UNIVERSITY OF OKLAHOMA HEALTH SCIENCE CENTER;OKLAHOMA MEDICAL RESEARCH FOUNDATION
发明人:
KONDO, YUJI,FU, JIANXIN,WANG, HUA,WIERENGA, KLAAS,GAFFNEY, PATRICK M.,XIA, LIJUN
申请号：
CA3079838
公开号：
CA3079838A1
申请日:
2018.10.23
申请国别(地区):
CA
年份:
2019
代理人:
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.
