Article
Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosis.
Human molecular genetics - 1 Nov 2016
Ohta Yasuyuki, Soucy Genevieve, Phaneuf Daniel, Audet Jean-Nicolas, Gros-Louis François, Rouleau Guy A, Blasco Hélène, Corcia Philippe, Andersen Peter M, Nordin Frida, Yamashita Toru, Abe Koji, Julien Jean-Pierre
Abstract excerpt
Recent genetic studies yielded conflicting results regarding a role for the variant chromogranin B (CHGB)P413L allele as a disease modifier in ALS. Moreover, potential deleterious effects of the CHGBP413L variant in ALS pathology have not been investigated. Here we report that in transfected cultured cells, the variant CHGBL413 protein exhibited aberrant properties including mislocalization, failure to interact...
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