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A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery

Figure 6

Gene expression analysis in the affected cerebellum.

(A) The mRNA levels of SEL1L, STON2 and CEP128 in the cerebellar cortex of five affected dogs compared to a control puppy. These three genes had sequence variants that segregated with the ataxia phenotype. (B) Endoplasmic reticulum (ER) stress markers are upregulated in the cerebellar cortex of affected animals. The relative mRNA expression levels are represented as a fold change. Error bars denote the standard error of normalized Ct-values. *p≤0.05 **p≤0.001 ***p≤0.000 (two-tailed t-test p-values).

Figure 6