Source:http://linkedlifedata.com/resource/pubmed/id/16815860
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rdf:type | |
lifeskim:mentions |
umls-concept:C0011155,
umls-concept:C0025519,
umls-concept:C0026809,
umls-concept:C0027066,
umls-concept:C0162429,
umls-concept:C0599682,
umls-concept:C0669353,
umls-concept:C0849912,
umls-concept:C0871261,
umls-concept:C1513492,
umls-concept:C1515926,
umls-concept:C1704632,
umls-concept:C1705994,
umls-concept:C1706817,
umls-concept:C2911692
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pubmed:issue |
1
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pubmed:dateCreated |
2006-7-31
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pubmed:abstractText |
Mutations of epsilon-sarcoglycan gene (SGCE) have been implicated in myoclonus-dystonia (M-D), a movement disorder. To determine the pathophysiology of M-D, we produced Sgce knockout mice and found that the knockout mice exhibited myoclonus, motor impairments, hyperactivity, anxiety, depression, significantly higher levels of striatal dopamine and its metabolites, and an inverse correlation between the dopamine and serotonin metabolites. The results suggest that the diverse symptoms associated with M-D are indeed resulted from a single SGCE gene mutation that leads to alterations of dopaminergic and serotonergic systems. Therefore, antipsychotic agents and serotonin reuptake inhibitors may offer potential benefits for M-D patients.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0021-924X
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
140
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
141-6
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pubmed:dateRevised |
2007-12-19
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pubmed:meshHeading |
pubmed-meshheading:16815860-Affective Symptoms,
pubmed-meshheading:16815860-Animals,
pubmed-meshheading:16815860-Anxiety,
pubmed-meshheading:16815860-Behavior, Animal,
pubmed-meshheading:16815860-Corpus Striatum,
pubmed-meshheading:16815860-Dopamine,
pubmed-meshheading:16815860-Dystonia,
pubmed-meshheading:16815860-Female,
pubmed-meshheading:16815860-Hyperkinesis,
pubmed-meshheading:16815860-Male,
pubmed-meshheading:16815860-Mice,
pubmed-meshheading:16815860-Mice, Knockout,
pubmed-meshheading:16815860-Motor Activity,
pubmed-meshheading:16815860-Myoclonus,
pubmed-meshheading:16815860-Sarcoglycans,
pubmed-meshheading:16815860-Serotonin
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pubmed:year |
2006
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pubmed:articleTitle |
Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice.
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pubmed:affiliation |
Department of Molecular and Integrative Physiology, Beckman Institute for Advanced Science and Technology, University of Illinois at Urbana-Champaign, 405 N. Mathews Ave., Urbana, Illinois 61801, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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