Tag: RNA processing
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When Proteins Overcheck: How Overactive Cleanup Disrupts Nuclear Pores in Neurodegenerative Disease
Understanding the link between proteostasis and the nuclear pore Proteostasis, or protein quality control, is essential for cellular health. In neurons, a delicate balance exists to fold, refold, and degrade proteins as needed. When this system becomes overactive or dysregulated, it can misfire against the cell’s own components. One striking target is the nuclear pore…
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Torino: Revealing Hidden mRNA Isoforms Driving Disease at ASHG 2025
Torino Unveils Hidden Isoforms in Disease-Linked Gene Expression At the ASHG 2025 meeting, researchers from the University of Chicago and Columbia University presented Torino, an innovative computational workflow designed to decode transcript structures and quantify isoform expression directly from read coverage in biobank-scale RNA-seq data. This approach challenges the reliance on pre-existing transcript annotations and…