| The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. | |
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MedLine Citation:
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PMID: 9288096 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. This study identifies the DYT1 gene on human chromosome 9q34 as being responsible for this dominant disease. Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen idependently in different ethnic populations. This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA. This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases. |
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Authors:
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L J Ozelius; J W Hewett; C E Page; S B Bressman; P L Kramer; C Shalish; D de Leon; M F Brin; D Raymond; D P Corey; S Fahn; N J Risch; A J Buckler; J F Gusella; X O Breakefield |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Nature genetics Volume: 17 ISSN: 1061-4036 ISO Abbreviation: Nat. Genet. Publication Date: 1997 Sep |
Date Detail:
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Created Date: 1997-10-02 Completed Date: 1997-10-02 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 9216904 Medline TA: Nat Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 40-8 Citation Subset: IM |
Affiliation:
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Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston, USA. ozelius@helix.mgh.harvard.edu |
| Data Bank Information | |
Bank Name/Acc. No.:
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GENBANK/AF007871; AF007872 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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ATP-Binding Cassette Transporters
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genetics Age of Onset Amino Acid Sequence Animals Base Sequence Carrier Proteins / chemistry Chromosome Mapping Chromosomes, Human, Pair 9* DNA Mutational Analysis Dystonia Musculorum Deformans / genetics* Genetic Markers Heterozygote Detection Humans Jews / genetics Linkage (Genetics) Lymphocytes Mice Molecular Chaperones* Molecular Sequence Data Point Mutation Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Rats Recombinant Proteins / biosynthesis Sequence Alignment Sequence Deletion Sequence Homology, Amino Acid Transcription, Genetic |
| Grant Support | |
ID/Acronym/Agency:
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NS24279/NS/NINDS NIH HHS; NS26656/NS/NINDS NIH HHS; NS28384/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/ATP-Binding Cassette Transporters; 0/Carrier Proteins; 0/Dyt1 protein, mouse; 0/Dyt1 protein, rat; 0/Genetic Markers; 0/Molecular Chaperones; 0/Recombinant Proteins; 0/TOR1A protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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