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19 条记录 (耗时 0.025 秒)

    Materials and methods for identifying spinal muscular atrophy carriers
    1.
    发明授权
    Materials and methods for identifying spinal muscular atrophy carriers 有权

    公开(公告)号：US09994898B2

    公开(公告)日：2018-06-12

    申请号：US14122871

    申请日：2012-06-07

    申请人： Lisa Edelmann ,  Robert J. Desnick

    发明人： Lisa Edelmann ,  Robert J. Desnick

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q1/6827 ,  C12Q2600/156 ,  C12Q2600/172

    摘要： Materials and methods for identifying carriers of genetic determinants of spinal muscular atrophy are disclosed. In particular, polymorphisms in linkage disequilibrium are associated as markers of spinal muscular atrophy alleles detectable by various techniques, including multiplex ligation-dependent probe analysis, sequence analysis, and RFLP detection. The materials and methods of the disclosure are particularly useful in identifying silent (2+0) carriers of spinal muscular atrophy in which two copies of the SMN1 gene are located on a single human chromosome 5 and no copies of the gene are located on the chromosome 5 homolog.

    Cloning and expression of biologically active human .alpha.-galactosidase A
    4.
    发明授权
    Cloning and expression of biologically active human .alpha.-galactosidase A 失效
    生物活性人α-半乳糖苷酶A的克隆和表达

    公开(公告)号：US5356804A

    公开(公告)日：1994-10-18

    申请号：US602824

    申请日：1990-10-24

    申请人： Robert J. Desnick ,  David F. Bishop ,  Yiannis A. Ioannou

    发明人： Robert J. Desnick ,  David F. Bishop ,  Yiannis A. Ioannou

    IPC分类号： A61K35/18 ,  A61K38/00 ,  C12N9/40 ,  C12N15/56 ,  C12N15/00 ,  C12N5/00 ,  C12N1/20

    CPC分类号： C12N9/2465 ,  A61K35/18 ,  A61K38/00

    摘要： The present invention involves the production of large quantities of human .alpha.-Gal A by cloning and expressing the .alpha.-Gal A coding sequence in eukaryotic host cell expression systems. The eukaryotic expression systems, and in particular the mammalian host cell expression system described herein provide for the appropriate cotranslational and posttranslational modifications required for proper processing, e.g., glycosylation, phosphorylation, etc. and sorting of the expression product so that an glycosylation, phosphorylation, etc. and sorting of the expression product so that an active enzyme is produced. In addition, the expression of fusion proteins which simplify purification is described.Using the methods described herein, the recombinant .alpha.-Gal A is secreted by the engineered host cells so that it is recovered from the culture medium in good yield. The .alpha.-Gal A produced in accordance with the invention may be used in the treatment in Fabry Disease; for the hydrolysis of .alpha.-galactosyl residues in glycoconjugates; and/or for the conversion of the blood group B antigen on erythrocytes to the blood group O antigen.

    摘要翻译： 本发明涉及通过在真核宿主细胞表达系统中克隆并表达α-GalA编码序列来生产大量的人α-Gal。 本文所述的真核表达系统，特别是哺乳动物宿主细胞表达系统提供适当的翻译和翻译后修饰，以进行适当的加工，例如糖基化，磷酸化等，并对表达产物进行分选，使得糖基化，磷酸化， 等等，并对表达产物进行分选以产生活性酶。 此外，描述了简化纯化的融合蛋白的表达。 使用本文所述的方法，重组α-Gal被工程化的宿主细胞分泌，从而以良好的产率从培养基中回收。 根据本发明产生的α-Gal可用于法布里病的治疗; 用于糖缀合物中α-半乳糖苷残基的水解; 和/或用于将红细胞上的血型B抗原转化为血型O抗原。

    Cloning and expression of biologically active .alpha.-N-acetylgalactosaminidase
    7.
    发明授权
    Cloning and expression of biologically active .alpha.-N-acetylgalactosaminidase 失效
    生物活性α-N-乙酰半乳糖胺酶的克隆和表达

    公开(公告)号：US5491075A

    公开(公告)日：1996-02-13

    申请号：US261578

    申请日：1994-06-17

    申请人： Robert J. Desnick ,  David F. Bishop ,  Yiannis A. Ioannou ,  Anne M. Wang

    发明人： Robert J. Desnick ,  David F. Bishop ,  Yiannis A. Ioannou ,  Anne M. Wang

    IPC分类号： A61K38/00 ,  C12N9/24 ,  C12N15/56 ,  C12N15/62 ,  C12N9/40

    CPC分类号： C12Y302/01049 ,  C12N9/2465 ,  A61K38/00

    摘要： The present invention involves the production of human .alpha.-GalNAc by cloning and expressing the .alpha.-GalNAc coding sequence in eukaryotic host cell expressions systems. The eukaryotic expression systems, and in particular the mammalian host cell expression systems described herein provide for the appropriate co-translational and post-translation modifications required or proper processing, e.g., glycosylation, phosphorylation, etc. and sorting of the expression product so that an active enzyme is produced.The .alpha.-GalNAc produced in accordance with the invention may be used in the treatment of Schindler disease or for the hydrolysis of .alpha.-N-acetylgalactosaminyl moieties in various glycoconjugates.

    摘要翻译： 本发明涉及通过在真核宿主细胞表达系统中克隆和表达α-GalNAc编码序列来生产人α-GalNAc。 本文所述的真核表达系统，特别是哺乳动物宿主细胞表达系统提供了所需的适当的协同翻译和翻译后修饰或适当的加工，例如糖基化，磷酸化等，并且对表达产物进行排序，使得 生产活性酶。 根据本发明产生的α-GalNAc可用于治疗辛德勒病或用于各种糖缀合物中α-N-乙酰半乳糖胺基部分的水解。

    Methods for the treatment of bone resorption disorders, including osteoporosis
    8.
    发明授权
    Methods for the treatment of bone resorption disorders, including osteoporosis 失效
    治疗骨吸收障碍的方法，包括骨质疏松症

    公开(公告)号：US5830850A

    公开(公告)日：1998-11-03

    申请号：US704473

    申请日：1996-08-28

    申请人： Bruce D. Gelb ,  Harold Chapman ,  Robert J. Desnick

    发明人： Bruce D. Gelb ,  Harold Chapman ,  Robert J. Desnick

    IPC分类号： A61K45/00 ,  A61K31/00 ,  A61P19/08 ,  A61P19/10 ,  A61P43/00 ,  A61K48/00

    CPC分类号： A61K31/00

    摘要： The present invention relates to methods and compositions for the amelioration of symptoms caused by bone resorption disorders, including but not limited to osteoporosis, arthritides and periodontal disease, and damage caused by macrophage-mediated inflammatory processes. In one embodiment, the methods and compositions of the invention include methods and compositions for the specific inhibition of cathepsin K activity. In an additional embodiment, the methods and compositions of the invention include methods and compositions for the specific inhibition of cathepsin K activity coupled with specific inhibition of at least a second activity involved in the bone resorption and/or macrophage-mediated inflammatory processes. In a particular embodiment, the methods and compositions of the invention include methods and compositions for the specific inhibition of cathepsin K and cathepsin S activity.

    摘要翻译： 本发明涉及用于改善由骨吸收障碍引起的症状的方法和组合物，包括但不限于骨质疏松症，关节炎和牙周病以及由巨噬细胞介导的炎性过程引起的损伤。 在一个实施方案中，本发明的方法和组合物包括用于特异性抑制组织蛋白酶K活性的方法和组合物。 在另外的实施方案中，本发明的方法和组合物包括用于特异性抑制组织蛋白酶K活性的方法和组合物，以及参与骨吸收和/或巨噬细胞介导的炎症过程的至少第二活性的特异性抑制。 在一个具体实施方案中，本发明的方法和组合物包括用于特异性抑制组织蛋白酶K和组织蛋白酶S活性的方法和组合物。

    Cloning and expression of biologically active .alpha.-galactosidase A as a fusion protein
    9.
    发明授权
    Cloning and expression of biologically active .alpha.-galactosidase A as a fusion protein 失效
    生物活性α-半乳糖苷酶A作为融合蛋白的克隆和表达

    公开(公告)号：US5580757A

    公开(公告)日：1996-12-03

    申请号：US261577

    申请日：1994-06-17

    申请人： Robert J. Desnick ,  David F. Bishop ,  Yiannis A. Ioannou

    发明人： Robert J. Desnick ,  David F. Bishop ,  Yiannis A. Ioannou

    IPC分类号： C12N15/09 ,  A61K35/18 ,  A61K38/00 ,  C07K14/31 ,  C12N9/10 ,  C12N9/24 ,  C12N9/40 ,  C12N15/54 ,  C12N15/56 ,  C12R1/91 ,  C12P21/06 ,  C12N15/62

    CPC分类号： C12N9/2465 ,  A61K35/18 ,  C07K14/31 ,  C12N9/1081 ,  C12Y302/01022 ,  C12Y302/01049 ,  A61K38/00 ,  C07K2319/00 ,  C07K2319/61 ,  C07K2319/705

    摘要： The present invention involves the production of large quantities of human .alpha.-Gal A by cloning and expressing the .alpha.-Gal A coding sequence in eukaryotic host cell expression systems. The eukaryotic expression systems, and in particular the mammalian host cell expression system described herein provide for the appropriate cotranslational and posttranslational modifications required for proper processing, e.g., glycosylation, phosphorylation, etc. and sorting of the expression product so that an active enzyme is produced. In addition, the expression of fusion proteins which simplify purification is described.Using the methods described herein, the recombinant .alpha.-Gal A is secreted by the engineered host cells so that it is recovered from the culture medium in good yield. The .alpha.-Gal A produced in accordance with the invention may be used, but is not limited to, in the treatment in Fabry Disease; for the hydrolysis of .alpha.-galactosyl residues in glycoconjugates; and/or for the conversion of the blood group B antigen on erythrocytes to the blood group O antigen.

    摘要翻译： 本发明涉及通过在真核宿主细胞表达系统中克隆并表达α-GalA编码序列来生产大量的人α-Gal。 真核表达系统，特别是本文所述的哺乳动物宿主细胞表达系统提供适当的共转译和翻译后修饰，以进行适当的加工（例如糖基化，磷酸化等）和排序表达产物，从而产生活性酶 。 此外，描述了简化纯化的融合蛋白的表达。 使用本文所述的方法，重组α-Gal被工程化的宿主细胞分泌，从而以良好的产率从培养基中回收。 可以使用根据本发明产生的α-Gal A，但不限于，在法布里病的治疗中; 用于糖缀合物中α-半乳糖苷残基的水解; 和/或用于将红细胞上的血型B抗原转化为血型O抗原。

    Materials and Methods for Identifying Spinal Muscular Atrophy Carriers
    10.
    发明申请
    Materials and Methods for Identifying Spinal Muscular Atrophy Carriers 有权
    识别脊髓肌萎缩载体的材料和方法

    公开(公告)号：US20140199695A1

    公开(公告)日：2014-07-17

    申请号：US14122871

    申请日：2012-06-07

    申请人： Lisa Edelmann ,  Robert J. Desnick

    发明人： Lisa Edelmann ,  Robert J. Desnick

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q1/6827 ,  C12Q2600/156 ,  C12Q2600/172

    摘要： Materials and methods for identifying carriers of genetic determinants of spinal muscular atrophy are disclosed. In particular, polymorphisms in linkage disequilibrium are associated as markers of spinal muscular atrophy alleles detectable by various techniques, including multiplex ligation-dependent probe analysis, sequence analysis, and RFLP detection. The materials and methods of the disclosure are particularly useful in identifying silent (2+0) carriers of spinal muscular atrophy in which two copies of the SMN1 gene are located on a single human chromosome 5 and no copies of the gene are located on the chromosome 5 homolog.

    摘要翻译： 公开了鉴定脊髓性肌萎缩遗传决定因素载体的材料和方法。 特别地，连锁不平衡中的多态性作为通过各种技术可检测的脊髓性肌萎缩等位基因的标记相关联，包括多重连接依赖性探针分析，序列分析和RFLP检测。 本公开的材料和方法特别可用于鉴定脊髓性肌萎缩的沉默（2 + 0）载体，其中SMN1基因的两个拷贝位于单个人染色体5上，并且该基因的拷贝不位于染色体上 5同系物。