| Trinucleotide repeat disorders. | |
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MedLine Citation:
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PMID: 17417937 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The discovery that expansion of unstable repeats can cause a variety of neurological disorders has changed the landscape of disease-oriented research for several forms of mental retardation, Huntington disease, inherited ataxias, and muscular dystrophy. The dynamic nature of these mutations provided an explanation for the variable phenotype expressivity within a family. Beyond diagnosis and genetic counseling, the benefits from studying these disorders have been noted in both neurobiology and cell biology. Examples include insight about the role of translational control in synaptic plasticity, the role of RNA processing in the integrity of muscle and neuronal function, the importance of Fe-S-containing enzymes for cellular energy, and the dramatic effects of altering protein conformations on neuronal function and survival. It is exciting that within a span of 15 years, pathogenesis studies of this class of disorders are beginning to reveal pathways that are potential therapeutic targets. |
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Authors:
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Harry T Orr; Huda Y Zoghbi |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Annual review of neuroscience Volume: 30 ISSN: 0147-006X ISO Abbreviation: Annu. Rev. Neurosci. Publication Date: 2007 |
Date Detail:
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Created Date: 2007-06-29 Completed Date: 2007-09-21 Revised Date: 2007-12-03 |
Medline Journal Info:
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Nlm Unique ID: 7804039 Medline TA: Annu Rev Neurosci Country: United States |
Other Details:
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Languages: eng Pagination: 575-621 Citation Subset: IM |
Affiliation:
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Institute of Human Genetics, Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota 55455, USA. orrxx002@umn.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Animals Brain / metabolism*, physiopathology Cerebellar Ataxia / genetics, metabolism, physiopathology Fragile X Syndrome / genetics, metabolism, physiopathology Genetic Predisposition to Disease / genetics* Heredodegenerative Disorders, Nervous System / genetics*, metabolism, physiopathology Humans Huntington Disease / genetics, metabolism, physiopathology Mutation / genetics Peptides / genetics, metabolism Trinucleotide Repeat Expansion / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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HD024064/HD/NICHD NIH HHS; NS022920/NS/NINDS NIH HHS; NS0456667/NS/NINDS NIH HHS; NS27699/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Peptides; 26700-71-0/polyglutamine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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