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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5918
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pubmed:dateCreated |
2009-3-2
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pubmed:abstractText |
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.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1095-9203
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pubmed:author |
pubmed-author:Al-ChalabiAmmarA,
pubmed-author:Al-SarajSafaS,
pubmed-author:BlairIan PIP,
pubmed-author:De VosKurt JKJ,
pubmed-author:GalloJean-MarcJM,
pubmed-author:GanesalingamJebanJ,
pubmed-author:HortobágyiTiborT,
pubmed-author:HuXunX,
pubmed-author:LeighP NigelPN,
pubmed-author:MillerChristopher CCC,
pubmed-author:NicholsonGarthG,
pubmed-author:NishimuraAgnes LumiAL,
pubmed-author:RogeljBorisB,
pubmed-author:RuddyDeborahD,
pubmed-author:ShawChristopher ECE,
pubmed-author:SmithBradleyB,
pubmed-author:SreedharanJemeenJ,
pubmed-author:TripathiVineetaV,
pubmed-author:VanceCarolineC,
pubmed-author:WilliamsKelly LKL,
pubmed-author:WrightPaulP,
pubmed-author:de BellerocheJackieJ
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pubmed:issnType |
Electronic
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pubmed:day |
27
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pubmed:volume |
323
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1208-11
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pubmed:meshHeading |
pubmed-meshheading:19251628-Age of Onset,
pubmed-meshheading:19251628-Amino Acid Sequence,
pubmed-meshheading:19251628-Amyotrophic Lateral Sclerosis,
pubmed-meshheading:19251628-Animals,
pubmed-meshheading:19251628-Brain,
pubmed-meshheading:19251628-Cell Line,
pubmed-meshheading:19251628-Cell Nucleus,
pubmed-meshheading:19251628-Cytoplasm,
pubmed-meshheading:19251628-DNA-Binding Proteins,
pubmed-meshheading:19251628-Female,
pubmed-meshheading:19251628-Humans,
pubmed-meshheading:19251628-Inclusion Bodies,
pubmed-meshheading:19251628-Male,
pubmed-meshheading:19251628-Molecular Sequence Data,
pubmed-meshheading:19251628-Motor Neurons,
pubmed-meshheading:19251628-Mutation, Missense,
pubmed-meshheading:19251628-Pedigree,
pubmed-meshheading:19251628-RNA-Binding Protein FUS,
pubmed-meshheading:19251628-Rats,
pubmed-meshheading:19251628-Spinal Cord,
pubmed-meshheading:19251628-Transfection
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pubmed:year |
2009
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pubmed:articleTitle |
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.
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pubmed:affiliation |
Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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