Associated Papers
Cryo-EM structure of the ATP11C Q79E mutant reveals the structural basis for altered Phospholipid recognition.
Qian Y et al.
The Journal of Biological Chemistry, 2026
De novo heterozygous missense variants in ATP11A are associated with refractory focal epilepsy.
Ye ZL et al.
Journal of Medical Genetics, 2025
Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disorders.
Calianese DC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.
Chepurwar S et al.
Human Molecular Genetics, 2023
A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes.
Segawa K et al.
The Journal of Clinical Investigation, 2021
Select a paper to view details