Translation matters: protein synthesis defects in inherited disease

  title={Translation matters: protein synthesis defects in inherited disease},
  author={G. Scheper and M. S. Knaap and C. Proud},
  journal={Nature Reviews Genetics},
  • G. Scheper, M. S. Knaap, C. Proud
  • Published 2007
  • Biology, Medicine
  • Nature Reviews Genetics
  • 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… CONTINUE READING

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    • 1,172
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    • 896