| 发明名称 | Exon skipping therapy for dystrophic epidermolysis bullosa | ||
| 摘要 | The present invention also relates to an antisense oligonucleotide complementary to a nucleic acid sequence of COL7A1 gene that is necessary for correct splicing of one or more exons which encode amino acid sequence of type VII collagen implicated in dysfunction of a mutated type VII collagen wherein said exons are selected from the group consisting of exon 73, 74 or 80 of the COL7A1 gene. The present invention also relates to a method for the treatment of a patient suffering from Dystrophic Epidermolysis Bullosa caused by a dysfunction of a mutated type VII collagen, comprising the step of administering to said patient a least one antisense oligonucleotide according to the invention. | ||
| 申请公布号 | US9340783(B2) | 申请公布日期 | 2016.05.17 |
| 申请号 | US201214350921 | 申请日期 | 2012.10.11 |
| 申请人 | INSERM (INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE;UNIVERSITE PARIS DESCARTES | 发明人 | Hovnanian Alain;Titeux Matthias;Turczynski Sandrina |
| 分类号 | C07H21/02;C07H21/04;A61K31/70;C12N15/113;C12Q1/68;A61K31/711 | 主分类号 | C07H21/02 |
| 代理机构 | Whitham, Curtis, Christofferson & Cook, P.C. | 代理人 | Whitham, Curtis, Christofferson & Cook, P.C. |
| 主权项 | 1. A method for restoring the function of a mutated type VII collagen comprising the step of preventing splicing of one or more exons which encode amino acid sequence of type VII collagen implicated in dysfunction of a mutated type VII collagen wherein said exons are selected from the group consisting of exon 73, 74 or 80 of the COL7A1 gene. | ||
| 地址 | Paris FR | ||