Enzyme replacement therapy delays pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis.

@article{Whiting2014EnzymeRT,
  title={Enzyme replacement therapy delays pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis.},
  author={Rebecca E. H. Whiting and Kristina L Narfstr{\"o}m and Gang Yao and Jacqueline W. Pearce and Joan R Coates and Leilani J. Castaner and Cheryl A. Jensen and Brittanie N Dougherty and Brian R Vuillemenot and Derek J Kennedy and Charles O'Neill and Martin L. Katz},
  journal={Experimental eye research},
  year={2014},
  volume={125},
  pages={164-72}
}
Late-infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a hereditary neurological disorder characterized by progressive retinal degeneration and vision loss, cognitive and motor decline, seizures, and pronounced brain atrophy. This fatal pediatric disease is caused by mutations in the CLN2 gene which encodes the lysosomal enzyme tripeptidyl peptidase-1 (TPP1). Utilizing a TPP1-/- Dachshund model of CLN2 disease, studies were conducted to assess the effects of TPP1 enzyme replacement… CONTINUE READING

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