Translation matters: Protein synthesis defects in inherited disease

Gert C. Scheper, Marjo S. Van Der Knaap, Christopher G. Proud

Research output: Contribution to journalReview article

170 Citations (Scopus)


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.

Number of pages13
JournalNature Reviews Genetics
Issue number9
Publication statusPublished - 1 Sep 2007

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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