(Q34644465)

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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

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Europe PubMed Central

PubMed publication ID

3 August 2017

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 (English)

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Europe PubMed Central

PubMed publication ID

3 August 2017

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Jean-Paul Bonnefont

10

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Jean-Paul Bonnefont

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3 August 2017

11

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Agnès Rötig

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3 August 2017

5

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Valérie Serre

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3 August 2017

Dominique Chrétien

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Dominique Chretien

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3 August 2017

6

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Noman Kadhom

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3 August 2017

1

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Sophie Lebon

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3 August 2017

7

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Julie Steffann

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3 August 2017

author name string

Limor Minai

2

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3 August 2017

Johanna Corcos

4

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3 August 2017

Jean-Yves Pauchard

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3 August 2017

publication date

28 June 2007

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3 August 2017

Molecular Genetics and Metabolism

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3 August 2017

92

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3 August 2017

1-2

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3 August 2017

104-108

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3 August 2017

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.010

7 January 2021

The nuclear encoded subunits of complex I from bovine heart mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.010

7 January 2021

Sporadic Intragenic Inversion of the Mitochondrial DNA MTND1 Gene Causing Fatal Infantile Lactic Acidosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.010

7 January 2021

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.010

7 January 2021

Blue Native electrophoresis to study mitochondrial and other protein complexes

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.010

7 January 2021

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.010

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.010

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.010

7 January 2021

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.010

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.010

7 January 2021

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.010

7 January 2021

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.010

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.010

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.010

7 January 2021

Disruption of iron-sulphur cluster N2 from NADH: ubiquinone oxidoreductase by site-directed mutagenesis.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.010

7 January 2021

A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.010

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.010

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.010

7 January 2021

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10.1016/J.YMGME.2007.05.010

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

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