Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation. [electronic resource]
- Blood Oct 2013
- 2390-401 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1528-0020
10.1182/blood-2013-01-480814 doi
Alkaloids--pharmacology Base Sequence Blotting, Western Child Enzyme Inhibitors--pharmacology Female Flow Cytometry Genetic Predisposition to Disease--genetics Glycosylation--drug effects Humans Male Microscopy, Confocal Molecular Sequence Data Mutation Mycobacterium Infections--genetics Pedigree Proteostasis Deficiencies--genetics Receptors, Interferon--deficiency Transfection