(Q39849450)

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Introducing the human Leigh syndrome mutation T9176G into Saccharomyces cerevisiae mitochondrial DNA leads to severe defects in the incorporation of Atp6p into the ATP synthase and in the mitochondrial morphology.

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19454486%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Introducing the human Leigh syndrome mutation T9176G into Saccharomyces cerevisiae mitochondrial DNA leads to severe defects in the incorporation of Atp6p into the ATP synthase and in the mitochondrial morphology (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19454486%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

mitochondrial DNA

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based on heuristic

inferred from title

Saccharomyces cerevisiae

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based on heuristic

inferred from title

Róża Kucharczyk

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19454486%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

author name string

Bénédicte Salin

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19454486%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

J-P di Rago

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19454486%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

publication date

18 May 2009

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19454486%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Human Molecular Genetics

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19454486%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

18

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28 January 2020

15

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28 January 2020

2889-2898

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19454486%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Oxidative phosphorylation at the fin de siècle

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Pathogenesis of primary defects in mitochondrial ATP synthesis.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Mitochondrial ATP synthase disorders: molecular mechanisms and the quest for curative therapeutic approaches

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Mechanics of coupling proton movements to c-ring rotation in ATP synthase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Maintenance and integrity of the mitochondrial genome: a plethora of nuclear genes in the budding yeast

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Yeast Cells Lacking the Mitochondrial Gene Encoding the ATP Synthase Subunit 6 Exhibit a Selective Loss of Complex IV and Unusual Mitochondrial Morphology

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Supercomplexes in the respiratory chains of yeast and mammalian mitochondria

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

The leader peptide of yeast Atp6p is required for efficient interaction with the Atp9p ring of the mitochondrial ATPase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

The metalloprotease encoded by ATP23 has a dual function in processing and assembly of subunit 6 of mitochondrial ATPase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

A yeast model of the neurogenic ataxia retinitis pigmentosa (NARP) T8993G mutation in the mitochondrial ATP synthase-6 gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Yeast cells depleted in Atp14p fail to assemble Atp6p within the ATP synthase and exhibit altered mitochondrial cristae morphology

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

The ATP synthase is involved in generating mitochondrial cristae morphology

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Failure to assemble the alpha 3 beta 3 subcomplex of the ATP synthase leads to accumulation of the alpha and beta subunits within inclusion bodies and the loss of mitochondrial cristae in Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

The modification of the conserved GXXXG motif of the membrane-spanning segment of subunit g destabilizes the supramolecular species of yeast ATP synthase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

The modulation in subunits e and g amounts of yeast ATP synthase modifies mitochondrial cristae morphology

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

An investigation of mitochondrial inner membranes by rapid-freeze deep-etch techniques

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

The cristal membrane of mitochondria is the principal site of oxidative phosphorylation.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Structural interactions between transmembrane helices 4 and 5 of subunit a and the subunit c ring of Escherichia coli ATP synthase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Methods to determine the status of mitochondrial ATP synthase assembly

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

The Saccharomyces cerevisiae ATP synthase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Function, structure, and biogenesis of mitochondrial ATP synthase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Assembly of F0 in Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Atp10p assists assembly of Atp6p into the F0 unit of the yeast mitochondrial ATPase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Assembly of F0 sector of Escherichia coli H+ ATP synthase. Interdependence of subunit insertion into the membrane.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Identification of a nuclear gene (FMC1) required for the assembly/stability of yeast mitochondrial F(1)-ATPase in heat stress conditions

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Structure, functioning, and assembly of the ATP synthase in cells from patients with the T8993G mitochondrial DNA mutation. Comparison with the enzyme in Rho(0) cells completely lacking mtdna

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

ATP6 homoplasmic mutations inhibit and destabilize the human F1F0-ATP synthase without preventing enzyme assembly and oligomerization.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Biochemical consequences in yeast of the human mitochondrial DNA 8993T>C mutation in the ATPase6 gene found in NARP/MILS patients

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

F1-catalysed ATP hydrolysis is required for mitochondrial biogenesis in Saccharomyces cerevisiae growing under conditions where it cannot respire

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Mitochondria: more than just a powerhouse

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Mitochondria: dynamic organelles in disease, aging, and development

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

A lethal defect of mitochondrial and peroxisomal fission

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Proteolytic processing of OPA1 links mitochondrial dysfunction to alterations in mitochondrial morphology

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Dimer ribbons of ATP synthase shape the inner mitochondrial membrane

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Cristae formation-linking ultrastructure and function of mitochondria

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Mitochondrial fusion intermediates revealed in vitro

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Expression of a recoded nuclear gene inserted into yeast mitochondrial DNA is limited by mRNA-specific translational activation.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP226

21 January 2018

Identifiers

10.1093/HMG/DDP226

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19454486%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19454486%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

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