Article
Destabilizing protein polymorphisms in the genetic background direct phenotypic expression of mutant SOD1 toxicity.
PLoS genetics - 1 Mar 2009
Gidalevitz Tali, Krupinski Thomas, Garcia Susana, Morimoto Richard I
Abstract excerpt
Genetic background exerts a strong modulatory effect on the toxicity of aggregation-prone proteins in conformational diseases. In addition to influencing the misfolding and aggregation behavior of the mutant proteins, polymorphisms in putative modifier genes may affect the molecular processes leading to the disease phenotype. Mutations in SOD1 in a subset of familial amyotrophic lateral sclerosis (ALS) cases...
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