 years of domestication, resulting in extensive genetic and phenotypic diversity among cultivated chemotypes. Increased medical and recreational use of specialized metabolites accumulating in cannabis glandular trichomes—primarily the cannabinoids ∆9‐tetrahydrocannabinol (THC) and cannabidiol (CBD)—has ...
Oliver Berkowitz +5 more
wiley +1 more source
Conservation of Neuron‐Astrocyte Correlated Activity in Developing Sensory Pathways
Glia, Volume 74, Issue 5, May 2026.Astrocytes and neurons in the superior colliculus exhibit spatiotemporal correlated activity before eye opening. Each neuronal wave is followed by a calcium wave in astrocytes. Spillover of glutamate activates mGluR5 and mGluR3 in astrocytes. ABSTRACT Neurons in developing sensory organs exhibit prolonged burst firing before the onset of sensory ...
Vered Kellner +8 more
wiley +1 more source
A GFP-based reporter system to monitor nonsense-mediated mRNA decay [PDF]
, 2017 Aberrant mRNAs whose open reading frame (ORF) is truncated by the presence of a premature translation-termination codon (PTC) are recognized and degraded in eukaryotic cells by a process called nonsense-mediated mRNA decay (NMD).
Azzalin, Claus M. +4 more
core
Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.ABSTRACT Aminoacyl‐tRNA synthetases (aaRS) are essential enzymes that charge tRNAs with their corresponding amino acids, playing a critical role in protein synthesis. All 37 nuclear‐encoded ARS genes, comprising both cytosolic (ARS1) and mitochondrial (ARS2) isoforms, have now been linked to human disease.
M. I. Mendes +17 more
wiley +1 more source