.../10.13039/501100000024 TANGO2 Research Foundation TANGO2 deficiency disorder Lipid imbalance Metabolic crises Neurodevelopmental disease Summary: TANGO2 deficiency disease, a rare condition featuring neurodegeneration and life-threatening metabolic crises, has a signature...

... stability Missense mutations Neurodevelopmental disease P4-ATPases Protein misfolding Disease mechanisms Summary: Biochemical studies and in silico protein stability analyses reveal molecular mechanisms underlying the neurodevelopmental disorder CAMRQ4 associated with missense mutations...