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公开(公告)号:US06955896B2
公开(公告)日:2005-10-18
申请号:US10071900
申请日:2002-02-08
IPC分类号: G01N33/50 , G01N33/566 , G01N33/68 , C12P21/06 , G01N33/53
CPC分类号: C07K14/4711 , G01N33/5091 , G01N33/566 , G01N33/6875 , G01N33/6896 , G01N2333/4709 , G01N2500/00 , G01N2800/2821
摘要: Disclosed is a method for identifying substances that alter the interaction of a presenilin protein with a presenilin-binding protein, including contacting at least the interacting domain of a presenilin protein to a presenilin-binding protein in the presence of a test substance, and measuring the interaction of the presenilin protein and the presenilin-binding protein. Also disclosed is method for identifying substances that modulate the nuclear translocation of an armadillo protein, including providing a culture of cells that express the armadillo protein and a mutant presenilin protein, or a functional fragment thereof that binds an armadillo protein; contacting the culture with a test substance; inducing nuclear translocation of the armadillo protein in the cells; and measuring levels of nuclear armadillo protein as compared to a control as an indication of modulatory activity of the test substance. Further disclosed is method for screening individuals for presenilin alleles associated with Alzheimer's Disease or related disorders, including obtaining cells from an individual to be tested for Alzheimer's Disease or a related disorder; inducing nuclear translocation of an armadillo protein in the cells; and measuring levels of the nuclear armadillo protein as compared to a control as an indication of the presence or absence of presenilin alleles associated with Alzheimer's Disease or a related disorder.
摘要翻译: 公开了一种用于鉴定改变早老素蛋白与早老素结合蛋白的相互作用的物质的方法,包括在测试物质存在下将早老素蛋白的至少相互作用结构域与早老素结合蛋白接触,并测量 早老素蛋白与早老素结合蛋白的相互作用。 还公开了用于鉴定调节犰狳蛋白的核易位的物质的方法,包括提供表达犰狳蛋白的细胞培养物和突变型早老蛋白,或其结合犰狳蛋白的功能片段; 使培养物与测试物质接触; 诱导细胞中犰狳蛋白的核移位; 并测量与对照相比较的核犰狳蛋白水平作为测试物质调节活性的指标。 进一步披露的是筛选与阿尔茨海默病或相关病症相关的早老素等位基因的个体的方法,包括从待测试的阿尔茨海默病或相关病症的个体获得细胞; 诱导细胞中犰狳蛋白的核移位; 并且与对照相比,测量核犰狳蛋白的水平,作为与阿尔茨海默病或相关疾病相关的早老素等位基因的存在或不存在的指示。
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公开(公告)号:US06783982B1
公开(公告)日:2004-08-31
申请号:US09501171
申请日:2000-02-09
IPC分类号: C12N508
CPC分类号: C07K14/48
摘要: The invention provides a method for stimulating nerve growth, which also includes nerve regeneration, by contacting nerve cells with human Neural Plakophilin Related Armadillo Protein (hNPRAP). In a specific embodiment, hNPRAP causes the development of numerous long, cellular extensions, which are similar to axonal sprouting observed during neuronal regeneration and synapse formation. The invention further relates to pharmaceutical compositions comprising an hNPRAP, or alternatively a gene therapy vector that expresses an hNPRAP. Also provided are methods for identifying substances that modulate expression of hNPRAP.
摘要翻译: 本发明提供了一种刺激神经生长的方法,其还包括神经再生,通过使神经细胞与人类神经细胞相关犰狳蛋白(hNPRAP)接触。 在一个具体实施方案中,hNPRAP引起许多长的细胞延伸的发展,其类似于在神经元再生和突触形成期间观察到的轴突发芽。 本发明还涉及包含hNPRAP或表达hNPRAP的基因治疗载体的药物组合物。 还提供了用于鉴定调节hNPRAP表达的物质的方法。
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公开(公告)号:US06531586B1
公开(公告)日:2003-03-11
申请号:US08431048
申请日:1995-04-28
IPC分类号: C12N1511
CPC分类号: C12N15/8509 , A01K2217/05 , A01K2217/075 , A01K2227/105 , A01K2267/0312 , A61K38/00 , C07K14/4711
摘要: The present invention relates to the identification, isolation and cloning of a mammalian polynucleotide which encodes a Alzheimer's related membrane protein (ARMP). The invention also contemplates mutant polynucleotides and polynucleotides that encode ARMP homologs. Vectors encoding the protein and host cells transfected with the vector are further contemplated by the present invention.
摘要翻译: 本发明涉及编码阿尔茨海默氏病相关膜蛋白(ARMP)的哺乳动物多核苷酸的鉴定,分离和克隆。 本发明还考虑了编码ARMP同系物的突变体多核苷酸和多核苷酸。 编码用载体转染的蛋白质和宿主细胞的载体进一步由本发明考虑。
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公开(公告)号:US06395960B1
公开(公告)日:2002-05-28
申请号:US09124523
申请日:1998-07-29
IPC分类号: A01K6700
CPC分类号: C12N15/8509 , A01K67/0275 , A01K67/0278 , A01K67/0336 , A01K67/0339 , A01K2207/15 , A01K2217/00 , A01K2217/05 , A01K2217/075 , A01K2227/105 , A01K2227/703 , A01K2267/0312 , A61K38/00 , A61K48/00 , C07K14/4711 , C07K16/28 , C12N2799/021 , G01N33/6896 , G01N2333/4709 , G01N2800/2821 , Y10S530/809
摘要: The present invention describes the identification, isolation and cloning of two human presenilin genes, PS-1 and PS-2, mutations in which lead to Familial Alzheimer's Disease. Also identified are presenilin homologue genes in mice, C. elegans and D. melanogaster. Transcripts and products of these genes are useful in detecting and diagnosing Alzheimer's disease, developing therapeutics for treatment of Alzheimer's disease, as well as the isolation and manufacture of the protein and the constructions of transgenic animals expressing the mutant genes.
摘要翻译: 本发明描述了两种人早衰幼苗基因PS-1和PS-2的识别,分离和克隆,其导致家族性阿尔茨海默氏病。 还鉴定了小鼠,秀丽隐杆线虫和黑腹果蝇中的早老素同源基因。 这些基因的记录和产物可用于检测和诊断阿尔茨海默病,开发用于治疗阿尔茨海默病的治疗剂,以及蛋白质的分离和制备以及表达突变基因的转基因动物的构建。
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公开(公告)号:US07371920B2
公开(公告)日:2008-05-13
申请号:US09884629
申请日:2001-06-19
IPC分类号: A01K67/00 , A01K67/033 , A01K67/027 , C12N15/00
CPC分类号: A01K67/0275 , A01K67/0278 , A01K2207/15 , A01K2217/00 , A01K2217/05 , A01K2227/105 , A01K2267/0312 , A01K2267/0318 , C12N15/8509
摘要: The present invention provides a transgenic animal model of Alzheimer's Disease designated TgCRND8 as well as a method for making such model, which allows for the characterization of the etiology of the disease as well as for provide a system for the development and testing of potential treatments.
摘要翻译: 本发明提供了称为TgCRND8的阿尔茨海默病的转基因动物模型以及制备这种模型的方法,其允许表征疾病的病因以及提供用于开发和测试潜在治疗的系统。
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公开(公告)号:US06929919B2
公开(公告)日:2005-08-16
申请号:US09945258
申请日:2001-08-31
IPC分类号: A61P25/08 , C07K14/705 , G01N33/53 , C07K14/00
CPC分类号: C12Q1/6883 , A01K2217/05 , A61K38/00 , C07K14/705 , C12Q2600/156 , G01N33/6893 , G01N33/6896 , G01N2500/00 , G01N2800/28 , G01N2800/30 , G01N2800/302
摘要: Presenilin Associated Membrane Protein (PAMP), and nucleic acids encoding this protein, are provided. PAMP and PAMP nucleic acids provide diagnostic and therapeutic tools for evaluating and treating or preventing neurodevelopmental and neuropsychiatric disorders. In a specific embodiment, mutations in PAMP are diagnostic for schizophrenia. The invention further relates to screening, particularly using high-throughput screens and transgenic animal models, for compounds that modulate the activity of PAMP and presenilins. Such compounds, or gene therapy with PAMP, can be used in treating neurodevelopmental and neuropsychiatric disorders, particularly schizophrenia. In addition, the invention provides PAMP mutants, nucleic acids encoding for PAMP mutants, and transgenic animals expressing PAMP mutants, which in a preferred aspect result in biochemical, morphological, or neuropsychological changes similar to those associated with schizophrenia.
摘要翻译: 提供了早老素联合膜蛋白(PAMP)和编码该蛋白的核酸。 PAMP和PAMP核酸提供诊断和治疗工具,用于评估和治疗或预防神经发育和神经精神障碍。 在具体实施方案中,PAMP中的突变是精神分裂症的诊断。 本发明进一步涉及对调节PAMP和早老素活性的化合物筛选,特别是使用高通量筛选和转基因动物模型。 这些化合物或用PAMP进行的基因治疗可用于治疗神经发育和神经精神障碍,特别是精神分裂症。 此外,本发明提供PAMP突变体,编码PAMP突变体的核酸和表达PAMP突变体的转基因动物,其在优选的方面导致类似于与精神分裂症相关的生化,形态学或神经心理学变化。
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公开(公告)号:US6117978A
公开(公告)日:2000-09-12
申请号:US124698
申请日:1998-07-29
IPC分类号: A01K67/027 , A01K67/033 , A61K31/70 , A61K38/00 , A61K38/18 , A61K48/00 , A61P25/28 , C07K14/47 , C07K16/44 , C12N5/10 , C12N15/09 , C12N15/12 , C12N15/85 , C12Q1/68 , C07K14/00
CPC分类号: C12N15/8509 , A01K67/0275 , A01K67/0278 , A01K67/0336 , A01K67/0339 , C07K14/4711 , C07K16/28 , G01N33/6896 , A01K2207/15 , A01K2217/00 , A01K2217/05 , A01K2217/075 , A01K2227/105 , A01K2227/703 , A01K2267/0312 , A61K38/00 , A61K48/00 , C12N2799/021 , G01N2333/4709 , G01N2800/2821 , Y10S530/809
摘要: The present invention describes the identification, isolation and cloning of two human presenilin genes, PS-1 and PS-2, mutations in which lead to Familial Alzheimer's Disease. Also identified are presenilin homologue genes in mice, C. elegans and D. melanogaster. Transcripts and products of these genes are useful in detecting and diagnosing Alzheimer's disease, developing therapeutics for treatment of Alzheimer's disease, as well as the isolation and manufacture of the protein and the constructions of transgenic animals expressing the mutant genes.
摘要翻译: 本发明描述了两种人早衰幼苗基因PS-1和PS-2的识别,分离和克隆,其导致家族性阿尔茨海默氏病。 还鉴定了小鼠,秀丽隐杆线虫和黑腹果蝇中的早老素同源基因。 这些基因的记录和产物可用于检测和诊断阿尔茨海默病,开发用于治疗阿尔茨海默病的治疗剂,以及蛋白质的分离和制备以及表达突变基因的转基因动物的构建。
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公开(公告)号:US5840540A
公开(公告)日:1998-11-24
申请号:US967101
申请日:1997-11-10
IPC分类号: A01K67/027 , A01K67/033 , A61K31/70 , A61K38/00 , A61K38/18 , A61K48/00 , A61P25/28 , C07K14/47 , C07K16/44 , C12N5/10 , C12N15/09 , C12N15/12 , C12N15/85 , C12Q1/68 , C12P21/06 , C07H17/00 , C07K14/00
CPC分类号: C12N15/8509 , A01K67/0275 , A01K67/0278 , A01K67/0336 , A01K67/0339 , C07K14/4711 , C07K16/28 , G01N33/6896 , A01K2207/15 , A01K2217/00 , A01K2217/05 , A01K2217/075 , A01K2227/105 , A01K2227/703 , A01K2267/0312 , A61K38/00 , A61K48/00 , C12N2799/021 , G01N2333/4709 , G01N2800/2821 , Y10S530/809
摘要: The present invention describes the identification, isolation and cloning of two human presenilin genes, PS-1 and PS-2, mutations in which lead to Familial Alzheimer's Disease. Also identified are presenilin homologue genes in mice, C. elegans and D. melanogaster. Transcripts and products of these genes are useful in detecting and diagnosing Alzheimer's disease, developing therapeutics for treatment of Alzheimer's disease, as well as the isolation and manufacture of the protein and the constructions of transgenic animals expressing the mutant genes.
摘要翻译: 本发明描述了两种人早衰幼苗基因PS-1和PS-2的识别,分离和克隆,其导致家族性阿尔茨海默氏病。 还鉴定了小鼠,秀丽隐杆线虫和黑腹果蝇中的早老素同源基因。 这些基因的记录和产物可用于检测和诊断阿尔茨海默病,开发用于治疗阿尔茨海默病的治疗剂,以及蛋白质的分离和制备以及表达突变基因的转基因动物的构建。
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9.
公开(公告)号:US20110212459A1
公开(公告)日:2011-09-01
申请号:US12207915
申请日:2008-09-10
IPC分类号: C12Q1/68 , C12Q1/00 , A01K67/027
CPC分类号: C07K14/705 , A01K2217/05
摘要: Presenilin Associated Membrane Protein (PAMP), and nucleic acids encoding this protein, are provided. PAMP and PAMP nucleic acids provide diagnostic and therapeutic tools for evaluating and treating or preventing neurodegenerative diseases. In a specific embodiment, mutations in PAMP are diagnostic for Alzheimer's Disease or spina bifida. The invention further relates to screening, particularly using high-throughput screens and transgenic animal models, for compounds that modulate the activity of PAMP and presenilins. Such compounds, or gene therapy with PAMP, can be used in treating neurodegenerative diseases, particularly Alzheimer's Disease. In addition, the invention provides PAMP mutants, nucleic acids encoding for PAMP mutants, and transgenic animals expressing PAMP mutants, which in a preferred aspect result in biochemical changes similar to those induced by mutations in KNAPP, PS1, or PS2, associated with familial Alzheimer's disease.
摘要翻译: 提供了早老素联合膜蛋白(PAMP)和编码该蛋白的核酸。 PAMP和PAMP核酸提供诊断和治疗工具,用于评估和治疗或预防神经变性疾病。 在具体实施方案中,PAMP中的突变是阿尔茨海默病或脊柱裂的诊断。 本发明进一步涉及对调节PAMP和早老素活性的化合物筛选,特别是使用高通量筛选和转基因动物模型。 这些化合物或用PAMP的基因治疗可用于治疗神经变性疾病,特别是阿尔茨海默病。 此外,本发明提供PAMP突变体,编码PAMP突变体的核酸和表达PAMP突变体的转基因动物,其在优选的方面导致生物化学变化类似于与家族性阿尔茨海默病相关的KNAPP,PS1或PS2中的突变诱导的生物化学变化 疾病。
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10.
公开(公告)号:US07838247B2
公开(公告)日:2010-11-23
申请号:US11894723
申请日:2007-08-20
CPC分类号: C12N15/8509 , A01K67/0275 , A01K67/0278 , A01K67/0336 , A01K67/0339 , A01K2207/15 , A01K2217/00 , A01K2217/05 , A01K2217/075 , A01K2227/105 , A01K2227/703 , A01K2267/0312 , A61K38/00 , A61K48/00 , C07K14/4711 , C07K16/28 , C12N2799/021 , G01N33/6896 , G01N2333/4709 , G01N2800/2821 , Y10S530/809
摘要: The present invention describes the identification, isolation, cloning, and determination of the Alzheimer Related Membrane Protein (ARMP) gene on chromosome 14 and a related gene, E5-1, on chromosome 1. Normal and mutant copies of both genes are presented. Transcripts and products of these genes are useful in detecting and diagnosing Alzheimer's disease, developing therapeutics for treatment of Alzheimer's disease, as well as the isolation and manufacture of the protein and the construction of transgenic animals expressing the mutant genes.
摘要翻译: 本发明描述了染色体14上的阿尔茨海默氏相关膜蛋白(ARMP)基因和染色体1上的相关基因E5-1的鉴定,分离,克隆和测定。两种基因的正常和突变拷贝都呈现。 这些基因的记录和产物可用于检测和诊断阿尔茨海默病,开发用于治疗阿尔茨海默病的治疗剂,以及蛋白质的分离和制备以及表达突变基因的转基因动物的构建。
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