Associated Papers
ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish.
Xian C et al.
Journal of Translational Medicine, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Fielder SM et al.
Embo Molecular Medicine, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Fielder SM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.
Harrer P et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Zech M et al.
Annals of Neurology, 2022
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
Lines MA et al.
European Journal of Human Genetics : Ejhg, 2021
A de novo mutation in mitochondrial ATPsynthase subunit α causes a life threatening disease in neonates which heals in infancy.
Zeviani M
European Journal of Human Genetics : Ejhg, 2021
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