Article
Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24.
PLoS genetics - 1 Feb 2014
Agler Caryline, Nielsen Dahlia M, Urkasemsin Ganokon, Singleton Andrew, Tonomura Noriko, Sigurdsson Snaevar, Tang Ruqi, Linder Keith, Arepalli Sampath, Hernandez Dena, Lindblad-Toh Kerstin, van de Leemput Joyce, Motsinger-Reif Alison, O'Brien Dennis P, Bell Jerold, Harris Tonya, Steinberg Steven, Olby Natasha J
Abstract excerpt
Old English Sheepdogs and Gordon Setters suffer from a juvenile onset, autosomal recessive form of canine hereditary ataxia primarily affecting the Purkinje neuron of the cerebellar cortex. The clinical and histological characteristics are analogous to hereditary ataxias in humans. Linkage and genome-wide association studies on a cohort of related Old English Sheepdogs identified a region on CFA4 strongly...
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