Associated Papers
Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.
Tauchmannová K et al.
Physiological Research, 2024
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 mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
[Molecular bases of diseases caused by mutations in genes encoding subunits of ATP synthase].
Baranowska E et al.
Postepy Biochemii, 2018
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Oláhová M et al.
American Journal of Human Genetics, 2018
29478781 (PubMed )
Supplement: mmc2.pdf
Nuclear genetic defects of mitochondrial ATP synthase.
Hejzlarová K et al.
Physiological Research, 2014
Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.
De Paepe B et al.
Pediatric Research, 2012
Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model.
Meulemans A et al.
The Journal of Biological Chemistry, 2010
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12.
De Meirleir L et al.
Journal of Medical Genetics, 2004
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