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

1

Helen A. L. Tuppen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819849

7 July 2024

7

Gabriele Saretzki

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819849

7 July 2024

8

Charlotte L. Alston

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819849

Zofia M Chrzanowska-Lightowlers

7 July 2024

14

object named as

Zofia M. A. Chrzanowska-Lightowlers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819849

7 July 2024

15

David R. Thorburn

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819849

7 July 2024

16

Robert McFarland

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819849

7 July 2024

author name string

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

Michael Clarke

10

1 reference

31 July 2017

Simon Jones

11

1 reference

31 July 2017

Sahar Mansour

13

1 reference

31 July 2017

Vanessa E. Hogan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819849

7 July 2024

Andrew A. Morris

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819849

7 July 2024

Anita M. Devlin

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819849

7 July 2024

language of work or name

English

0 references

publication date

6 September 2010

1 reference

full work available at URL

31 July 2017

https://europepmc.org/articles/pmc2947428?pdf=render

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819849

http://brain.oxfordjournals.org/cgi/content/abstract/133/10/2952

7 July 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819849

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20819849/pdf/?tool=EBI

7 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819849

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20819849/?tool=EBI

7 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819849

https://europepmc.org/articles/PMC2947428

7 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819849

https://europepmc.org/articles/PMC2947428?pdf=render

7 July 2024

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819849

http://academic.oup.com/brain/article-pdf/133/10/2952/16697263/awq232.pdf

7 July 2024

https://api.crossref.org/works/10.1093/BRAIN/AWQ232

1 reference

7 July 2024

1 reference

31 July 2017

volume

133

1 reference

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

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5 July 2018

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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

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5 July 2018

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NDUFA2 complex I mutation leads to Leigh disease

5 July 2018

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C6ORF66 is an assembly factor of mitochondrial complex I

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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

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

5 July 2018

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5 July 2018

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

5 July 2018

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X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

5 July 2018

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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

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5 July 2018

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Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I

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

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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Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

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 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

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

21 January 2018

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21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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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