Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.

@article{Vance2009MutationsIF,
  title={Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.},
  author={Caroline Vance and Boris Rogelj and Tibor Hortob{\'a}gyi and Kurt J De Vos and Agnes Lumi Nishimura and Jemeen Sreedharan and Xun Hu and Bradley N Smith and Deborah M. Ruddy and Paul Wright and Jeban Ganesalingam and Kelly L Williams and Vineeta Bhasker Tripathi and Safa Al-Saraj and Ammar Al-Chalabi and Peter Nigel Leigh and Ian P. Blair and Garth A. Nicholson and Jacqueline S de Belleroche and J M Gallo and Christopher J Miller and Christopher E. Shaw},
  journal={Science},
  year={2009},
  volume={323 5918},
  pages={1208-1211}
}
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is familial in 10% of cases. We have identified a missense mutation in the gene encoding fused in sarcoma (FUS) in a British kindred, linked to ALS6. In a survey of 197 familial ALS index cases, we identified two further missense mutations in eight families. Postmortem analysis of three cases with FUS mutations showed FUS-immunoreactive cytoplasmic inclusions and predominantly lower motor neuron degeneration. Cellular… CONTINUE READING
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