Mutation of genes controlling mRNA metabolism and protein synthesis predisposes to neurodevelopmental disorders.

Abstract:

: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.

journal_name

Biochem Soc Trans

authors

Sartor F,Anderson J,McCaig C,Miedzybrodzka Z,Müller B

doi

10.1042/BST20150168

subject

Has Abstract

pub_date

2015-12-01 00:00:00

pages

1259-65

issue

6

eissn

0300-5127

issn

1470-8752

pii

BST20150168

journal_volume

43

pub_type

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