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    Increasing functional glycosylation of alpha-dystroglycan in the treatment of muscle degeneration
    1.
    发明授权
    Increasing functional glycosylation of alpha-dystroglycan in the treatment of muscle degeneration 有权
    增加α-dystrogly糖蛋白在肌肉退化治疗中的功能糖基化

    公开(公告)号：US08119766B2

    公开(公告)日：2012-02-21

    申请号：US11143885

    申请日：2005-06-02

    申请人： Kevin P. Campbell ,  Rita Barresi

    发明人： Kevin P. Campbell ,  Rita Barresi

    IPC分类号： C07K1/00 ,  C07H21/02 ,  C07H21/04 ,  A61K48/00

    CPC分类号： C12N9/1048 ,  A61K38/1709 ,  A61K48/00 ,  C07K14/4707

    摘要： Disclosed is a method for the prevention and/or treatment of muscle degeneration. In this method, a subject recognized as having muscle degeneration is treated with a composition effective to increase functional glycosylation of α-dystroglycan in an affected tissue in the subject. Functional glycosylation is to be increased to an extent wherein the binding of α-dystroglycan to its ligands in the affected tissue is rescued to levels substantially similar to those in an evenly matched tissue unaffected by degeneration. One effective means for increasing functional glycosylation of α-dystroglycan in a subject includes increasing glycosyltransferase activity, such as LARGE or LARGE2 activity, in the muscle of the subject. Therapeutic glycosylated peptide compositions are also provided.

    摘要翻译： 公开了一种预防和/或治疗肌肉退化的方法。 在该方法中，被认为具有肌肉退化的受试者用有效增加受试者的受影响组织中α-肌浆聚糖功能性糖基化的组合物进行治疗。 功能性糖基化将被增加到其中α-dystroglylyc结合其受影响组织中的其配体的程度被挽救到基本上类似于不受退化影响的均匀匹配组织中的水平。 用于增加受试者中α-谷胱甘肽聚糖功能糖基化的一种有效方法包括在受试者的肌肉中增加糖基转移酶活性，如LARGE或LARGE2活性。 还提供了治疗性糖基化肽组合物。

    Alpha-dystroglycan as a Protein Therapeutic
    2.
    发明申请
    Alpha-dystroglycan as a Protein Therapeutic 审中-公开
    α-dystroglycan作为蛋白质治疗

    公开(公告)号：US20110166081A1

    公开(公告)日：2011-07-07

    申请号：US12836874

    申请日：2010-07-15

    申请人： Kevin P. Campbell ,  Takako Moriguchi

    发明人： Kevin P. Campbell ,  Takako Moriguchi

    IPC分类号： A61K38/17 ,  A61P21/00 ,  C12P21/02

    CPC分类号： A61K38/1703 ,  A61K9/0019 ,  A61K38/14

    摘要： Disclosed is alpha-dystroglycan protein (alpha-DG) in glycosylated and functional form. The disclosed alpha-DG binds to the basal lamina and to the sarcolemma of muscle fibers and may be injected into muscle and incorporated into muscle fibers in order to restore membrane integrity where the muscle fibers comprise a dysfunctional alpha-DG protein. Alpha-DG as disclosed herein may be utilized in pharmaceutical compositions and methods for treating diseases and disorders associated with or characterized by a dysfunctional alpha-DG, such as muscular dystrophy.

    摘要翻译： 公开了糖基化和功能形式的α-谷胱甘肽聚糖蛋白（α-DG）。 所公开的α-DG结合基底层和肌纤维的肌膜，并且可以注射到肌肉中并且并入肌肉纤维中，以便恢复膜完整性，其中肌纤维包含功能障碍的α-DG蛋白。 本文公开的α-DG可用于治疗与功能障碍性α-DG相关或特征在于肌营养不良症的疾病和病症的药物组合物和方法。

    .beta.-sarcoglycan nucleic acid sequence, and nucleic acid probes
    3.
    发明授权
    .beta.-sarcoglycan nucleic acid sequence, and nucleic acid probes 失效
    β-聚糖核酸序列和核酸探针

    公开(公告)号：US5672694A

    公开(公告)日：1997-09-30

    申请号：US547182

    申请日：1995-10-24

    申请人： Kevin P. Campbell ,  Leland Lim ,  Franck Duclos ,  Yoshihide Sunada ,  Jacques S. Beckmann ,  Odile Broux ,  Fernando M. S. Tome ,  Michel Fardeau ,  Charles E. Jackson

    发明人： Kevin P. Campbell ,  Leland Lim ,  Franck Duclos ,  Yoshihide Sunada ,  Jacques S. Beckmann ,  Odile Broux ,  Fernando M. S. Tome ,  Michel Fardeau ,  Charles E. Jackson

    IPC分类号： A61K39/00 ,  C07K14/47 ,  C12Q1/68 ,  C07H19/00 ,  C07H21/02 ,  C07H21/04

    CPC分类号： C07K14/4707 ,  C12Q1/6883 ,  A61K39/00 ,  C12Q2600/156 ,  C12Q2600/172

    摘要： Disclosed herein is a substantially pure nucleic acid sequence encoding a mammalian 43 kDa non-dystrophin component (.beta.-sarcoglycan) of the dystrophin-glycoprotein complex. Also disclosed are immunogenic peptides which, when used to immunize a mammal, stimulate the production of antibodies which bind specifically to the .beta.-sarcoglycan. Mutations in the .beta.-sarcoglycan gene which are 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 .beta.-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43kDa非肌营养不良蛋白成分（β-卡非糖）的基本上纯的核酸序列。 还公开了免疫原性肽，其当用于免疫哺乳动物时，刺激特异性结合β-糖聚糖的抗体的产生。 还公开了与常染色体隐性遗传性肢体肌营养不良症相关的β - 肌凝蛋白基因的突变。 这种突变的鉴定使得能够设计与β-丝裂核糖苷或其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。

    Genes encoding neuronal voltage-gated calcium channel gamma subunits
    4.
    发明授权
    Genes encoding neuronal voltage-gated calcium channel gamma subunits 失效
    编码神经元电压门控钙通道γ亚基的基因

    公开(公告)号：US06365337B1

    公开(公告)日：2002-04-02

    申请号：US09123030

    申请日：1998-07-27

    申请人： Verity A. Letts ,  Wayne N. Frankel ,  Kevin P. Campbell ,  Ricardo Felix ,  Gloria Biddlecome

    发明人： Verity A. Letts ,  Wayne N. Frankel ,  Kevin P. Campbell ,  Ricardo Felix ,  Gloria Biddlecome

    IPC分类号： G01N33567

    CPC分类号： C07K14/705 ,  G01N33/6872

    摘要： Disclosed are mammalian nucleic acid sequences encoding a neuronal-specific subunit of a voltage-gated calcium channel. Specifically disclosed are &ggr;2, &ggr;3 and &ggr;4 subunits. In other aspects, the disclosure relates to expression vectors which encode neuronal-specific subunits, as well as cells containing such vectors. In other aspects, the disclosure relates to antigenic fusion proteins comprising at least a portion of a mammalian neuronal-specific subunit of a voltage-gated calcium channel. Such fusion proteins are useful, for example, in the production of antibodies specifically reactive with the subunits of the invention. The nucleic acid sequences of the invention find application, for example, in screening for compounds which modulate the activity of neuronal voltage-gated calcium channels and also in diagnostic methods for diagnosing the autoimmune disease Lambert-Eaton Syndrome, as well as diagnosing defects in &ggr; subunit genes of a patient with a neuronal disease such as epilepsy. An additional application of the nucleic acid sequences of the invention is in therapeutic methods of treatment for such disorders.

    摘要翻译： 公开了编码电压门控钙通道的神经元特异性亚基的哺乳动物核酸序列。 具体公开的是γ2，γ3和γ4亚基。 在其他方面，本公开涉及编码神经元特异性亚单位的表达载体以及含有该载体的细胞。 在其他方面，本公开涉及包含电压门控钙通道的哺乳动物神经元特异性亚基的至少一部分的抗原性融合蛋白。 这样的融合蛋白质可用于例如在与本发明的亚单位特异性反应的抗体的产生中。 本发明的核酸序列可用于例如筛选调节神经元电压门控钙通道活性的化合物，以及用于诊断自身免疫疾病兰伯特 - 伊顿综合征的诊断方法，以及诊断伽马 患有神经元疾病如癫痫患者的亚基基因。 本发明的核酸序列的另外的应用是治疗这些疾病的治疗方法。

    Methods for detecting primary adhalinopathy
    8.
    发明授权
    Methods for detecting primary adhalinopathy 失效
    检测原发性腺瘤病的方法

    公开(公告)号：US5733732A

    公开(公告)日：1998-03-31

    申请号：US582539

    申请日：1996-01-03

    申请人： Kevin P. Campbell ,  Steven L. Roberds ,  Yoshihide Sunada ,  Federica Piccolo ,  Marc Jeanpierre ,  Jean-Claude Kaplan

    发明人： Kevin P. Campbell ,  Steven L. Roberds ,  Yoshihide Sunada ,  Federica Piccolo ,  Marc Jeanpierre ,  Jean-Claude Kaplan

    IPC分类号： C12Q1/68 ,  C07H19/00 ,  C07H21/02 ,  C07H21/04

    CPC分类号： C12Q1/6883 ,  C12Q2600/156

    摘要： Disclosed herein are compositions and methods for the detection of primary adhalinopathy. More specifically, disclosed herein are nucleic acid probes which hybridize specifically, under stringent hybridization conditions, to a mutant adhalin gene or the complement thereof, but not to the corresponding region of a wild-type adhalin gene. Also disclosed are methods for the detection of a mutation in the human adhalin gene which is responsible for primary adhalinopathy. Such methods include the use of the nucleic acid probes of the invention for detection of the myopathy by hybridization, as well as detection by direct DNA sequencing techniques.

    摘要翻译： 本文公开了用于检测原发性腺瘤病的组合物和方法。 更具体地，本文公开了在严格杂交条件下特异性与突变体阿达肝素基因或其互补序列而不是野生型腺恶素基因的相应区域杂交的核酸探针。 还公开了用于检测负责原代腺病变的人腺酸基因突变的方法。 这些方法包括使用本发明的核酸探针通过杂交检测肌病，以及通过直接DNA测序技术的检测。