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    Sarcospan-deficient mouse as a model for clinical disorders associated with sarcospan mutations
    21.
    发明授权
    Sarcospan-deficient mouse as a model for clinical disorders associated with sarcospan mutations 失效
    作为与谷氨酸突变相关的临床疾病的模型的萨哥斯坦缺陷型小鼠

    公开(公告)号：US06207878B1

    公开(公告)日：2001-03-27

    申请号：US09422762

    申请日：1999-10-21

    申请人： Kevin P. Campbell ,  Connie Lebakken ,  Rachelle Crosbie ,  Roger Williamson

    发明人： Kevin P. Campbell ,  Connie Lebakken ,  Rachelle Crosbie ,  Roger Williamson

    IPC分类号： A01K67027

    CPC分类号： C12N15/8509 ,  A01K67/0276 ,  A01K2217/05 ,  A01K2217/075 ,  A01K2227/105 ,  A01K2267/0306 ,  C12N2800/30

    摘要： Disclosed is a transgenic knockout mouse whose genome has a homozygous disruption in its endogenous sarcospan gene, wherein the disruption prevents the synthesis of functional sarcospan in cells of the mouse. The mouse is characterized as exhibiting from 1.4 to 6.8 fold larger epididymal fat pad deposits as compared to the epididymal fat pad deposits of a wild type mouse. Methods for production of the mouse are presented. Also disclosed are cells derived from the transgenic knockout mouse. The mouse can be used in a method for identifying therapeutic agents for the treatment of an individual diagnosed with a metabolic disorder associated with a reduction or loss of expression of wild-type sarcospan. An example of such a disorder is weight gain in the individual associated with a reduction or loss of expression of wild-type sarcospan. These specific methods are also provided.

    摘要翻译： 公开了一种转基因敲除小鼠，其基因组在其内源性脊液螺旋体基因中具有纯合性破坏，其中该破坏阻止了小鼠细胞中功能性谷氨酸的合成。 与野生型小鼠的附睾脂肪垫沉积物相比，小鼠的特征在于表现出1.4至6.8倍的附睾脂肪垫沉积物。 介绍了生产小鼠的方法。 还公开了衍生自转基因敲除小鼠的细胞。 该小鼠可用于鉴定用于治疗被诊断患有与野生型脊索动物的表达减少或丧失相关的代谢紊乱的个体的治疗剂的方法。 这种疾病的一个例子是与野生型脊索动物的表达减少或丧失相关的个体体重增加。 还提供了这些具体方法。

    Pathogenesis of cardiomyopathy
    22.
    发明授权
    Pathogenesis of cardiomyopathy 失效
    心肌病发病机制

    公开(公告)号：US06201168B1

    公开(公告)日：2001-03-13

    申请号：US09378418

    申请日：1999-08-20

    申请人： Kevin P. Campbell ,  Ramon Coral ,  Ronald Cohn ,  Roger Williamson ,  Madeleine Durbeej

    发明人： Kevin P. Campbell ,  Ramon Coral ,  Ronald Cohn ,  Roger Williamson ,  Madeleine Durbeej

    IPC分类号： A01K67027

    CPC分类号： C12N15/8509 ,  A01K67/0276 ,  A01K2217/075 ,  A01K2227/105 ,  A01K2267/03 ,  A01K2267/0375 ,  A61K48/00 ,  C07K14/4707

    摘要： Disclosed is a mouse, cells derived therefrom, and methods for using the mouse, the mouse being homozygous for a disrupted &dgr;-sarcoglycan gene, the disruption in the gene having been introduced into the mouse or an ancestor of the mouse at an embryonic stage. The disruption prevents the synthesis of functional &dgr;-sarcoglycan in cells of the mouse and results in the mouse having a reduced amount of &bgr;- and &egr;-sarcoglycan and sarcospan, and a disruption of the sarcoglycan-sarcospan complex in smooth muscle of the mouse. Also disclosed is a mouse, cells derived therefrom, and methods for using the mouse, the mouse being homozygous for a disrupted &bgr;-sarcoglycan gene, the disruption in the gene having been introduced into the mouse or an ancestor of the mouse at an embryonic stage. The disruption prevents the synthesis of functional &bgr;-sarcoglycan in cells of the mouse and results in the mouse having a reduced amount of &dgr;-and &egr;-sarcoglycan and sarcospan and &agr;-dystroglycan in smooth muscle of the mouse.

    摘要翻译： 公开了一种小鼠，其衍生的细胞，以及使用该小鼠的方法，该小鼠对于破坏的δ-色氨酸聚糖基因是纯合的，该基因在胚胎阶段被导入小鼠或该小鼠祖先的破坏。 这种破坏阻止了小鼠细胞中功能性δ-糖聚糖的合成，并导致小鼠β-谷氨酸和唾液酸和焦糖的量减少，并且导致小鼠平滑肌中的slegoglycan-sarcospan复合物的破坏。 还公开了一种小鼠，由其衍生的细胞，以及使用该小鼠的方法，该小鼠对于破坏的β-唾液酸聚糖基因是纯合的，该基因在胚胎阶段被导入小鼠或小鼠祖先的破坏 。 破坏阻止了小鼠细胞中功能性β-sogoglycan的合成，并导致小鼠的平滑肌中δ-和ε-唾液酸和谷氨酸和α-依托莫多糖的量减少。

    Method for aiding in the diagnosis of in-frame deletion type congenital muscular dystrophy
    23.
    发明授权
    Method for aiding in the diagnosis of in-frame deletion type congenital muscular dystrophy 失效
    帮助诊断框内缺失型先天性肌营养不良症的方法

    公开(公告)号：US6136546A

    公开(公告)日：2000-10-24

    申请号：US57740

    申请日：1998-04-09

    申请人： Kevin P. Campbell ,  Valerie Allamand ,  Yoshihide Sunada ,  Volker Straub ,  Mustafa Salih

    发明人： Kevin P. Campbell ,  Valerie Allamand ,  Yoshihide Sunada ,  Volker Straub ,  Mustafa Salih

    IPC分类号： G01N33/68 ,  G01N33/53 ,  G01N1/30 ,  G01N33/567

    CPC分类号： G01N33/6887 ,  G01N2800/2878

    摘要： Disclosed are compositions and methods for aiding in the diagnosis of congenital muscular dystrophy associated with in-frame deletion in the laminin-2 .alpha.2 polypeptide chain in an individual. In a preferred diagnostic method embodiment, an experimental muscle tissue sample is provided from the individual and treated if necessary to render components available for antibody binding. The components of the sample are then separated on the basis of molecular weight. The separated protein components are then transferred to a solid support while maintaining the relative positions established in separation step. The transferred components are then stained with an affinity reagent which is known to bind to a C-terminal domain of the laminin-2 .alpha.2 polypeptide chain. Individual afflicted with congenital muscular dystrophy associated with in-frame deletion in the laminin-2 .alpha.2 polypeptide chain on the basis of positive staining in combination with reduced molecular weight of the laminin-2 .alpha.2 polypeptide chain relative to the wild-type laminin-2 .alpha.2 polypeptide chain. A preferred composition is a nucleic acid probe for the detection of merosin deletion-type congenital muscular dystrophy. The preferred nucleic acid probe is characterized by the ability to bind specifically to a mutant merosin nucleic acid sequence, the mutant merosin nucleic acid sequence comprising a T to C substitution at position 3973 +2 of the consensus donor splice site of exon 25.

    摘要翻译： 公开了用于帮助诊断个体中层粘连蛋白-2α2多肽链中与框内缺失相关的先天性肌营养不良的组合物和方法。 在优选的诊断方法实施方案中，从个体提供实验肌肉组织样品，并且如果需要进行处理以使组分可用于抗体结合。 然后基于分子量分离样品的组分。 然后将分离的蛋白质组分转移到固体支持物中，同时保持在分离步骤中建立的相对位置。 转移的组分然后用已知结合层粘连蛋白-2α2多肽链的C末端结构域的亲和试剂染色。 基于阳性染色结合层粘连蛋白-2α2多肽链相对于野生型层粘连蛋白的层粘连蛋白-2α2多肽链的分子量降低而与层粘连蛋白-2α2多肽链中的框内缺失相关的先天性肌营养不良患者， 2α2多肽链。 优选的组合物是用于检测梅洛辛缺失型先天性肌营养不良症的核酸探针。 优选的核酸探针的特征在于特异性结合突变型子糖蛋白核酸序列的能力，所述突变蛋清核酸序列包含外显子25的共有供体剪接位点的第3973±2位的T至C取代。

    Arenavirus receptor and methods of use
    24.
    发明授权
    Arenavirus receptor and methods of use 失效

    公开(公告)号：US6083911A

    公开(公告)日：2000-07-04

    申请号：US208707

    申请日：1998-12-10

    申请人： Kevin P. Campbell ,  Michael Henry ,  Hiroki Yamada ,  Roger Williamson ,  Wei Cao ,  Michael Oldstone

    发明人： Kevin P. Campbell ,  Michael Henry ,  Hiroki Yamada ,  Roger Williamson ,  Wei Cao ,  Michael Oldstone

    IPC分类号： A61K38/17 ,  A61K35/34 ,  A61K38/16

    CPC分类号： A61K38/177

    摘要： Disclosed is a method for inhibiting the binding of an arenavirus to a cellular receptor. The method involves providing, in soluble form, a reagent comprising .alpha.-dystroglycan or a portion thereof, the reagent being characterized by the ability to bind to the arenavirus thereby inhibiting the binding of the arenavirus to the cellular receptor. The reagent is contacted with an arenavirus particle prior to infection of a cell by the arenavirus particle. Also disclosed are methods for treating an arenavirus infection in a patient and preventing an arenavirus infection in an individual at risk. These methods involve providing a therapeutic composition comprising .alpha.-dystroglycan or a portion thereof which is characterized by the ability to bind to arenaviruses, thereby inhibiting the binding of arenaviruses to a cellular receptor; and administering the composition to the patient or individual at risk. Arenaviruses to which the methods of the present invention apply include, without limitation, Lymphocyte Choriomeningitis Virus, Lassa fever virus, Mobala, and Oliveros. In another aspect, the disclosure relates to an embryonic stem cell line, and cells derived therefrom, which is homozygous for a disrupted dystroglycan gene, wherein the disruption prevents the synthesis of functional dystroglycan in the cells. Applications of the dystroglycan null embryonic stem cells include producing dystroglycan or a portion thereof in the cells and also for identifying portions of dystroglycan necessary for arenavirus infection. Also disclosed is a method for identifying antiviral compounds which interfere specifically with the binding of arenavirus and .alpha.-dystroglycan, comprising providing a binding assay system for the determination of binding of arenavirus and .alpha.-dystroglycan. The candidate antiviral compounds are introduced into the binding assay system and antiviral compounds which substantially inhibit binding of arenavirus to .alpha.-dystroglycan are identified.

    .delta.-sarcoglycan nucleic acid sequences
    25.
    发明授权
    .delta.-sarcoglycan nucleic acid sequences 失效
    δ-聚糖核酸序列

    公开(公告)号：US5837537A

    公开(公告)日：1998-11-17

    申请号：US719758

    申请日：1996-09-25

    申请人： Kevin P. Campbell ,  Daniel Jung ,  Franck Duclos ,  Volker Straub ,  John McPherson

    发明人： Kevin P. Campbell ,  Daniel Jung ,  Franck Duclos ,  Volker Straub ,  John McPherson

    IPC分类号： C07K14/47 ,  C12N15/12 ,  C12N15/63 ,  C12N15/85

    CPC分类号： C07K14/4707

    摘要： Disclosed herein is a substantially pure nucleic acid sequence encoding a mammalian 35 kDa non-dystrophin component (.delta.-sarcoglycan) of the dystrophin-glycoprotein complex. Also disclosed are the amino acid sequence and an immunogenic peptide of .delta.-sarcoglycan. The peptide when used to immunize a mammal, stimulates the production of antibodies which bind specifically to the .delta.-sarcoglycan. Methods to identify mutations in the .delta.-sarcoglycan gene associated with autosomal recessive limb-girdle muscular dystrophy are also disclosed. The identification of such mutations enables the design of nucleic acid probes which hybridize specifically to a mutant form of .delta.-sarcoglycan, or the complement thereof, but not to the DNA of the wild-type form of the gene (or the complement thereof), under stringent hybridization conditions. Such probes are useful, for example, in connection with the diagnosis of autosomal recessive limb-girdle muscular dystrophy. In addition, the identification of such mutations enables the diagnosis of autosomal recessive limb-girdle muscular dystrophy through the use of direct DNA sequencing techniques.

    摘要翻译： 本文公开了编码肌营养不良蛋白 - 糖蛋白复合物的哺乳动物35kDa非肌营养不良蛋白成分（δ-聚糖）的基本上纯的核酸序列。 还公开了δ-聚糖的氨基酸序列和免疫原性肽。 当肽用于免疫哺乳动物时，刺激产生与δ-聚糖结合特异性的抗体。 还公开了鉴定与常染色体隐性遗传性肢体肌营养不良症相关的δ-聚糖基因突变的方法。 这种突变的鉴定使得能够设计与δ-聚糖或其互补体的突变形式特异性杂交的核酸探针，而不与野生型形式的基因（或其补体）的DNA杂交， 在严格的杂交条件下。 这样的探针可用于例如与常染色体隐性性腰带肌营养不良症的诊断有关。 此外，通过使用直接DNA测序技术，鉴定这种突变能够诊断常染色体隐性的腰带肌营养不良症。