OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy.

  • White K
  • Davies V
  • Hogan V
 et al. 
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Abstract

To examine retinal ganglion cell (RGC) and axonal abnormalities in an ENU-induced mutant mouse carrying a protein-truncating nonsense mutation in OPA1. Mutations in the OPA1 gene cause autosomal dominant optic atrophy (ADOA) in which loss of RGCs followed by myelin degeneration in the optic nerve leads to progressive decrease in visual acuity.

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Authors

  • Kathryn E White

  • Vanessa J Davies

  • Vanessa E Hogan

  • Malgorzata J Piechota

  • Philip P Nichols

  • Douglas M Turnbull

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