The molecular basis of human complex I deficiency. (Q37902119)

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7 February 2020

review article

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title

The molecular basis of human complex I deficiency (English)

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7 February 2020

2

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7 February 2020

David Thorburn

series ordinal

4

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7 February 2020

1

Elena J Tucker

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7 February 2020

3

Sarah E Calvo

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7 February 2020

publication date

15 July 2011

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7 February 2020

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7 February 2020

volume

63

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7 February 2020

issue

9

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7 February 2020

page(s)

669-677

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Minimum birth prevalence of mitochondrial respiratory chain disorders in children

7 February 2020

cites work

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Clinical spectrum and diagnosis of mitochondrial disorders

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The architecture of respiratory complex I

21 January 2018

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Functional modules and structural basis of conformational coupling in mitochondrial complex I.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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C6ORF66 is an assembly factor of mitochondrial complex I

21 January 2018

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

21 January 2018

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A mitochondrial protein compendium elucidates complex I disease biology

21 January 2018

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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

21 January 2018

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

21 January 2018

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AIF deficiency compromises oxidative phosphorylation

21 January 2018

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Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin

21 January 2018

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Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly

21 January 2018

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Involvement of two novel chaperones in the assembly of mitochondrial NADH:Ubiquinone oxidoreductase (complex I).

21 January 2018

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Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I

21 January 2018

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Assembly factors of human mitochondrial complex I and their defects in disease

21 January 2018

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Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

21 January 2018

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Diagnostic criteria for respiratory chain disorders in adults and children.

21 January 2018

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Respiratory chain enzyme analysis in muscle and liver.

21 January 2018

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Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

21 January 2018

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

21 January 2018

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

21 January 2018

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

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A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

21 January 2018

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Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough

21 January 2018

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Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

21 January 2018

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Pathogenic mitochondrial DNA mutations are common in the general population

21 January 2018

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Mitochondrial disorders: prevalence, myths and advances.

21 January 2018

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Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

21 January 2018

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Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

21 January 2018

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The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

21 January 2018

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Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

21 January 2018

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Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects

21 January 2018

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A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome

21 January 2018

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Clinical and molecular findings in children with complex I deficiency

21 January 2018

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A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease

21 January 2018

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Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

21 January 2018

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Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

21 January 2018

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Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect

21 January 2018

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A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.

21 January 2018

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FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

21 January 2018

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Sequencing technologies - the next generation

21 January 2018

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The Mitochondrial Proteome and Human Disease

21 January 2018

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Tracing the evolution of a large protein complex in the eukaryotes, NADH:ubiquinone oxidoreductase (Complex I).

21 January 2018

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

21 January 2018

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Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/IUB.495

1 reference

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7 February 2020

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