Journal
BIOCHEMICAL SOCIETY TRANSACTIONS
Volume 43, Issue -, Pages 1259-1265Publisher
PORTLAND PRESS LTD
DOI: 10.1042/BST20150168
Keywords
autism; intellectual disability; messenger ribonucleic acid (mRNA) export; nonsense-mediated messenger ribonucleic acid (mRNA) decay; splicing; translation initiation
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Funding
- Medical Research Scotland [PhD-654-2012]
- Dundee Cell Products Ltd.
- Fraserburgh Moonlight Prowl
- Chief Scientist Office [CZB/4/556] Funding Source: researchfish
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Brain development is a tightly controlled process that depends upon differentiation and function of neurons to allow for the formation of functional neural networks. Mutation of genes encoding structural proteins is well recognized as causal for neurodevelopmental disorders (NDDs). Recent studies have shown that aberrant gene expression can also lead to disorders of neural development. Here we summarize recent evidence implicating in the aetiology of NDDs mutation of factors acting at the level of mRNA splicing, mRNA nuclear export, translation and mRNA degradation. This highlights the importance of these fundamental processes for human health and affords new strategies and targets for therapeutic intervention.
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