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Nat Rev Neurosci. 2018 Dec;19(12):715-728. doi: 10.1038/s41583-018-0079-z.

Nonsense-mediated RNA decay in the brain: emerging modulator of neural development and disease.

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Department of Pharmacology, Weill Medical College, Cornell University, New York, NY, USA.
Department of Obstetrics, Gynecology & Reproductive Sciences, University of California, La Jolla, CA, USA.


Steady-state RNA levels are controlled by the balance between RNA synthesis and RNA turnover. A selective RNA turnover mechanism that has received recent attention in neurons is nonsense-mediated RNA decay (NMD). NMD has been shown to influence neural development, neural stem cell differentiation decisions, axon guidance and synaptic plasticity. In humans, NMD factor gene mutations cause some forms of intellectual disability and are associated with neurodevelopmental disorders, including schizophrenia and autism spectrum disorder. Impairments in NMD are linked to neurodegenerative disorders, including amyotrophic lateral sclerosis. We discuss these findings, their clinical implications and challenges for the future.


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