Moncada-Vélez, Marcela

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