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Human Cell Lines with NGLY1 Mutations for the Study of NGLY1 Deficiency and Therapeutic Development
Case ID:
TAB-3646
Web Published:
12/6/2022
Description:
Congenital disorders of glycosylation (CDGs) are a group of inborn errors characterized by abnormalities in the process of glycosylation of biomolecules. Although more than 100 different CDGs have been reported, only one has been thoroughly described, namely NGLY1 deficiency or NGLY1-CDG. NGLY1 encodes N-glycanase 1, an enzyme involved in the cytosolic degradation of misfolded glycoproteins and other glycoproteins bound for degradation. This technology includes fifteen fibroblast cell lines isolated from patients from 2.5 years to 21.3 years to be used to study the defects in NGLY1 gene and protein and to screen small molecules for involvement in NGLY1 deficiency. They could also be used to generate induced pluripotent stem cells (iPSCs) as models of this deficiency.
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Direct Link:
https://nih.technologypublisher.com/tech/Human_Cell_Lines_with_NGLY1_Mutation s_for_the_Study_of_NGLY1_Deficiency_and_Therapeutic_Development
Category(s):
Research Materials
Neurology
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For Information, Contact:
Anna Solowiej
Senior Licensing and Patenting Manager
NIH Technology Transfer
301-435-7791
anna.solowiej@nih.gov
Inventors:
William Gahl
May Malicdan
Lynne Wolfe
Keywords:
Cell
Human
Lines
Mutations
NGL
VEXXXX
WIXXXX
Y1
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