公开(公告)号：US09469851B2

公开(公告)日：2016-10-18

申请号：US14234413

申请日：2012-07-24

申请人： Scott Quenton Harper ,  Jian Liu ,  Sara Garwick Coppens ,  Lindsay Wallace

发明人： Scott Quenton Harper ,  Jian Liu ,  Sara Garwick Coppens ,  Lindsay Wallace

IPC分类号： C12N15/86 ,  C12N15/09 ,  C12N15/63 ,  C12N15/11 ,  C12N15/113

CPC分类号： C12N15/86 ,  C12N15/113 ,  C12N2310/11 ,  C12N2310/141 ,  C12N2320/30 ,  C12N2330/51 ,  C12N2750/00032 ,  C12N2750/14132 ,  C12N2750/14143

摘要： The present invention relates to RNA interference-based methods for inhibiting the expression of the DUX4 gene, a double homeobox gene on human chromosome 4q35. Recombinant adeno-associated viruses of the invention deliver DNAs encoding microRNAs that knock down the expression of DUX4. The methods have application in the treatment of muscular dystrophies such as facioscapulohumeral muscular dystrophy.

摘要翻译： 本发明涉及用于抑制DUX4基因（人染色体4q35上的双重同源盒基因）表达的基于RNA干扰的方法。 本发明的重组腺相关病毒提供了编码降低DUX4表达的微小RNA的DNA。 该方法可用于治疗肌营养不良症，例如面皮囊性肌营养不良症。

公开(公告)号：US20140322169A1

公开(公告)日：2014-10-30

申请号：US14234413

申请日：2012-07-24

申请人： Scott Quenton Harper ,  Jian Liu ,  Sara Garwick ,  Lindsay Wallace

发明人： Scott Quenton Harper ,  Jian Liu ,  Sara Garwick ,  Lindsay Wallace

IPC分类号： C12N15/113 ,  C12N15/86

CPC分类号： C12N15/86 ,  C12N15/113 ,  C12N2310/11 ,  C12N2310/141 ,  C12N2320/30 ,  C12N2330/51 ,  C12N2750/00032 ,  C12N2750/14132 ,  C12N2750/14143

摘要： The present invention relates to RNA interference-based methods for inhibiting the expression of the DUX4 gene, a double homeobox gene on human chromosome 4q35. Recombinant adeno-associated viruses of the invention deliver DNAs encoding microRNAs that knock down the expression of DUX4. The methods have application in the treatment of muscular dystrophies such as facioscapulohumeral muscular dystrophy.

摘要翻译： 本发明涉及用于抑制DUX4基因（人染色体4q35上的双重同源盒基因）表达的基于RNA干扰的方法。 本发明的重组腺相关病毒提供了编码降低DUX4表达的微小RNA的DNA。 该方法可用于治疗肌营养不良症，例如面皮囊性肌营养不良症。

公开(公告)号：US09133482B2

公开(公告)日：2015-09-15

申请号：US14058909

申请日：2013-10-21

申请人： Scott Quenton Harper ,  Jian Liu

发明人： Scott Quenton Harper ,  Jian Liu

IPC分类号： C12N7/01 ,  A01N63/00 ,  C12N15/86 ,  C12N15/113 ,  C07K14/47

CPC分类号： C12N15/86 ,  C07K14/4707 ,  C12N15/113 ,  C12N2310/141 ,  C12N2330/51 ,  C12N2750/14143

摘要： The present invention relates to RNA interference-based methods for inhibiting the expression of the myotilin gene. Recombinant adeno-associated viruses of the invention deliver DNAs encoding microRNAs that knock down the expression of myotilin. The methods have application in the treatment of muscular dystrophies such as Limb Girdle Muscular Dystrophy Type 1A.

摘要翻译： 本发明涉及用于抑制肌动蛋白基因表达的基于RNA干扰的方法。 本发明的重组腺相关病毒提供了编码微小RNA的DNA，其敲低了myotilin的表达。 该方法可用于治疗肌营养不良症如1A型肢体肌营养不良症。

公开(公告)号：US20240093191A1

公开(公告)日：2024-03-21

申请号：US18274327

申请日：2022-02-03

申请人： Nizar Saad ,  Scott Quenton Harper

发明人： Nizar Saad ,  Scott Quenton Harper

IPC分类号： C12N15/113 ,  A61K9/00 ,  A61K45/06 ,  A61P21/00 ,  C12N15/86

CPC分类号： C12N15/113 ,  A61K9/0019 ,  A61K45/06 ,  A61P21/00 ,  C12N15/86 ,  C12N2310/141 ,  C12N2750/14143

摘要： Disclosed herein are products, methods, and uses for treating, ameliorating, delaying the progression of, and/or preventing a muscular dystrophy or a cancer including, but not limited to, facioscapulohumeral muscular dystrophy (FSHD) or a cancer associated with DUX4 expression or overexpression. More particularly, disclosed herein are RNA interference-based products, methods, and uses for inhibiting or downregulating the expression of double homeobox 4 (DUX4). Even more particularly, the disclosure provides microRNA (miRNA) for inhibiting or downregulating the expression of DUX4 and methods of using said miRNA to inhibit or downregulate DUX4 expression in cells and/or in cells of a subject having a muscular dystrophy or a cancer including, but not limited to, FSHD or a cancer associated with DUX4 expression or overexpression. Additionally, the disclosure provides an estrogen, synthetic estrogen, progesterone, progestin, melatonin, bleomycin, pyrazinamide, sorafenib, or a derivative thereof, or a combination of any thereof for upregulating expression of microRNA-675, inhibiting DUX4 expression, and for treating, ameliorating, delaying the progression of, and/or preventing a muscular dystrophy or a cancer including, but not limited to, FSHD or a cancer associated with DUX4 expression or overexpression.