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
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
The ATP Synthase Deficiency in Human Diseases.
Galber C et al.
Life (basel, Switzerland), 2021
[Molecular bases of diseases caused by mutations in genes encoding subunits of ATP synthase].
Baranowska E et al.
Postepy Biochemii, 2018
Nuclear genetic defects of mitochondrial ATP synthase.
Hejzlarová K et al.
Physiological Research, 2014
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.
Jonckheere AI et al.
Brain : a Journal of Neurology, 2013
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