The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Jul. 09, 2024
Filed:
Oct. 23, 2018
Oklahoma Medical Research Foundation, Oklahoma City, OK (US);
The Board of Regents of the University of Oklahoma, Norman, OK (US);
Yuji Kondo, Oklahoma City, OK (US);
Jianxin Fu, Oklahoma City, OK (US);
Hua Wang, Oklahoma City, OK (US);
Klaas Wierenga, Oklahoma City, OK (US);
Patrick M. Gaffney, Oklahoma City, OK (US);
Lijun Xia, Oklahoma City, OK (US);
Oklahoma Medical Research Foundation, Oklahoma City, OK (US);
The Board of Regents of the University of Oklahoma, Norman, OK (US);
Abstract
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.