(Q34163172)

31 July 2017

title

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families (English)

1 reference

31 July 2017

4

Emma L Blakely

1 reference

31 July 2017

Robert William Taylor

17

object named as

Robert W Taylor

1 reference

31 July 2017

Helen A L Tuppen

1

1 reference

31 July 2017

Vanessa E Hogan

2

1 reference

31 July 2017

Langping He

3

1 reference

31 July 2017

Lisa Worgan

5

1 reference

31 July 2017

Mazhor Al-Dosary

6

1 reference

31 July 2017

Gabriele Saretzki

7

1 reference

31 July 2017

Charlotte L Alston

8

1 reference

31 July 2017

Andrew A Morris

9

1 reference

31 July 2017

Michael Clarke

10

1 reference

31 July 2017

Simon Jones

11

1 reference

31 July 2017

Anita M Devlin

12

1 reference

31 July 2017

Sahar Mansour

13

1 reference

31 July 2017

Zofia M A Chrzanowska-Lightowlers

14

1 reference

31 July 2017

David R Thorburn

15

1 reference

31 July 2017

Robert McFarland

16

1 reference

31 July 2017

language of work or name

English

0 references

publication date

6 September 2010

1 reference

31 July 2017

1 reference

31 July 2017

volume

133

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31 July 2017

issue

10

1 reference

31 July 2017

page(s)

2952-2963

1 reference

Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.

31 July 2017

cites work

1 reference

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

5 July 2018

1 reference

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

5 July 2018

1 reference

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

5 July 2018

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Electrophoresis techniques to investigate defects in oxidative phosphorylation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947428

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

5 July 2018

1 reference

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A mitochondrial protein compendium elucidates complex I disease biology

5 July 2018

1 reference

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NDUFA2 complex I mutation leads to Leigh 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=2947428

C6ORF66 is an assembly factor of mitochondrial complex I

5 July 2018

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Downregulation of multiple stress defense mechanisms during differentiation of human embryonic stem cells

5 July 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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947428

Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause 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=2947428

Biochemical assays of respiratory chain complex activity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947428

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

5 July 2018

1 reference

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X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

5 July 2018

1 reference

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947428

Bovine complex I is a complex of 45 different subunits.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947428

Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of 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=2947428

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=2947428

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene

5 July 2018

1 reference

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Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947428

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=2947428

The PredictProtein server

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947428

Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 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=2947428

Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited 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=2947428

Mutant NDUFS3 subunit of mitochondrial complex I causes 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=2947428

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=2947428

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=2947428

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=2947428

Blue Native electrophoresis to study mitochondrial and other protein complexes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947428

Respiratory chain 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=2947428

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in 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=2947428

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947428

Primer3 on the WWW for general users and for biologist programmers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947428

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of 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=2947428

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=2947428

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=2947428

cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947428

Three-dimensional structure of NADH-dehydrogenase from Neurospora crassa by electron microscopy and conical tilt reconstruction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947428

The NADH:ubiquinone oxidoreductase (complex I) of respiratory chains

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947428

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

5 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ232

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ232

Clinical and molecular findings in children with complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ232

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ232

Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ232

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ232

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ232

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ232

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ232

Superoxide production is inversely related to complex I activity in inherited complex I deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ232

Application of the obligate aerobic yeast Yarrowia lipolytica as a eucaryotic model to analyse Leigh syndrome mutations in the complex I core subunits PSST and TYKY

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ232

Severe complex I deficiency in a case of neonatal-onset lactic acidosis and fatal liver failure

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20819849

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20819849

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWQ232

1 reference

31 July 2017

1 reference

31 July 2017

1 reference