Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1 (Q24294279)

mitochondrial respiratory chain complex I assembly

GOA release 2020-03-11

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GOA release 2020-03-11

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Elena J Tucker

2

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Alison Compton

Alison G Compton

3

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Michael Lazarou

Michael Lazarou

4

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Michael T Ryan

Michael T Ryan

7

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Matthew McKenzie

Matthew McKenzie

1

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David Thorburn

David R Thorburn

6

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author name string

Christa George

Journal of Molecular Biology

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language of work or name

English

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publication date

2 December 2011

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published in

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volume

414

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issue

3

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page(s)

413-26

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cites work

Respiratory chain complex I deficiency

1 reference

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7 January 2021

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

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Three-dimensional structure of bovine NADH:ubiquinone oxidoreductase (complex I) at 22 A in ice.

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7 January 2021

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

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7 January 2021

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

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7 January 2021

Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form

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7 January 2021

Analysis of mitochondrial subunit assembly into respiratory chain complexes using Blue Native polyacrylamide gel electrophoresis.

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7 January 2021

C6ORF66 is an assembly factor of mitochondrial complex I

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Assembly of mitochondrial complex I and defects in disease

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7 January 2021

A mitochondrial protein compendium elucidates complex I disease biology

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7 January 2021

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

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7 January 2021

The structure of eukaryotic and prokaryotic complex I.

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7 January 2021

Respiratory complex I: 'steam engine' of the cell?

1 reference

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7 January 2021

The unique neuroradiology of complex I deficiency due to NDUFA12L defect

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7 January 2021

Chapter 18 Analysis of respiratory chain complex assembly with radiolabeled nuclear- and mitochondrial-encoded subunits.

1 reference

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7 January 2021

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FJ.JMB.2011.10.012

7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

A scaffold of accessory subunits links the peripheral arm and the distal proton-pumping module of mitochondrial complex I

1 reference

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7 January 2021

Insertion and assembly of human tom7 into the preprotein translocase complex of the outer mitochondrial membrane

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7 January 2021

A role for native lipids in the stabilization and two-dimensional crystallization of the Escherichia coli NADH-ubiquinone oxidoreductase (complex I).

1 reference

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7 January 2021

Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency

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https://api.crossref.org/works/10.1016%2FJ.JMB.2011.10.012

7 January 2021

Bovine complex I is a complex of 45 different subunits.

1 reference

https://api.crossref.org/works/10.1016%2FJ.JMB.2011.10.012

7 January 2021

Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits

1 reference

https://api.crossref.org/works/10.1016%2FJ.JMB.2011.10.012

7 January 2021

Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells

1 reference

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7 January 2021

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

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7 January 2021

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

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7 January 2021

Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency

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7 January 2021

Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.JMB.2011.10.012

7 January 2021

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

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7 January 2021

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.JMB.2011.10.012

7 January 2021

Human mitochondrial complex I assembly is mediated by NDUFAF1.

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https://api.crossref.org/works/10.1016%2FJ.JMB.2011.10.012

7 January 2021

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

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7 January 2021

Five entry points of the mitochondrially encoded subunits in mammalian complex I assembly

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7 January 2021

Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I

1 reference

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7 January 2021

Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FJ.JMB.2011.10.012

7 January 2021

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

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7 January 2021

Energy converting NADH:quinone oxidoreductase (complex I).

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https://api.crossref.org/works/10.1016%2FJ.JMB.2011.10.012

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FJ.JMB.2011.10.012

7 January 2021

Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

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7 January 2021

MidA is a putative methyltransferase that is required for mitochondrial complex I function

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7 January 2021

10.1016/J.JMB.2011.10.012

Identifiers

DOI

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Consolidated OpenCitations Corpus – April 2017

1547309

1547309

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Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

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