(Q34136223)

31 July 2017

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

1 reference

31 July 2017

14

1 reference

31 July 2017

8

Candace Guiducci

0 references

Alison Compton

Alison G Compton

3

0 references

David Thorburn

David R Thorburn

17

0 references

Mark Joseph Daly

16

Mark J Daly

1 reference

31 July 2017

15

Stacey B Gabriel

1 reference

31 July 2017

2

Elena J Tucker

1 reference

31 July 2017

Michelle Redman-MacLaren

11

Michelle C Redman

1 reference

31 July 2017

18

Vamsi K Mootha

1 reference

31 July 2017

1

Sarah E Calvo

1 reference

31 July 2017

Denise M Kirby

4

1 reference

31 July 2017

Gabriel Crawford

5

1 reference

31 July 2017

Noel P Burtt

6

1 reference

31 July 2017

Manuel Rivas

7

1 reference

31 July 2017

Damien L Bruno

9

1 reference

31 July 2017

Olga A Goldberger

10

1 reference

31 July 2017

Esko Wiltshire

12

1 reference

31 July 2017

Callum J Wilson

13

1 reference

31 July 2017

language of work or name

English

0 references

publication date

5 September 2010

1 reference

31 July 2017

1 reference

31 July 2017

42

1 reference

31 July 2017

851-858

1 reference

31 July 2017

10

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.659

31 July 2017

0 references

cites work

The UCSC Genome Browser

1 reference

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

Exome sequencing identifies the cause of a mendelian disorder

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

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

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

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

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

Targeted capture and massively parallel sequencing of 12 human exomes

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

The Sequence Alignment/Map format and SAMtools

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

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

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

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

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

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

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

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

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

The inheritance of pathogenic mitochondrial DNA mutations

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

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

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

SNP genotyping using the Sequenom MassARRAY iPLEX platform

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

Accurate whole human genome sequencing using reversible terminator chemistry

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

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

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

Mapping short DNA sequencing reads and calling variants using mapping quality scores

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

A mitochondrial protein compendium elucidates complex I disease biology

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

Assembly of mitochondrial complex I and defects in disease

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

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

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

A second generation human haplotype map of over 3.1 million SNPs

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

Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients

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

Mitochondrial complex I: structure, function and pathology

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

Assembly of mitochondrial cytochrome c-oxidase, a complicated and highly regulated cellular process

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

Systematic identification of human mitochondrial disease genes through integrative genomics

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

mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences

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

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

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

Mitochondrial DNA and disease

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

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

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

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

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

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

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

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

1 reference

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

Human NADH:ubiquinone oxidoreductase

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

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

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

dbSNP: the NCBI database of genetic variation

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

A combined algorithm for genome-wide prediction of protein function

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

Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

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

Assigning protein functions by comparative genome analysis: Protein phylogenetic profiles

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

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

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

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

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

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

1 reference

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

1 reference

Clinical and molecular findings in children with complex I deficiency

21 January 2018

1 reference

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

1 reference