Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency (Q34148592)

31 July 2017

title

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency (English)

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17

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8

Eleonora Lamantea

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Thorsten Schmidt

14

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Federica Invernizzi

Federica Invernizzi

9

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Holger Prokisch

Holger Prokisch

19

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Hans-Werner Mewes

Hans-Werner Mewes

15

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Joanna Poulton

Joanna Poulton

10

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Massimo Zeviani

18

Massimo Zeviani

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Graziella Uziel

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Ilka Wittig

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1

Tobias B Haack

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2

Katharina Danhauser

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12

Arcangela Iuso

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5

Valentina Strecker

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3

Birgit Haberberger

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Boris Rolinski

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Jonathan Hoser

4

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Detlef Boehm

6

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Saskia Biskup

13

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language of work or name

English

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publication date

7 November 2010

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volume

42

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issue

12

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page(s)

1131-1134

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Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids

31 July 2017

cites work

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12 December 2020

A genome-wide association study identifies three loci associated with mean platelet volume

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12 December 2020

dbSNP: the NCBI database of genetic variation

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12 December 2020

A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency

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12 December 2020

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

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12 December 2020

Targeted capture and massively parallel sequencing of 12 human exomes

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12 December 2020

Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family

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12 December 2020

The Sequence Alignment/Map format and SAMtools

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12 December 2020

Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy

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12 December 2020

Respiratory chain complex I deficiency

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12 December 2020

MutationTaster evaluates disease-causing potential of sequence alterations

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12 December 2020

Isoalloxazine ring of FAD is required for the formation of the core in the Hsp60-assisted folding of medium chain acyl-CoA dehydrogenase subunit into the assembly competent conformation in mitochondria

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12 December 2020

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

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12 December 2020

BFAST: an alignment tool for large scale genome resequencing

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12 December 2020

Down-regulation of mitochondrial acyl carrier protein in mammalian cells compromises protein lipoylation and respiratory complex I and results in cell death

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12 December 2020

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

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12 December 2020

The mitochondrial proteome database: MitoP2.

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12 December 2020

Analysis of mitochondrial function in situ in permeabilized muscle fibers, tissues and cells

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12 December 2020

Exome sequencing of a multigenerational human pedigree

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12 December 2020

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

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12 December 2020

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I

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12 December 2020

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

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12 December 2020

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12 December 2020

Mitochondrial dysfunction of a cultured Chinese hamster ovary cell mutant deficient in cardiolipin

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12 December 2020

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12 December 2020

Exome sequencing identifies the cause of a mendelian disorder

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12 December 2020

The International HapMap Project

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12 December 2020

Carvedilol inhibits mitochondrial complex I and induces resistance to H2O2-mediated oxidative insult in H9C2 myocardial cells

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12 December 2020

Identifiers

DOI

10.1038/NG.706

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31 July 2017

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