Translation matters: protein synthesis defects in inherited disease

Scheper, G.C., van der Knaap, M.S. and Proud, C.G. (2007) Translation matters: protein synthesis defects in inherited disease Nature Reviews Genetics, 8, (9), pp. 711-723. (doi:10.1038/nrg2142).


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The list of genetic diseases caused by mutations that affect mRNA translation is rapidly growing. Although protein synthesis is a fundamental process in all cells, the disease phenotypes show a surprising degree of heterogeneity. Studies of some of these diseases have provided intriguing new insights into the functions of proteins involved in the process of translation; for example, evidence suggests that several have other functions in addition to their roles in translation. Given the numerous proteins involved in mRNA translation, it is likely that further inherited diseases will turn out to be caused by mutations in genes that are involved in this complex process.

Item Type: Article
Digital Object Identifier (DOI): doi:10.1038/nrg2142
ISSNs: 1471-0056 (print)
ePrint ID: 56710
Date :
Date Event
1 September 2007Published
Date Deposited: 11 Aug 2008
Last Modified: 16 Apr 2017 17:40
Further Information:Google Scholar

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