Translation matters: protein synthesis defects in inherited disease
Translation matters: protein synthesis defects in inherited disease
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.
711-723
Scheper, G.C.
f82821cd-4256-4df9-943b-31760b4aa176
van der Knaap, M.S.
f828b7b4-c968-4d56-bd5d-1c1033dd8dfc
Proud, C.G.
c2cc50f9-4565-4d59-9dfc-aa70b9268a6e
1 September 2007
Scheper, G.C.
f82821cd-4256-4df9-943b-31760b4aa176
van der Knaap, M.S.
f828b7b4-c968-4d56-bd5d-1c1033dd8dfc
Proud, C.G.
c2cc50f9-4565-4d59-9dfc-aa70b9268a6e
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), .
(doi:10.1038/nrg2142).
Abstract
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.
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Published date: 1 September 2007
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Local EPrints ID: 56710
URI: http://eprints.soton.ac.uk/id/eprint/56710
ISSN: 1471-0056
PURE UUID: fee5caf9-5124-46b8-88d1-b015c8c06421
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Date deposited: 11 Aug 2008
Last modified: 15 Mar 2024 11:03
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Author:
G.C. Scheper
Author:
M.S. van der Knaap
Author:
C.G. Proud
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