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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 ShawAmyotrophic 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
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Publication status
- Published
Journal
Science (New York, N.Y.)ISSN
1095-9203Publisher
American Association for the Advancement of ScienceExternal DOI
Issue
5918Volume
323Page range
1208-11Department affiliated with
- Clinical and Experimental Medicine Publications
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- No
Peer reviewed?
- Yes
Legacy Posted Date
2012-11-15Usage metrics
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