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    • 6. 发明申请
    • COMPOSITIONS AND METHODS FOR DIAGNOSIS OF AUTOPHAGIC VACUOLAR MYOPATHY
    • 用于诊断自体VACUOLAR MYOPATHY的组合物和方法
    • US20090311704A1
    • 2009-12-17
    • US12477555
    • 2009-06-03
    • Berge A. Minassian
    • Berge A. Minassian
    • C12Q1/68C07H21/04C12N5/10
    • C12Q1/6883C12Q2600/156C12Q2600/158
    • Transmembrane V-ATPase proton pump complexes regulate pH of extracellular space or intracellular compartments of cells. V-ATPase complexes are ubiquitous in cells across species. A human orthologue of yeast vma21, LOC203547 (VMA21), is likely involved in the assembly of the V-ATPase. Hypomorphic mutations of VMA21 are identified from XMEA patients. Methods to diagnose and/or distinguish between different forms of vacuolar or vacuolated myopathy in an individual or patient are provided based either on the sequence of the VMA21 gene and/or the level and/or activity of the V-ATPase complex. Compositions of the present invention may comprise DNA, RNA, or protein molecules corresponding to all or a portion of VMA21 and including one or more of the mutations in VMA21 identified. Cultured cells or cell lines having one or more mutations in the VMA21 gene derived from patients having a form of vacuolar or vacuolated myopathy are provided.
    • 跨膜V-ATP酶质子泵复合物调节细胞的胞外空间或细胞内室的pH。 V-ATPase复合物在各种细胞中都是普遍存在的。 酵母vma21的人直向同源物,LOC203547(VMA21)可能参与V-ATP酶的组装。 从XMEA患者中鉴定出VMA21的异型突变。 基于VMA21基因的序列和/或V-ATPase复合物的水平和/或活性来提供诊断和/或区分个体或患者的液泡或空泡状肌病的不同形式的方法。 本发明的组合物可以包含对应于VMA21的全部或部分的DNA,RNA或蛋白质分子,并且包括鉴定的VMA21中的一个或多个突变。 提供了在具有液泡或空泡状肌病形式的患者中衍生的VMA21基因中具有一个或多个突变的培养细胞或细胞系。
    • 8. 发明授权
    • Compositions and methods for diagnosis of autophagic vacuolar myopathy
    • 用于诊断自噬性液泡肌病的组合物和方法
    • US08349557B2
    • 2013-01-08
    • US12477555
    • 2009-06-03
    • Berge A. Minassian
    • Berge A. Minassian
    • C07H21/04C12Q1/68
    • C12Q1/6883C12Q2600/156C12Q2600/158
    • Transmembrane V-ATPase proton pump complexes regulate pH of extracellular space or intracellular compartments of cells. V-ATPase complexes are ubiquitous in cells across species. A human orthologue of yeast vma21, LOC203547 (VMA21), is likely involved in the assembly of the V-ATPase. Hypomorphic mutations of VMA21 are identified from XMEA patients. Methods to diagnose and/or distinguish between different forms of vacuolar or vacuolated myopathy in an individual or patient are provided based either on the sequence of the VMA21 gene and/or the level and/or activity of the V-ATPase complex. Compositions of the present invention may comprise DNA, RNA, or protein molecules corresponding to all or a portion of VMA21 and including one or more of the mutations in VMA21 identified. Cultured cells or cell lines having one or more mutations in the VMA21 gene derived from patients having a form of vacuolar or vacuolated myopathy are provided.
    • 跨膜V-ATP酶质子泵复合物调节细胞的胞外空间或细胞内室的pH。 V-ATPase复合物在各种细胞中都是普遍存在的。 酵母vma21的人直向同源物,LOC203547(VMA21)可能参与V-ATP酶的组装。 从XMEA患者中鉴定出VMA21的异型突变。 基于VMA21基因的序列和/或V-ATPase复合物的水平和/或活性来提供诊断和/或区分个体或患者的液泡或空泡状肌病的不同形式的方法。 本发明的组合物可以包含对应于VMA21的全部或部分的DNA,RNA或蛋白质分子,并且包括鉴定的VMA21中的一个或多个突变。 提供了在具有液泡或空泡状肌病形式的患者中衍生的VMA21基因中具有一个或多个突变的培养细胞或细胞系。