期刊
SCIENCE
卷 323, 期 5918, 页码 1208-1211出版社
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1165942
关键词
-
资金
- American ALS Association
- Lady Edith Wolfson Trust
- Motor Neurone Disease Association UK
- The Wellcome Trust
- European Union [LSHM-CT-2003-503330]
- National Institute for Health Research Biomedical Research Centre for Mental Health
- The South London and Maudsley National Health Service Foundation Trust
- Medical Research Council UK
- King's College Hospital Charity [Jack Cigman]
- The Heaton-Ellis Trust
- The Psychiatry Research Trust of the Institute of Psychiatry
- Australian National Health and Medical Research Council [CDA 511941]
- Motor Neuron Disease Research Institute of Australia [Peter Stearne]
- Medical Research Council [G0900688, MC_G1000733, G0300329, G0501573, G0600676, G0500289B, G0600974, G0500289] Funding Source: researchfish
- MRC [G0300329, G0600974, G0500289, G0501573, MC_G1000733, G0900688, G0600676] Funding Source: UKRI
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据