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公开(公告)号：US20110229439A1
公开(公告)日：2011-09-22
申请号：US13063604
申请日：2009-09-11
申请人： Peter Humphries , Marian Humphries , Matthew Campbell , Paul Kenna , Lawrence Chi Shing Tam , Gwenyth Jane Farrar , Anna-Sophia Kiang
发明人： Peter Humphries , Marian Humphries , Matthew Campbell , Paul Kenna , Lawrence Chi Shing Tam , Gwenyth Jane Farrar , Anna-Sophia Kiang
IPC分类号： A61K35/76 , C07K14/435 , A61K38/16 , G01N33/53 , A61P27/02
CPC分类号： A61K38/1725
摘要： The present invention relates to classical pathway complement proteins and their use in the prognosis and prevention of diseases involving cone photoreceptor degeneration. Specifically, the present invention is directed to the use of one or more classical pathway complement proteins, preferably involved in the recognition phase, in the maintenance of cone photoreceptor cell viability in a degenerating retina. The invention is also directed to a method for determining the susceptibility, risk of development and/or progression of diseases involving cone photoreceptor degeneration in a subject.
摘要翻译： 本发明涉及经典途径补体蛋白及其在预后和预防涉及锥体感光器变性的疾病中的应用。 具体而言，本发明涉及一种或多种经典途径补体蛋白（优选参与识别阶段）在维持视网膜退行性视网膜中的锥体感光细胞活力的用途。 本发明还涉及用于确定受试者中涉及锥体感光器变性的疾病的易感性，发展风险和/或进展的方法。
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公开(公告)号：US07138378B1
公开(公告)日：2006-11-21
申请号：US09155708
申请日：1997-04-02
CPC分类号： C12N15/113 , A61K38/00 , A61K48/00 , A61K48/005 , C12N2310/111 , C12N2310/121 , C12N2310/15 , C12N2310/3181
摘要： A strategy for suppressing specifically or partially specifically an endogenous gene and introducing a replacement gene, said strategy comprising the steps of: 1. providing suppressing nucleic acids or other suppression effectors able to bind to an endogenous gene, gene transcript or gene product to be suppressed and 2. providing genomic DNA or cDNA (complete or partial) encoding a replacement gene wherein the suppressing nucleic acids are unable to bind to equivalent regions in the genomic DNA or cDNA to prevent expression of the replacement gene. The replacement nucleic acids have modifications in one or more third base (wobble) positions such that replacement nucleic acids still code for the wild type or equivalent amino acids.
摘要翻译： 一种具体或部分特异性抑制内源基因并引入置换基因的策略，所述策略包括以下步骤：1.提供能够结合待抑制的内源基因，基因转录物或基因产物的抑制性核酸或其他抑制效应子 和2.提供编码替代基因的基因组DNA或cDNA（完全或部分），其中所述抑制性核酸不能结合基因组DNA或cDNA中的等同区域以阻止替代基因的表达。 替代的核酸在一个或多个第三碱基（摆动）位置上具有修饰，使得替代的核酸仍然编码野生型或等同的氨基酸。
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公开(公告)号：US08551970B2
公开(公告)日：2013-10-08
申请号：US12710343
申请日：2010-02-22
摘要： Methods and agents for suppressing expression of a mutant allele of a gene and providing a replacement nucleic acid are provided. The methods of the invention provide suppression effectors such as, for example, antisense nucleic acids, ribozymes, or RNAi, that bind to the gene or its RNA. The invention further provides for the introduction of a replacement nucleic acid with modified sequences such that the replacement nucleic acid is protected from suppression by the suppression effector. The replacement nucleic acid is modified at degenerate wobble positions in the target region of the suppression effector and thereby is not suppressed by the suppression effector. In addition, by altering wobble positions, the replacement nucleic acid can still encode a wild type gene product. The invention has the advantage that the same suppression strategy could be used to suppress, in principle, many mutations in a gene. Also disclosed is a transgenic mouse that expresses human rhodopsin (modified replacement gene) and a transgenic mouse that expresses a suppression effector targeting rhodopsin. Also disclosed in intraocular administration of siRNA.
摘要翻译： 提供了用于抑制基因突变等位基因表达并提供置换核酸的方法和试剂。 本发明的方法提供了结合该基因或其RNA的抑制效应物，例如反义核酸，核酶或RNAi。 本发明进一步提供了具有修饰序列的替代核酸的引入，使得替代核酸被抑制抑制效应物抑制。 替代核酸在抑制效应物的目标区域中的简并摆动位置被修饰，从而不被抑制效应物抑制。 此外，通过改变摆动位置，替代核酸仍然可以编码野生型基因产物。 本发明的优点在于，相同的抑制策略原则上可用于抑制基因中的许多突变。 还公开了表达人类视紫质（修饰的替代基因）的转基因小鼠和表达抑制效应物靶向视紫红质的转基因小鼠。 还在siRNA的眼内给药中也公开。
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4.发明授权Strategy for suppressing the expression of an endogeneous gene by using compounds that are able to bind to the non-coding regions of the gene to be suppressed 失效通过使用能够结合待抑制的基因的非编码区的化合物来抑制内源基因的表达的策略公开(公告)号：US06713457B2
公开(公告)日：2004-03-30
申请号：US09043506
申请日：1998-09-21
IPC分类号： A01N4304
CPC分类号： C12N15/113 , A61K38/00 , A61K48/00 , C07K14/47 , C07K14/78 , C12N2310/121 , C12N2310/15 , C12N2310/3181
摘要： The invention provides strategy for suppressing expression of an endogenous gene, wherein said strategy comprises providing suppression effectors able to bind to the non-coding regions of a gene to be suppressed, to prevent the functional expression thereof. The suppression effectors may be antisense nucleic acids, and the non-coding regions can include the transcribed but non-translated regions of a gene. The strategy can also introduce a replacement gene.
摘要翻译： 本发明提供抑制内源基因表达的策略，其中所述策略包括提供能够结合待抑制基因的非编码区的抑制效应物，以防止其功能性表达。 抑制效应物可以是反义核酸，非编码区可以包括基因的转录但非翻译区。 该策略还可以引入替代基因。
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公开(公告)号：US20090197336A1
公开(公告)日：2009-08-06
申请号：US12188405
申请日：2008-08-08
CPC分类号： C12N15/113 , A61K38/00 , A61K48/00 , A61K48/005 , C12N2310/111 , C12N2310/121 , C12N2310/15 , C12N2310/3181
摘要： Methods and agents for suppressing expression of a mutant allele of a gene having a polymorphism are provided. The methods of the invention provide suppression effectors such as antisense nucleic acids or ribozymes, that bind to nucleic acid regions having a polymorphism within a gene such that one allele of a gene is exclusively or preferentially suppressed. The method also provides the administration of a replacement nucleic acid, if required. The invention has the advantage that the same suppression strategy, when directed to polymorphisms, could be used to suppress, in principle, many mutations in a polymorphic gene. This is particularly relevant when large numbers of mutations within a single gene cause disease pathology.
摘要翻译： 提供了用于抑制具有多态性的基因的突变等位基因表达的方法和试剂。 本发明的方法提供诸如反义核酸或核酶之类的抑制效应物，其与基因内具有多态性的核酸区域结合，使得基因的一个等位基因被专门或优先地抑制。 如果需要，该方法还提供了置换核酸的施用。 本发明的优点在于，当针对多态性时，相同的抑制策略原则上可用于抑制多态性基因中的许多突变。 当单个基因内的大量突变导致疾病病理学时，这尤其重要。
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