Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
The University of Sydney · King's College London · +2 more institutions
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,…
Citation impact
- FWCI
- 120.38
- Percentile
- 100%
- References
- 30
Authors
22- CVCaroline VanceCorresponding
The University of Sydney, King's College London, Concord Repatriation General Hospital, Anzac Research Institute
- BRBoris RogeljCorresponding
The University of Sydney, King's College London, Concord Repatriation General Hospital, Anzac Research Institute
- THTibor HortobágyiCorresponding
The University of Sydney, King's College London, Concord Repatriation General Hospital, Anzac Research Institute
- KJKurt J. De VosCorresponding
The University of Sydney, King's College London, Concord Repatriation General Hospital, Anzac Research Institute
- ALAgnes L. Nishimura
The University of Sydney, King's College London, Concord Repatriation General Hospital, Anzac Research Institute
Topics & keywords
- Amyotrophic lateral sclerosis
- Missense mutation
- TARDBP
- RNA splicing
- Biology
- Genetics
- Gene
- Mutation