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

This FRAXA-funded project has turned up some surprising results. At first, it might seem Kurosaki and Maquat have found yet another cellular process which is malfunctioning in Fragile X. But this finding is intimately related to previous findings of abnormal protein synthesis and misregulated transcription in Fragile X. FMRP (the protein lacking in Fragile X syndrome) is involved in chaperoning messenger RNAs within cells to active sites, and in controlling their translation into many different proteins. Some of these proteins are transcription factors, which feed back to the nucleus to control gene expression.

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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 (38)