Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene (Q57987777)

Holger Prokisch

11

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Agnès Rötig

12

Agnès Rötig

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Ronald J A Wanders

6

Ronald J. A. Wanders

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Katharina Danhauser

3

Katharina Danhauser

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Bert Smeets

14

Hubert J. M. Smeets

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Mike Gerards

1

Mike Gerards

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author name string

Bianca J. C. van den Bosch

2

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Valérie Serre

4

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Gerry A. F. Nicolaes

7

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Wim Sluiter

8

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Kees Schoonderwoerd

9

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Hans R. Scholte

10

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Irenaeus F. M. de Coo

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

13

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language of work or name

English

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publication date

7 October 2010

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published in

Brain

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volume

134

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issue

1

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page(s)

210-219

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cites work

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Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

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Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

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Correct assay of complex I activity in human skin fibroblasts by timely addition of rotenone.

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Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease

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

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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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X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

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Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

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

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NDUFA2 complex I mutation leads to Leigh disease

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An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy

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Identification and application of the concepts important for accurate and reliable protein secondary structure prediction

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NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

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Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

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A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy

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C6ORF66 is an assembly factor of mitochondrial complex I

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Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease

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Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

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Paternal inheritance of mitochondrial DNA

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

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Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

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Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases

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