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
From the Structural and (Dys)Function of ATP Synthase to Deficiency in Age-Related Diseases.
Garone C et al.
Life (basel, Switzerland), 2022
The ATP Synthase Deficiency in Human Diseases.
Galber C et al.
Life (basel, Switzerland), 2021
Targeted exome sequencing of suspected mitochondrial disorders.
Lieber DS et al.
Neurology, 2013
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