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    METHODS FOR THE DIAGNOSIS AND THERAPY OF RETINITIS PIGMENTOSA
    4.
    发明申请
    METHODS FOR THE DIAGNOSIS AND THERAPY OF RETINITIS PIGMENTOSA 审中-公开
    重金属毒素的诊断和治疗方法

    公开(公告)号：US20130071373A1

    公开(公告)日：2013-03-21

    申请号：US13576688

    申请日：2011-02-01

    申请人： Christina Zeitz ,  Isabella Audo ,  Jose-Alain Sahel ,  Shomi Bhattac Harya

    发明人： Christina Zeitz ,  Isabella Audo ,  Jose-Alain Sahel ,  Shomi Bhattac Harya

    IPC分类号： A61K38/46 ,  C12Q1/68

    CPC分类号： C12Q1/6869 ,  A61K38/465 ,  C12Q1/6883 ,  C12Q2600/156

    摘要： The present invention relates to a method of identifying a subject having or at risk of having or developing a retinitis pigmentosa, comprising detecting in a sample obtained from said subject, the presence of at least one mutation in the rhodopsin (RHO) gene selected from the group consisting of c.263T>C, c.620T>A and c. 1031A>C wherein the presence of said mutation indicates an increased risk of having or being at risk of having or developing the retinitis pigmentosa.

    摘要翻译： 本发明涉及一种鉴定患有或有风险的患有视网膜色素变性或患有视网膜色素变性的受试者的方法，包括在所述受试者获得的样本中检测到视紫红质（RHO）基因中至少一个突变的存在，所述视紫红质 由c.263T> C组成，c.620T> A组和c组。 其中所述突变的存在表明具有或具有存在或发展为色素性视网膜炎的风险的风险增加。

    Importation of mitochondrial protein by an enhanced allotopic approach
    8.
    发明授权
    Importation of mitochondrial protein by an enhanced allotopic approach 有权
    通过增强的同位素方法进入线粒体蛋白

    公开(公告)号：US09017999B2

    公开(公告)日：2015-04-28

    申请号：US11913618

    申请日：2006-05-03

    申请人： Marisol Corral-Debrinski ,  Jose-Alain Sahel ,  Valerie Kaltimbacher ,  Crystel Bonnet

    发明人： Marisol Corral-Debrinski ,  Jose-Alain Sahel ,  Valerie Kaltimbacher ,  Crystel Bonnet

    IPC分类号： C12N15/63 ,  C07H21/00 ,  C12N5/00 ,  C12N15/85 ,  A61K48/00 ,  C12N9/02

    CPC分类号： C12N15/85 ,  A61K48/005 ,  A61K48/0058 ,  A61K48/0066 ,  C07K14/47 ,  C07K2319/07 ,  C12N9/0053 ,  C12N9/0089 ,  C12N9/1085 ,  C12N15/8509 ,  C12N2800/22 ,  C12N2810/80 ,  C12Y109/03001

    摘要： The inventors demonstrate that mRNA sorting to the mitochondrial surface is an efficient way to proceed to such an allotopic expression, and that this mRNA sorting can be controlled by selecting appropriate mitochondrion-targeting sequence (MTS) and appropriate 3′UTR sequences. The CDS sequence which codes for the protein to be delivered into the mitochondrion is guided by these appropriate MTS and 3′UTR sequences from the nuclear compartment to the mitochondrion-bound polysomes (where the CDS is translated), and aids in an efficient translocation of a mature functional protein into the mitochondria. Appropriate MTS and 3′UTR sequences correspond to those of nuclearly-transcribed mitochondrially-targeted mRNAs. The inventors demonstrate that, to obtain a stable therapeutically-effective importation, both an appropriate MTS and an appropriate 3′UTR should preferably be used.

    摘要翻译： 本发明人证明，对线粒体表面的mRNA分选是进行这种同种异体表达的有效方式，并且可以通过选择适当的线粒体靶向序列（MTS）和合适的3'UTR序列来控制该mRNA分选。 编码要递送到线粒体中的蛋白质的CDS序列由这些适当的MTS和3'UTR序列从核隔室引导到线粒体结合的多核糖体（其中CDS被翻译），并且有助于有效移位 成熟的功能蛋白进入线粒体。 适当的MTS和3'UTR序列对应于核转录的线粒体靶向mRNA的那些。 发明人证明，为了获得稳定的治疗有效的进口，优选使用适当的MTS和适当的3'UTR。