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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 degenerative motor neuron disorder. Ten percent of cases are inherited; most involve unidentified genes. We report here 13 mutations in the fused in sarcoma/translated in liposarcoma (FUS/TLS) gene on chromosome 16 that were specific for familial ALS. The FUS/TLS protein binds to RNA, functions in diverse processes, and is normally located predominantly in the nucleus. In contrast, the mutant forms of FUS/TLS accumulated in the cytoplasm of neurons, a pathology that is similar to that of the gene TAR DNA-binding protein 43 (TDP43), whose mutations also cause ALS. Neuronal cytoplasmic protein aggregation and defective RNA metabolism thus appear to be common pathogenic mechanisms involved in ALS and possibly in other neurodegenerative disorders.
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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:BoscoD ADA,
pubmed-author:BrownR HRHJr,
pubmed-author:CortelliPP,
pubmed-author:DULANTOGUTIERREZEE,
pubmed-author:DavisAA,
pubmed-author:GilchristJJ,
pubmed-author:HainesJ LJL,
pubmed-author:HorvitzH RHR,
pubmed-author:HoslerB ABA,
pubmed-author:KasarskisE JEJ,
pubmed-author:KwiatkowskiT JTJJr,
pubmed-author:LandersJ EJE,
pubmed-author:LeclercA LAL,
pubmed-author:MunsatTT,
pubmed-author:Pericak-VanceM AMA,
pubmed-author:RouleauG AGA,
pubmed-author:RussCC,
pubmed-author:SappP CPC,
pubmed-author:SiddiqueTT,
pubmed-author:TamrazianEE,
pubmed-author:TicozziNN,
pubmed-author:ValdmanisPP,
pubmed-author:VanderburgC RCR,
pubmed-author:YauAA,
pubmed-author:YoshinagaYY,
pubmed-author:de JongP JPJ
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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 |
1205-8
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pubmed:meshHeading |
pubmed-meshheading:19251627-Age of Onset,
pubmed-meshheading:19251627-Amino Acid Substitution,
pubmed-meshheading:19251627-Amyotrophic Lateral Sclerosis,
pubmed-meshheading:19251627-Animals,
pubmed-meshheading:19251627-Brain,
pubmed-meshheading:19251627-Cell Line, Tumor,
pubmed-meshheading:19251627-Cell Nucleus,
pubmed-meshheading:19251627-Chromosomes, Human, Pair 16,
pubmed-meshheading:19251627-Cytoplasm,
pubmed-meshheading:19251627-DNA-Binding Proteins,
pubmed-meshheading:19251627-Exons,
pubmed-meshheading:19251627-Female,
pubmed-meshheading:19251627-Humans,
pubmed-meshheading:19251627-Male,
pubmed-meshheading:19251627-Mice,
pubmed-meshheading:19251627-Motor Neurons,
pubmed-meshheading:19251627-Mutant Proteins,
pubmed-meshheading:19251627-Mutation, Missense,
pubmed-meshheading:19251627-Neurons,
pubmed-meshheading:19251627-RNA,
pubmed-meshheading:19251627-RNA-Binding Protein FUS,
pubmed-meshheading:19251627-Recombinant Fusion Proteins,
pubmed-meshheading:19251627-Sequence Analysis, DNA,
pubmed-meshheading:19251627-Spinal Cord
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pubmed:year |
2009
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pubmed:articleTitle |
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.
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pubmed:affiliation |
Department of Neurology, Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA. tkwiatkowski@partners.org
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pubmed:publicationType |
Journal Article
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