HOME
SEARCH
RSS FEED
SUBSCRIBE
Mouse Model Created Using Glucocerebrosidase-Deficient Neuronal Cell Line to Study Gaucher Disease Pathophysiology and Evaluate New Therapies
Case ID:
TAB-3638
Web Published:
12/6/2022
Description:
This technology includes a high-yield, easy-to-culture mouse neuronal cell model with nearly complete glucocerebrosidase deficiency representative of Gaucher disease (GD) to study pathophysiology and evaluate new therapies. GD is an autosomal recessive lysosomal storage disorder caused by loss-of function mutations in the GBA1 gene, which codes for the lysosomal hydrolase glucocerebrosidase (GCase). Inventors have successfully immortalized cortical neurons from embryonic null allele GBA-/- mice and the control littermate (GBA+/+) by infecting differentiated primary cortical neurons in culture with an EF1aSV40T lentivirus. Immortalized GBA-/- neurons lack glucocerebrosidase protein and enzyme activity and exhibit a dramatic increase in glucosylceramide and glucosylsphingosine accumulation,enlarged lysosomes, and an impaired ATP-dependent calcium-influx response.
Patent Information:
Title
App Type
Country
Serial No.
Patent No.
File Date
Issued Date
Expire Date
Patent Status
Direct Link:
https://nih.technologypublisher.com/tech/Mouse_Model_Created_Using_Glucocereb rosidase-Deficient_Neuronal_Cell_Line_to_Study_Gaucher_Disease_Pathophysiolo gy_and_Evaluate_New_Therapies
Category(s):
Neurology
Research Materials
Dental
Therapeutics
Oncology
Endocrinology
Ophthalmology
Cardiology
Infectious Disease
Bookmark this page
Download as PDF
For Information, Contact:
Eggerton Campbell
Licensing And Patenting Manager
NIH Technology Transfer
301-402-1648
eggerton.campbell@nih.gov
Inventors:
Matthew Nguyen
Wendy Westbroek
Nahid Tayebi
Ellen Sidransky
Keywords:
Cell
DEFICIENT
Disease
Gaucher
GLUCOCEREBROSIDASE
Line
Model
Mouse
NEURONAL
VEXXXX
VPXXXX
WIXXXX
XEXXXX
Home
|
Search
|
RSS
|
Subscribe
© 2024. All Rights Reserved. Powered by
Inteum