| Pathological accumulation of atrophin-1 in dentatorubralpallidoluysian atrophy. | |
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MedLine Citation:
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PMID: 21577324 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Dentatorubral-pallidoluysian atrophy (DRPLA) is caused by the expansion of polyglutamine (polyQ) in atrophin-1 (ATN1), also known as DRPLA protein. ATN1 is ubiquitously expressed in the central nervous system (CNS), although selective regions of CNS are degenerated in DRPLA, and this selective neuronal damage gives rise to the specific clinical features of DRPLA. Accumulation of mutant ATN1 that carries an expanded polyQ tract seems to be the primary cause of DRPLA neurodegeneration, but it is still unclear how the accumulation of ATN1 leads to neu-rodegeneration. Recently, cleaved fragments of ATN1 were shown to accumulate in the disease models and the brain tissues of patients with DRPLA. Furthermore, proteolytic processing of ATN1 may regulate the intracellular localization of ATN1 and its fragments. Therefore, proteolytic processing of ATN1 may provide clues to disease pathogenesis and hopefully aid in the determination of molecular targets for effective therapeutic approaches for DRPLA. |
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Authors:
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Yasuyo Suzuki; Ikuru Yazawa |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2011-04-25 |
Journal Detail:
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Title: International journal of clinical and experimental pathology Volume: 4 ISSN: 1936-2625 ISO Abbreviation: Int J Clin Exp Pathol Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-05-17 Completed Date: 2011-08-16 Revised Date: 2013-05-29 |
Medline Journal Info:
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Nlm Unique ID: 101480565 Medline TA: Int J Clin Exp Pathol Country: United States |
Other Details:
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Languages: eng Pagination: 378-84 Citation Subset: IM |
Affiliation:
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Laboratory of Research Resources, Research Institute for Longevity Sciences, National Center for Geriatrics and Gerontology Aichi, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Central Nervous System / metabolism*, pathology Disease Models, Animal Genetic Predisposition to Disease Humans Mutation Myoclonic Epilepsies, Progressive / genetics, metabolism*, pathology, therapy Nerve Tissue Proteins / genetics, metabolism* Peptides / metabolism Phenotype Protein Processing, Post-Translational Up-Regulation |
| Chemical | |
Reg. No./Substance:
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0/Nerve Tissue Proteins; 0/Peptides; 0/atrophin-1; 26700-71-0/polyglutamine |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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