(Q44904954)

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Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase

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Europe PubMed Central

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7 December 2017

Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase (English)

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Europe PubMed Central

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7 December 2017

Johannes A Mayr

1

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7 December 2017

author name string

Jan Paul

2

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7 December 2017

Petr Pecina

3

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7 December 2017

Peter Kurnik

4

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7 December 2017

Holger Förster

5

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7 December 2017

Ulrike Fötschl

6

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7 December 2017

Wolfgang Sperl

7

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7 December 2017

Josef Houstek

8

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7 December 2017

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1 June 2004

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7 December 2017

Pediatric Research

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7 December 2017

55

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7 December 2017

6

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7 December 2017

988-994

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7 December 2017

https://scigraph.springernature.com/pub.10.1203/01.pdr.0000127016.67809.6b

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1 reference

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Sequence and organization of the human mitochondrial genome

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Maternally inherited Leigh syndrome.

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

1 reference

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21 January 2018

Pathogenesis of primary defects in mitochondrial ATP synthesis.

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Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria

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21 January 2018

An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria.

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21 January 2018

Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines

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21 January 2018

Measurement of protein using bicinchoninic acid

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High resolution respirometry of permeabilized skeletal muscle fibers in the diagnosis of neuromuscular disorders.

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21 January 2018

Analysis of molecular masses and oligomeric states of protein complexes by blue native electrophoresis and isolation of membrane protein complexes by two-dimensional native electrophoresis

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Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa

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21 January 2018

Mitochondrial threshold effects.

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Role of mitochondria in oxidative stress and aging

1 reference

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Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene

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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

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21 January 2018

Identification of two nuclear genes (ATP11, ATP12) required for assembly of the yeast F1-ATPase

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21 January 2018

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

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21 January 2018

Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria

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21 January 2018

A novel deficiency of mitochondrial ATPase of nuclear origin

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

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

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21 January 2018

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

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21 January 2018

Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle

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21 January 2018

Biochemical and molecular investigations in respiratory chain deficiencies

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21 January 2018

Activities of mitochondrial oxidative phosphorylation enzymes in cultured amniocytes

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Threshold effect and tissue specificity. Implication for mitochondrial cytopathies

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Assembly of mitochondrial ATP synthase in cultured human cells: implications for mitochondrial diseases

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21 January 2018

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10.1203/01.PDR.0000127016.67809.6B

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Europe PubMed Central

PubMed publication ID

7 December 2017

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

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