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
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S1.xlsx › SNVs
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.
Jauss RT et al.
Genes, 2022
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
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama K et al.
Journal of Medical Genetics, 2019
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