(Q49121755)

18 February 2018

title

Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA. (English)

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18 February 2018

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3

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18 February 2018

Willy Lissens

8

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18 February 2018

author name string

Joél Smet

1

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18 February 2018

Sara Seneca

2

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18 February 2018

Ann Meulemans

4

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18 February 2018

Helene Verhelst

5

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18 February 2018

Jules Leroy

6

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18 February 2018

Linda De Meirleir

7

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18 February 2018

Rudy Van Coster

9

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18 February 2018

publication date

1 October 2009

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18 February 2018

published in

Electrophoresis

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18 February 2018

volume

30

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18 February 2018

issue

20

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18 February 2018

page(s)

3565-3572

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18 February 2018

Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects.

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An electron-transport system associated with the outer membrane of liver mitochondria. A biochemical and morphological study

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Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liver

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Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.

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Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels.

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Linezolid-induced inhibition of mitochondrial protein synthesis.

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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

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The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

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Infantile presentation of the mitochondrial A8344G mutation

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A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.

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A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis

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The peripheral stalk of the mitochondrial ATP synthase

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7 January 2021

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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7 January 2021

Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders

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7 January 2021

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

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7 January 2021

A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy

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Isolation of human cell lines lacking mitochondrial DNA.

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Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

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Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

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7 January 2021

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

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7 January 2021

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

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7 January 2021

Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

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7 January 2021

Oxazolidinones: activity, mode of action, and mechanism of resistance.

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7 January 2021

Identifiers

DOI

10.1002/ELPS.200900213

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18 February 2018

PubMed ID

19862739

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18 February 2018