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Khabre desk
Recent reporting, analysis and explainers from the RNA splicing desk.
science
A bioRxiv preprint reports that increased nuclear acetyl-CoA in lab-grown neurons from people with sporadic Alzheimer’s disease was linked to altered RNA-protein acetylation and splicing. Inhibiting the enzyme ACLY reversed these changes in the cell model.
health
A medRxiv preprint describes a six-site RNA-splicing signature that distinguished 19 people with a specific RNU4-2 variant from study controls. The researchers propose it as a biomarker for therapeutic development, with results so far focused on T-loop variants.
health
A medRxiv preprint maps a COL4A5 intronic mutation hotspot and reports that one antisense oligonucleotide restored normal RNA splicing and collagen expression for multiple variants in patient-derived cells. The work is a preclinical study, with no treatment of patients reported.