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Trouble in the cell's powerhouse

Studies of rare hereditary disorders are intended to find treatments, but they can also bring other discoveries. One such study links the dysfunction of a protein to that of the cell's energy producers, the mitochondria.

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Figure 1: Out-of-shape organelles lead to disease.


  1. 1.

    *This News & Views article was published online on 7 March 2012.


  1. 1

    Babcock, M. et al. Science 276, 1709–1712 (1997).

    CAS  Article  Google Scholar 

  2. 2

    Van Goethem, G. et al. Neurology 63, 1251–1257 (2004).

    CAS  Article  Google Scholar 

  3. 3

    Engert, J. C. et al. Nat. Genet. 24, 120–125 (2000).

    CAS  Article  Google Scholar 

  4. 4

    Girard, M. et al. Proc. Natl Acad. Sci. USA 109, 1661–1666 (2012).

    ADS  CAS  Article  Google Scholar 

  5. 5

    Kandel, E. R., Schwartz, J. H. & Jessell, T. M. Principles of Neural Science (McGraw-Hill, 2000).

    Google Scholar 

  6. 6

    Bouchard, J. P., Barbeau, A., Bouchard, R. & Bouchard, R. W. Can. J. Neurol. Sci. 5, 61–69 (1978).

    CAS  PubMed  Google Scholar 

  7. 7

    Li, Z., Okamoto, K., Hayashi, Y. & Sheng, M. Cell 119, 873–887 (2004).

    CAS  Article  Google Scholar 

  8. 8

    Twig, G. et al. EMBO J. 27, 433–446 (2008).

    CAS  Article  Google Scholar 

  9. 9

    Ingerman, E. et al. J. Cell Biol. 170, 1021–1027 (2005).

    CAS  Article  Google Scholar 

  10. 10

    Labrousse, A. M., Zappaterra, M. D., Rube, D. A. & van der Bliek, A. M. Mol. Cell 4, 815–826 (1999).

    CAS  Article  Google Scholar 

  11. 11

    Ishihara, N. et al. Nature Cell Biol. 11, 958–966 (2009).

    CAS  Article  Google Scholar 

  12. 12

    Delettre, C. et al. Nat. Genet. 26, 207–210 (2000).

    CAS  Article  Google Scholar 

  13. 13

    Alexander, C. et al. Nat. Genet. 26, 211–215 (2000).

    CAS  Article  Google Scholar 

  14. 14

    Greene, J. C. et al. Proc. Natl Acad. Sci. USA 100, 4078–4083 (2003).

    ADS  CAS  Article  Google Scholar 

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Correspondence to Richard J. Youle.

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Narendra, D., Youle, R. Trouble in the cell's powerhouse. Nature 483, 418–419 (2012).

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