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Article

Profilin 1 associates with stress granules and ALS-linked mutations alter stress granule dynamics.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 11 Jun 2014

Figley Matthew D, Bieri Gregor, Kolaitis Regina-Maria, Taylor J Paul, Gitler Aaron D

Abstract excerpt

Mutations in the PFN1 gene encoding profilin 1 are a rare cause of familial amyotrophic lateral sclerosis (ALS). Profilin 1 is a well studied actin-binding protein but how PFN1 mutations cause ALS is unknown. The budding yeast, Saccharomyces cerevisiae, has one PFN1 ortholog. We expressed the ALS-linked profilin 1 mutant proteins in yeast, demonstrating a loss of protein stability and failure to restore growth to...

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Identifiers

PMID: 24920614
DOI: 10.1523/JNEUROSCI.0543-14.2014
PMCID: PMC4051967

Genes

PFN1
ATXN2

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