公开(公告)号：US20240301427A1

公开(公告)日：2024-09-12

申请号：US18670885

申请日：2024-05-22

申请人： Oklahoma Medical Research Foundation ,  The Board of Regents of Universtity of Oklahoma

发明人： Yuji Kondo ,  Jianxin Fu ,  Hua Wang ,  Klaas Wierenga ,  Patrick M. Gaffney ,  Lijun Xia

IPC分类号： C12N15/113 ,  A61K31/155 ,  A61K31/18 ,  A61K31/192 ,  A61K31/26 ,  A61K31/4045 ,  A61K31/436 ,  A61K31/575 ,  A61K38/05 ,  A61K38/07 ,  A61K38/08 ,  A61K45/06 ,  A61P19/08 ,  C12N15/64

CPC分类号： C12N15/1137 ,  A61K31/155 ,  A61K31/18 ,  A61K31/192 ,  A61K31/26 ,  A61K31/4045 ,  A61K31/436 ,  A61K31/575 ,  A61K38/05 ,  A61K38/07 ,  A61K38/08 ,  A61P19/08 ,  C12N15/64 ,  A61K45/06

摘要： The present invention includes a method of treating a bone disease caused by a intracellular protein trafficking defect comprising: identifying a subject having the bone disease caused by the intracellular protein trafficking defect in a membrane bound transcription factor peptidase, site 1 (MBTPS1) gene; and providing the subject with an effective amount of a composition that bypasses or corrects a defect in MBTPS1 gene expression, gene splicing, or corrects protein trafficking defects in the endoplasmic reticulum and to the lysosome.

公开(公告)号：US20200339997A1

公开(公告)日：2020-10-29

申请号：US16758339

申请日：2018-10-23

申请人： Oklahoma Medical Research Foundation ,  The Board of Regents of the University of Oklahoma

发明人： Yuji Kondo ,  Jianxin Fu ,  Hua Wang ,  Klaas Wierenga ,  Patrick M. Gaffney ,  Lijun Xia

IPC分类号： C12N15/113 ,  C12N15/64 ,  A61K31/26 ,  A61K31/192 ,  A61K31/575 ,  A61K31/18 ,  A61K31/4045 ,  A61K31/155 ,  A61K31/436 ,  A61K38/08 ,  A61K38/05 ,  A61K38/07 ,  A61P19/08

摘要： The present invention includes a method of treating a bone disease caused by a intracellular protein trafficking defect comprising: identifying a subject having the bone disease caused by the intracellular protein trafficking defect in a membrane bound transcription factor peptidase, site 1 (MBTPS1) gene; and providing the subject with an effective amount of a composition that bypasses or corrects a defect in MBTPS1 gene expression, gene splicing, or corrects protein trafficking defects in the endoplasmic reticulum and to the lysosome.

公开(公告)号：US12031136B2

公开(公告)日：2024-07-09

申请号：US16758339

申请日：2018-10-23

申请人： Oklahoma Medical Research Foundation ,  The Board of Regents of the University of Oklahoma

发明人： Yuji Kondo ,  Jianxin Fu ,  Hua Wang ,  Klaas Wierenga ,  Patrick M. Gaffney ,  Lijun Xia

IPC分类号： A61K31/192 ,  A61K31/155 ,  A61K31/18 ,  A61K31/26 ,  A61K31/4045 ,  A61K31/436 ,  A61K31/575 ,  A61K38/05 ,  A61K38/07 ,  A61K38/08 ,  A61P19/08 ,  C12N15/113 ,  C12N15/64 ,  A61K45/06

CPC分类号： C12N15/1137 ,  A61K31/155 ,  A61K31/18 ,  A61K31/192 ,  A61K31/26 ,  A61K31/4045 ,  A61K31/436 ,  A61K31/575 ,  A61K38/05 ,  A61K38/07 ,  A61K38/08 ,  A61P19/08 ,  C12N15/64 ,  A61K45/06

摘要： The present invention includes a method of treating a bone disease caused by a intracellular protein trafficking defect comprising: identifying a subject having the bone disease caused by the intracellular protein trafficking defect in a membrane bound transcription factor peptidase, site 1 (MBTPS1) gene; and providing the subject with an effective amount of a composition that bypasses or corrects a defect in MBTPS1 gene expression, gene splicing, or corrects protein trafficking defects in the endoplasmic reticulum and to the lysosome.