Associated Papers
Functional validation of EIF2AK4 (GCN2) missense variants associated with pulmonary arterial hypertension.
Emanuelli G et al.
Human Molecular Genetics, 2024
Activation of Gcn2 by small molecules designed to be inhibitors.
Carlson KR et al.
The Journal of Biological Chemistry, 2023
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.
Eyries M et al.
Nature Genetics, 2014
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