TY - JOUR
T1 - Translation matters
T2 - Protein synthesis defects in inherited disease
AU - Scheper, Gert C.
AU - van der Knaap, Marjo S.
AU - Proud, Christopher G.
N1 - Funding Information:
We thank E. Jan for his careful reading of this manuscript. Work in the authors’ laboratories on mRNA translation and human health is supported by the Canadian Institutes for Health Research, The Multiple Sclerosis Research Society of Canada and the Heart & Stroke Foundation of British Columbia and the Yukon (CGP), and by the Dutch Organization for Scientific Research, W. M. Phelps Stichting and the Optimix Foundation for Scientific Research (GCS, MSvdK).
PY - 2007/9
Y1 - 2007/9
N2 - 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. © 2007 Nature Publishing Group.
AB - 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. © 2007 Nature Publishing Group.
UR - https://www.scopus.com/pages/publications/34548052424
UR - https://www.ncbi.nlm.nih.gov/pubmed/17680008
UR - https://www.scopus.com/pages/publications/34548052424
U2 - 10.1038/nrg2142
DO - 10.1038/nrg2142
M3 - Review article
C2 - 17680008
SN - 1471-0056
VL - 8
SP - 711
EP - 723
JO - Nature reviews. Genetics
JF - Nature reviews. Genetics
IS - 9
ER -