ALS Compendium

Title: Exome sequencing to identify de novo mutations in sporadic ALS trios

Year Published: 2013

Observation: Identified de novo mutation in CREST that inhibited dendrite outgrowth and decreased complexity of dendritic arbors. Found that CREST and nBAF complex can associate with FUS

Comment: Found that amino acid alterning de novo mutations were enriched in genes encoding chromatin regulators

Citation: Chesi, A., Staahl, B. T., Jovičić, A., Couthouis, J., Fasolino, M., Raphael, A. R., … Gitler, A. D. (2013). Exome sequencing to identify de novo mutations in sporadic ALS trios. Nature Neuroscience, 16, 851–5. doi:10.1038/nn.3412

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