Article
A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery.
PLoS genetics - 1 Jan 2012
Kyöstilä Kaisa, Cizinauskas Sigitas, Seppälä Eija H, Suhonen Esko, Jeserevics Janis, Sukura Antti, Syrjä Pernilla, Lohi Hannes
Abstract excerpt
Inherited ataxias are characterized by degeneration of the cerebellar structures, which results in progressive motor incoordination. Hereditary ataxias occur in many species, including humans and dogs. Several mutations have been found in humans, but the genetic background has remained elusive in dogs. The Finnish Hound suffers from an early-onset progressive cerebellar ataxia. We have performed clinical,...
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