High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency (Q34136223)

31 July 2017

title

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

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14

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8

Candace Guiducci

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Alison Compton

Alison G Compton

3

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David Thorburn

David R Thorburn

17

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Mark Joseph Daly

16

Mark J Daly

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15

Stacey B Gabriel

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2

Elena J Tucker

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Michelle Redman-MacLaren

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Michelle C Redman

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18

Vamsi K Mootha

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1

Sarah E Calvo

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Denise M Kirby

4

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Gabriel Crawford

5

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Noel P Burtt

6

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Manuel Rivas

7

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Damien L Bruno

9

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Olga A Goldberger

10

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Esko Wiltshire

12

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Callum J Wilson

13

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language of work or name

English

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publication date

5 September 2010

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31 July 2017

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volume

42

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31 July 2017

issue

10

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31 July 2017

page(s)

851-858

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31 July 2017

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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The iron-sulphur protein Ind1 is required for effective complex I assembly

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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

5 July 2018

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5 July 2018

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

5 July 2018

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

5 July 2018

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Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

5 July 2018

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Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome

5 July 2018

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5 July 2018

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A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome

5 July 2018

1 reference

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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

5 July 2018

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

5 July 2018

1 reference

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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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2977978

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

5 July 2018

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Assessment of normal-appearing white and gray matter in patients with primary progressive multiple sclerosis: a diffusion-tensor magnetic resonance imaging study.

21 January 2018

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Clinical and molecular findings in children with complex I deficiency

21 January 2018

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The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

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

21 January 2018

1 reference

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

21 January 2018

1 reference

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

21 January 2018

1 reference

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

21 January 2018

1 reference

A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2977978

Diagnostic criteria for respiratory chain disorders in adults and children.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2977978

Mitochondrial disease criteria: Diagnostic applications in children

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20818383

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Inferring SNP function using evolutionary, structural, and computational methods

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20818383

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20818383

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.659

1 reference

Dimensions Publication ID

31 July 2017

0 references

1 reference

31 July 2017

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