(Q78193904)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467733%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

title

Modeling the Leigh syndrome nt8993 T-->C mutation in Escherichia coli F1F0 ATP synthase (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467733%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

1 reference

P E Hartzog

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467733%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

J L Gardner

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467733%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

B D Cain

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467733%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

publication date

1 July 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467733%20AND%20SRC:MED&resulttype=core&format=json

International Journal of Biochemistry & Cell Biology

12 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467733%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

volume

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467733%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467733%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

page(s)

769-776

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467733%20AND%20SRC:MED&resulttype=core&format=json

Diseases of the mitochondrial DNA.

12 December 2019

cites work

1 reference

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7 January 2021

Mitochondrial DNA alterations and genetic diseases: a review

1 reference

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7 January 2021

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

Maternally inherited Leigh syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

Brain and muscle energy metabolism studied in vivo by 31P-magnetic resonance spectroscopy in NARP syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

Cardiac mitochondrial dysfunction in Leigh syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

1 reference

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7 January 2021

Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

1 reference

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7 January 2021

Correlation between the Clinical Symptoms and the Proportion of Mitochondrial DNA Carrying the 8993 Point Mutation in the NARP Syndrome

1 reference

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7 January 2021

The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

Mutagenic analysis of the a subunit of the F1F0 ATP synthase in Escherichia coli: Gln-252 through Tyr-263

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

Escherichia coli mutants defective in the uncH gene

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

Amino acid substitutions in the a subunit affect the epsilon subunit of F1F0 ATP synthase from Escherichia coli

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

On the role of Arg-210 and Glu-219 of subunit a in proton translocation by the Escherichia coli F0F1-ATP synthase

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

Functional stability of the a-subunit of the F0F1-ATPase from Escherichia coli is affected by mutations in three proline residues

1 reference

https://api.crossref.org/works/10.1016%2FS1357-2725%2899%2900029-1

7 January 2021

10.1016/S1357-2725(99)00029-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467733%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

1 reference