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

Vance, Caroline, Rogelj, Boris, Hortobágyi, Tibor, De Vos, Kurt J, Nishimura, Agnes Lumi, Sreedharan, Jemeen, Hu, Xun, Smith, Bradley, Ruddy, Deborah, Wright, Paul, Ganesalingam, Jeban, Williams, Kelly L, Tripathi, Vineeta, Al-Saraj, Safa, Al-Chalabi, Ammar, Leigh, Nigel, Blair, Ian P, Nicholson, Garth, de Belleroche, Jackie, Gallo, Jean-Marc, Miller, Christopher C and Shaw, Christopher E (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science (New York, N.Y.), 323 (5918). pp. 1208-11. ISSN 1095-9203

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Abstract

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

Item Type: Article
Schools and Departments: Brighton and Sussex Medical School > Clinical and Experimental Medicine
Brighton and Sussex Medical School > Neuroscience
Subjects: R Medicine > RC Internal medicine > RC0321 Neurosciences. Biological psychiatry. Neuropsychiatry > RC0346 Neurology. Diseases of the nervous system Including speech disorders
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Depositing User: Patricia Butler
Date Deposited: 15 Nov 2012 12:43
Last Modified: 25 Sep 2017 13:52
URI: http://sro.sussex.ac.uk/id/eprint/42510
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