The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.

@article{Barca2016TheMS,
  title={The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.},
  author={Juan Manuel Chao de la Barca and Gilles Simard and Patrizia Amati-Bonneau and Zainab Safiedeen and Delphine Prunier-Mirebeau and St{\'e}phanie Chupin and C{\'e}dric Gadras and Lydie Tessier and Na{\"i}g Gu{\'e}guen and Arnaud Chevrollier and Val{\'e}rie Desquiret-Dumas and Marc Ferr{\'e} and Celine Bris and Judith Kouassi Nzoughet and Cinzia Bocca and St{\'e}phanie Leruez and Christophe Verny and Dan Milea and Dominique Bonneau and Guy Lenaers and Maria Carmen Mart{\'i}nez and Vincent Procaccio and Pascal Reynier},
  journal={Brain : a journal of neurology},
  year={2016},
  volume={139 11},
  pages={
          2864-2876
        }
}
Leber's hereditary optic neuropathy (MIM#535000), the commonest mitochondrial DNA-related disease, is caused by mutations affecting mitochondrial complex I. The clinical expression of the disorder, usually occurring in young adults, is typically characterized by subacute, usually sequential, bilateral visual loss, resulting from the degeneration of retinal ganglion cells. [...] Key Method High performance liquid chromatography coupled with tandem mass spectrometry was used to quantify 188 metabolites in…Expand Abstract
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