Title: Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
Year Published: 2009
Observation: Identified bp change in exon 15 of FUS. The frequency of FUS mutations in British and Australian SOD1 negative cases is ~4%. Mutation causes subcellular mislocalization
Comment: Identified FUS mutation as cause of ALS type 6
Citation: Nishimura, A. L., Sreedharan, J., Hu, X., Smith, B., Al-saraj, S., Al-chalabi, A., … Nicholson, G. (2009). Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6, 323(February), 1208–1211.
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