Associated Papers
Structural and functional understanding of disease-associated mutations in V-ATPase subunit a1 and other isoforms.
Indrawinata K et al.
Frontiers in Molecular Neuroscience, 2023
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice.
Aoto K et al.
Nature Communications, 2021
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
Bott LC et al.
Brain Communications, 2021
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