| Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis. | |
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MedLine Citation:
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PMID: 18931000 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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AIMS AND BACKGROUND: Mutations in the TARDBP gene, which encodes the TAR DNA binding protein (TDP-43), have been described in individuals with familial and sporadic amyotrophic lateral sclerosis (ALS). We screened the TARDBP gene in 285 French sporadic ALS patients to assess the frequency of TARDBP mutations in ALS. RESULTS: Six individuals had potentially deleterious mutations of which three were novel including a Y374X truncating mutation and P363A and A382P missense mutations. This suggests that TARDBP mutations may predispose to ALS in approximately 2% of the individuals followed in this study. CONCLUSION: Our findings, combined with those from other collections, brings the total number of mutations in unrelated ALS patients to 17, further suggesting that mutations in the TARDBP gene have an important role in the pathogenesis of ALS. |
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Authors:
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H Daoud; P N Valdmanis; E Kabashi; P Dion; N Dupré; W Camu; V Meininger; G A Rouleau |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2008-10-17 |
Journal Detail:
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Title: Journal of medical genetics Volume: 46 ISSN: 1468-6244 ISO Abbreviation: J. Med. Genet. Publication Date: 2009 Feb |
Date Detail:
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Created Date: 2009-02-02 Completed Date: 2009-03-17 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: England |
Other Details:
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Languages: eng Pagination: 112-4 Citation Subset: IM |
Affiliation:
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Centre of Excellence in Neuromics, CHUM Research Center and the Department of Medicine, University of Montreal, Montreal, Quebec, Canada. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amyotrophic Lateral Sclerosis
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genetics*,
metabolism Base Sequence Cohort Studies DNA Mutational Analysis DNA-Binding Proteins / genetics*, metabolism Female Gene Frequency Humans Male Middle Aged Molecular Sequence Data Mutation* |
| Chemical | |
Reg. No./Substance:
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0/DNA-Binding Proteins; 0/protein TDP-43 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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