(Q35108601)

6 August 2017

title

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations (English)

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6 August 2017

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3

Emma L Blakely

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6 August 2017

Robert William Taylor

series ordinal

13

object named as

Robert W Taylor

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6 August 2017

1

Helen Swalwell

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Douglass Matthew Turnbull

6 August 2017

series ordinal

11

object named as

Douglass M Turnbull

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6 August 2017

8

Elena J Tucker

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6 August 2017

4

Anna Mitchell

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6 August 2017

12

Robert McFarland

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6 August 2017

2

Denise M Kirby

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6 August 2017

14

David R Thorburn

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6 August 2017

6

Canny Sugiana

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6 August 2017

5

Renato Salemi

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6 August 2017

7

Alison G Compton

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6 August 2017

Bi-Xia Ke

9

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6 August 2017

Phillipa J Lamont

series ordinal

10

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6 August 2017

publication date

2 March 2011

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European Journal of Human Genetics

6 August 2017

published in

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6 August 2017

volume

19

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6 August 2017

issue

7

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6 August 2017

page(s)

769-775

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describes a project that uses

6 August 2017

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https://scigraph.springernature.com/pub.10.1038/ejhg.2011.18

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Next generation sequence analysis for mitochondrial disorders

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

A mitochondrial protein compendium elucidates complex I disease biology

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

NDUFA2 complex I mutation leads to Leigh disease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

An enhanced MITOMAP with a global mtDNA mutational phylogeny

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Bovine complex I is a complex of 45 different subunits.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Molecular diagnostics of mitochondrial disorders

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Mitochondrial disorders: prevalence, myths and advances.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Human NADH:ubiquinone oxidoreductase

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Respiratory chain complex I deficiency

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Progressive encephalopathy and complex I deficiency associated with mutations in MTND1.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

MELAS associated with mutations in the POLG1 gene.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Secondary metabolic effects in complex I deficiency

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Clinical and molecular findings in children with complex I deficiency

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Mutations of the mitochondrial ND1 gene as a cause of MELAS.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Significance of respirasomes for the assembly/stability of human respiratory chain complex I.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Diagnostic criteria for respiratory chain disorders in adults and children.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137493

The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy

27 September 2018

1 reference

12 December 2020

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia

1 reference

12 December 2020

Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria

1 reference

12 December 2020

Unusual features of mitochondrial degeneration in skeletal muscle of patients with nuclear complex I mutation

1 reference

12 December 2020

Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene

1 reference

12 December 2020

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2011.18

1 reference

Dimensions Publication ID

6 August 2017

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1 reference

6 August 2017

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