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

journal contribution
posted on 2023-06-08, 13:41 authored by Caroline Vance, Boris Rogelj, Tibor Hortobágyi, Kurt J De Vos, Agnes Lumi Nishimura, Jemeen Sreedharan, Xun Hu, Bradley Smith, Deborah Ruddy, Paul Wright, Jeban Ganesalingam, Kelly L Williams, Vineeta Tripathi, Safa Al-Saraj, Ammar Al-Chalabi, Nigel LeighNigel Leigh, Ian P Blair, Garth Nicholson, Jackie de Belleroche, Jean-Marc Gallo, Christopher C Miller, Christopher E Shaw
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 expression studies revealed aberrant localization of mutant FUS protein. FUS is involved in the regulation of transcription and RNA splicing and transport, and it has functional homology to another ALS gene, TARDBP, which suggests that a common mechanism may underlie motor neuron degeneration

History

Publication status

  • Published

Journal

Science (New York, N.Y.)

ISSN

1095-9203

Publisher

American Association for the Advancement of Science

Issue

5918

Volume

323

Page range

1208-11

Department affiliated with

  • Clinical and Experimental Medicine Publications

Full text available

  • No

Peer reviewed?

  • Yes

Legacy Posted Date

2012-11-15

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