A5033780510- Immunodeficiency and Autoimmune Disorders
- Cardiac electrophysiology and arrhythmias
- Immune Cell Function and Interaction
- Inflammasome and immune disorders
- Diabetes and associated disorders
- Cancer-related molecular mechanisms research
- Cardiac Valve Diseases and Treatments
- Proteoglycans and glycosaminoglycans research
- RNA modifications and cancer
National Institute of Allergy and Infectious Diseases
2022-2024
National Institutes of Health
2022-2023
Inborn errors of immunity (IEIs) unveil regulatory pathways human immunity. We describe a new IEI caused by mutations in the GTPase immune-associated protein 6 (GIMAP6) gene patients with infections, lymphoproliferation, autoimmunity, and multiorgan vasculitis. Patients Gimap6-/- mice show defects autophagy, redox regulation, polyunsaturated fatty acid (PUFA)-containing lipids. find that GIMAP6 complexes GABARAPL2 GIMAP7 to regulate activity. Also, is induced IFN-γ plays critical role...
T cell receptor (TCR) engagement causes a global cellular response that entrains signaling pathways, cycle regulation, and death. The molecular regulation of mRNA translation in these processes is poorly understood. Using whole-genome CRISPR screen for regulators CD95 (FAS/APO-1)-mediated death, we identified AMBRA1, protein previously studied its roles autophagy, E3 ubiquitin ligase activity, cyclin regulation. cells lacking AMBRA1 resisted FAS-mediated death by down-regulating FAS...