DEVELOPMENT OF CELLULAR AND ANIMAL MODELS FOR HUNTINGTONS DISEASE
DEVELOPMENT OF CELLULAR AND ANIMAL MODELS FOR HUNTINGTONS DISEASE
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:
至
关键词:
Huntington's disease artificial chromosomes disease /disorder model genetically modified animals glutaminase laboratory mouse model design /development molecular cloning molecular pathology nucleic acid repetitive sequence protein glutamine gamma glutamyltransferase protein structure protein structure function transfection
中文摘要
亨廷顿病(HD)是一种常染色体显性遗传病
进行性神经退行性疾病,通常在
中年HD的特征是舞蹈症、痴呆症和
神经精神问题突变在于一个
多态性CAG重复导致大于正常长度的
HD基因产物N-末端的多聚谷氨酰胺
(亨廷顿蛋白),其功能未知。劳顾会
成功地为HD创建了小鼠模型,
行为异常和神经病理学特征
疾病中固有的。我们目前正在利用这些
阐明疾病过程中早期事件的模型,
确定疾病中的修饰因素,并筛选
治疗化合物。
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
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批准号:2345084
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:D A TAGLE
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依托单位:
CHARACTERIZATION OF THE ATAXIA-TELANGIECTASIA GENE PRODUCT
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批准号:6109005
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:D A TAGLE
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依托单位:
DEVELOPMENT OF CELLULAR AND ANIMAL MODELS FOR HUNTINGTONS DISEASE
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批准号:2456803
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:D A TAGLE
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依托单位:
CANDIDATE GENE ANALYSIS--INTEGRATIVE EFFORT TO CLONE NIEMANN-PICK TYPE C DISEASE
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批准号:2456801
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:D A TAGLE
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依托单位:
CANDIDATE GENE ANALYSIS--INTEGRATIVE EFFORT TO CLONE NIEMANN-PICK TYPE C DISEASE
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批准号:6162594
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:D A TAGLE
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依托单位:
CANDIDATE GENE ANALYSIS--INTEGRATIVE EFFORT TO CLONE NIEMANN-PICK TYPE C DISEASE
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批准号:6109004
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:D A TAGLE
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依托单位:
CHARACTERIZATION OF THE ATAXIA-TELANGIECTASIA GENE PRODUCT
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批准号:2456802
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:D A TAGLE
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依托单位:
DEVELOPMENT OF CELLULAR AND ANIMAL MODELS FOR HUNTINGTONS DISEASE
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批准号:6162596
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:D A TAGLE
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依托单位:
CHARACTERIZATION OF THE ATAXIA-TELANGIECTASIA GENE PRODUCT
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批准号:6162595
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:D A TAGLE
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依托单位:
海外基金