Results 141 to 150 of about 50,057 (258)
Analysis of Nonsense‐Mediated mRNA Decay in Mammalian Cells
Current Protocols in Cell Biology, 2012 AbstractThe nonsense‐mediated mRNA decay (NMD) pathway acts to selectively identify and degrade mRNAs that contain a premature translation termination codon (PTC), and hence reduce the accumulation of potentially toxic truncated proteins. NMD is one of the best studied mRNA quality‐control mechanisms in eukaryotes, and it has become clear during recent
Nicholson Pamela +2 more
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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
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Reactivation of nonsense-mediated mRNA decay protects against C9orf72 dipeptide-repeat neurotoxicity
Brain : a journal of neurology, 2019 Impaired RNA metabolism has been implicated in amyotrophic lateral sclerosis (ALS). Xu et al. report that the nonsense-mediated mRNA decay (NMD) pathway is inhibited in C9orf72 hexanucleotide repeat expansion-associated ALS.
Wangchao Xu +11 more
semanticscholar +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
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Mechanism of Nonsense-Mediated mRNA Decay Stimulation by Splicing Factor SRSF1
Cell Reports, 2018 SUMMARY The splicing factor SRSF1 promotes nonsense-mediated mRNA decay (NMD), a quality control mechanism that degrades mRNAs with premature termination codons (PTCs).
I. Aznarez +6 more
semanticscholar +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
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