original ) (raw )The pathogenic m.8993 T > G mutation in mitochondrial ATP6 gene prevents proton release from the subunit c-ring rotor of ATP synthase
Alain Dautant
Human Molecular Genetics, 2021
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Pathogenesis of primary defects in mitochondrial ATP synthesis
Francesco Pallotti
Seminars in Cell & Developmental Biology, 2001
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Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene
Martha Vázquez-memije , R. Carrozzo , Claudia Nesti
Journal of Cellular Biochemistry, 2009
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Functional investigation of an universally conserved leucine residue in subunit a of ATP synthase targeted by the pathogenic m.9176 T>G mutation
Alain Dautant
Biochim Biophys Acta Bioenerg, 2019
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Mutation in Hydrophobic Domain of ATP Synthase Subunit 4 (Subunit b) of Yeast Mitochondria Disturbs Coupling between Proton Translocation and Catalysis
Michel Rigoulet
Biochemistry, 1994
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Molecular Basis of the Pathogenic Mechanism Induced by the m.9191T>C Mutation in Mitochondrial ATP6 Gene
Alain Dautant
International Journal of Molecular Sciences
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Molecular basis of diseases caused by the mtDNA mutation m.8969G>A in the subunit a of ATP synthase
Alain Dautant
Biochim Biophys Acta Bioenerg, 2018
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Nuclear genetic defects of mitochondrial ATP synthase
Katerina Tauchmannova
Physiological research / Academia Scientiarum Bohemoslovaca, 2014
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Each of three positively-charged amino acids in the C-terminal region of yeast mitochondrial ATP synthase subunit 8 is required for assembly
Phillip Nagley
Biochimica et Biophysica Acta (BBA) - Bioenergetics, 1993
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Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations
iain hargreaves
Neurology Genetics, 2020
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ATP-dependent Rotation of Mutant ATP Synthases Defective in Proton Transport
Masamitsu Futai
Journal of Biological Chemistry, 2005
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Assembly-dependent translation of subunits 6 (Atp6) and 9 (Atp9) of ATP synthase in yeast mitochondria
Kewin GOMBEAU
Genetics, 2022
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ATP Synthase Diseases of Mitochondrial Genetic Origin
Alain Dautant
Front Physiol. 2018 Apr 4;9:329. doi: eCollection 2018., 2018
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Mitochondrial diseases and genetic defects of ATP synthase
Petr Pecina
Biochimica et Biophysica Acta (BBA) - Bioenergetics, 2006
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Defining the Pathogenesis of the Human Atp12p W94R Mutation Using a Saccharomyces cerevisiae Yeast Model
Sharon Ackerman
Journal of Biological Chemistry, 2010
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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Mahshid Azamian
American journal of human genetics, 2018
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Impaired ATP Synthase Assembly Associated with a Mutation in the Human ATP Synthase Subunit 6 Gene
Leo Nijtmans
Journal of Biological Chemistry, 2001
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Velours et al (2011) JBC - Evidence of the Proximity of ATP Synthase Subunits 6 (a) in the Inner Mitochondrial Membrane and in the Supramolecular Forms of Saccharomyces cerevisiae ATP …
Alain Dautant , Daniel Brèthes
Journal of Biological …, 2011
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Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 subunit
Vilma Kaplanova , Alena Pecinová
Human Molecular Genetics, 2010
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The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli
R. Carrozzo
FEBS Letters, 2000
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Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations
Kerrie Venner
Neurology Genetics, 2020
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Insights into ATP synthase assembly and function through the molecular genetic manipulation of subunits of the yeast mitochondrial enzyme complex
Xavier Roucou
Biochimica et Biophysica Acta (BBA) - Bioenergetics, 2000
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Altered properties of mitochondrial ATP-synthase in patients with a T → G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA
Jiri Zeman
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1995
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Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993
Marina Mattiazzi , G. Sgarbi
Biochimica et Biophysica Acta (BBA) - Bioenergetics, 2007
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Assembly of functional proton-translocating ATPase complex in yeast mitochondria with cytoplasmically synthesized subunit 8, a polypeptide normally encoded within the organelle
Phillip Nagley
Proceedings of the National Academy of Sciences, 1988
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Non-functional variants of yeast mitochondrial ATP synthase subunit 8 that assemble into the complex
Phillip Nagley
IUBMB Life, 1996
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Lefebvre-Legendre et al (2005) JBC - Failure to Assemble the α3 β3 Subcomplex of the ATP Synthase Leads to Accumulation of the α and β Subunits within Inclusion Bodies and the Loss of Mitochondrial …
Alain Dautant , Daniel Brèthes
Journal of Biological …, 2005
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