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A lower motor neuron disease in takahē ( Porphyrio hochstetteri ) is an endoplasmic reticulum storage disease.

R D JollyMatthew R F PerrottM R AlleyS A HunterA PasH BeardK M HemsleyG Greaves
Published in: New Zealand veterinary journal (2023)
It was concluded that this was an endoplasmic reticulum storage disease due to a specific protein misfolding within endoplasmic reticulum. It was rationalised that the two types of inclusions reflected the same aetiology, but that misfolded protein in the smaller granular bodies had entered the lysosomal system via endoplasmic reticulum autophagy. Although the cause was unclear, it most likely had a genetic aetiology or predisposition and, as such, has clinical relevance.
Keyphrases
  • endoplasmic reticulum
  • cell death
  • oxidative stress
  • signaling pathway
  • binding protein
  • amino acid
  • genome wide
  • endoplasmic reticulum stress
  • small molecule