Associated Papers
Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.
Tauchmannová K et al.
Physiological Research, 2024
Mitochondrial disease and epilepsy in children.
Zhang X et al.
Frontiers in Neurology, 2024
Unraveling the functional consequences of a novel germline missense mutation (R38C) in the yeast model of succinate dehydrogenase subunit B: insights into neurodegenerative disorders.
Zheng J et al.
Frontiers in Molecular Neuroscience, 2023
From the Structural and (Dys)Function of ATP Synthase to Deficiency in Age-Related Diseases.
Garone C et al.
Life (basel, Switzerland), 2022
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Zech M et al.
Annals of Neurology, 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
Biochemical investigation of a human pathogenic mutation in the nuclear ATP5E gene using yeast as a model.
Sardin E et al.
Frontiers in Genetics, 2015
Nuclear genetic defects of mitochondrial ATP synthase.
Hejzlarová K et al.
Physiological Research, 2014
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
Honzik T et al.
Journal of Inherited Metabolic Disease, 2012
Mitochondrial ATP synthase: architecture, function and pathology.
Jonckheere AI et al.
Journal of Inherited Metabolic Disease, 2012
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.
Mayr JA et al.
Human Molecular Genetics, 2010
Select a paper to view details