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DEVELOPMENT OF CELLULAR AND ANIMAL MODELS FOR HUNTINGTONS DISEASE

DEVELOPMENT OF CELLULAR AND ANIMAL MODELS FOR HUNTINGTONS DISEASE
亨廷顿病细胞和动物模型的开发
批准号:
6109006
负责人:
D A TAGLE
金额:
$0.0万
依托单位国家:
美国
项目类别:
财政年份:
--
资助国家:
美国
项目状态:
未结题
起止时间:

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中文摘要
翻译
亨廷顿舞蹈病(HD)是常染色体显性遗传病
英文摘要
Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder with onset generally in midlife. HD is characterized by chorea, dementia, and neuropsychiatric problems. The mutation lies in the expansion of a polymorphic CAG repeat resulting in greater than normal length of polyglutamines in the N-terminal end of the HD gene product (huntingtin) which is of unknown function. The lab has been successful in creating mouse models for HD that recapitulates some features of behavioral abnromalities and neuropathological features inherent in the disease. We are currently taking advantage of these models to elucidate the early events in the disease process, to identify modifying factors in the disease, and to screen for therapeutic compounds.
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会议论文
CLONING AND FUNCTIONAL CHARACTERIZATION OF INHERITED NEURODEGENERATIVE DISORDERS
CHARACTERIZATION OF THE ATAXIA-TELANGIECTASIA GENE PRODUCT
DEVELOPMENT OF CELLULAR AND ANIMAL MODELS FOR HUNTINGTONS DISEASE
CANDIDATE GENE ANALYSIS--INTEGRATIVE EFFORT TO CLONE NIEMANN-PICK TYPE C DISEASE
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