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Casting an eye on the Krebs cycle

A new study identifies recessive, loss-of-function mutations in IDH3B, encoding a subunit of the NAD-specific isocitrate dehydrogenase, in individuals with retinitis pigmentosa. The lack of any obvious clinical signs in other tissues in these individuals forces a reassessment of the physiological role of this enzyme outside of the retina.

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Figure 1: The Krebs cycle.


  1. Hartong, D.T. et al. Nat. Genet. 40, 1230–1234 (2008).

    Article  CAS  Google Scholar 

  2. Brière, J.J. et al. Am. J. Physiol. Cell Physiol. 291, 1114–1120 (2006).

    Article  Google Scholar 

  3. Bourgeron, T. et al. J. Clin. Invest. 93, 2514–2518 (1994).

    Article  CAS  Google Scholar 

  4. Bourgeron, T. et al. Nat. Genet. 11, 144–149 (1995).

    Article  CAS  Google Scholar 

  5. Haworth, J.C. et al. Pediatrics 58, 564–572 (1976).

    CAS  PubMed  Google Scholar 

  6. Elpeleg, O. et al. Am. J. Hum. Genet. 76, 1081–1086 (2005).

    Article  CAS  Google Scholar 

  7. Ostergaard, E. et al. Am. J. Hum. Genet. 81, 383–387 (2007).

    Article  CAS  Google Scholar 

  8. Tomlinson, I.P. et al. Nat. Genet. 30, 406–410 (2002).

    Article  CAS  Google Scholar 

  9. Baysal, B.E. et al. Science 287, 848–851 (2000).

    Article  CAS  Google Scholar 

  10. Astuti, D. et al. Am. J. Hum. Genet. 69, 49–54 (2001).

    Article  CAS  Google Scholar 

  11. Niemann, S. & Müller, U. Nat. Genet. 26, 268–270 (2000).

    Article  CAS  Google Scholar 

  12. Pollard, P.J. et al. Hum. Mol. Genet. 14, 2231–2239 (2005).

    Article  CAS  Google Scholar 

  13. Maxwell, P.H. et al. Proc. Natl. Acad. Sci. USA 94, 8104–8109 (1997).

    Article  CAS  Google Scholar 

  14. Gimenez-Roqueplo, A.P. et al. Am. J. Hum. Genet. 69, 1186–1197 (2001).

    Article  CAS  Google Scholar 

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Munnich, A. Casting an eye on the Krebs cycle. Nat Genet 40, 1148–1149 (2008).

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