Small-Molecule Inhibitors of Nonsense-Mediated mRNA Decay (NMD) for Fragile X Syndrome

March 6, 2025

This project tests whether small-molecule drugs that reduce overactive nonsense-mediated mRNA decay (NMD) can restore normal gene regulation in Fragile X cells.

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Lynne Maquat

FRAXA Investigator Lynne Maquat Awarded 2023 Gruber Genetics Prize

March 8, 2023

Dr. Maquat discovered NMD, a key surveillance system in the body that protects against mistakes in gene expression. With funding from FRAXA she is tackling Fragile X syndrome.

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Inhibiting Nonsense – Mediated mRNA Decay: A Potential Treatment Approach for Fragile X

September 30, 2021

This team previously discovered runaway nonsense-mediated mRNA decay (NMD) in cells of Fragile X patients. They will now test drugs to reduce NMD.

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Beneath the Surface of Fragile X Syndrome: Study Sheds Light on What’s Happening in Nerve Cells

February 3, 2021

Lynne Maquat discovered that many irregularities in cells that lack FMRP are due to misregulated nonsense-mediated mRNA decay, or NMD. Results published.

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Repurposing Drugs to Dampen Hyperactive Nonsense-Mediated Decay in Fragile X Syndrome

September 8, 2016

FRAXA-funded research showed nonsense-mediated mRNA decay is overactive in Fragile X, pointing to existing NMD-suppressing drugs like caffeine as potential treatments.

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FRAXA Funded Research

Current Research Grants (37)