Mitochondrial complex I deficiency of nuclear origin I. Structural genes (Q37964862)

26 August 2017

Mitochondrial complex I deficiency of nuclear origin I. Structural genes (English)

1 reference

mitochondrial complex I deficiency

26 August 2017

1 reference

based on heuristic

inferred from title

author name string

Hélène Pagniez-Mammeri

1

1 reference

26 August 2017

Sandrine Loublier

2

1 reference

26 August 2017

Alain Legrand

3

1 reference

26 August 2017

Paule Bénit

4

1 reference

26 August 2017

Pierre Rustin

5

1 reference

26 August 2017

Abdelhamid Slama

6

1 reference

26 August 2017

18 November 2011

1 reference

Molecular Genetics and Metabolism

26 August 2017

1 reference

26 August 2017

105

1 reference

26 August 2017

163-172

1 reference

26 August 2017

2

1 reference

Clinical spectrum and diagnosis of mitochondrial disorders

26 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Energy converting NADH:quinone oxidoreductase (complex I).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Bovine complex I is a complex of 45 different subunits.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Mitochondrial complex I: structure, function and pathology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

The proton pumping stoichiometry of purified mitochondrial complex I reconstituted into proteoliposomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Functional modules and structural basis of conformational coupling in mitochondrial complex I.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Mitochondrial disorders: prevalence, myths and advances.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Structure of the hydrophilic domain of respiratory complex I from Thermus thermophilus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

The architecture of respiratory complex I

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Architecture of complex I and its implications for electron transfer and proton pumping.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Quinone binding and reduction by respiratory complex I.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Phosphorylation pattern of the NDUFS4 subunit of complex I of the mammalian respiratory chain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

GRIM-19, a cell death regulatory protein, is essential for assembly and function of mitochondrial complex I

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Somatic and germline mutation in GRIM-19, a dual function gene involved in mitochondrial metabolism and cell death, is linked to mitochondrion-rich (Hurthle cell) tumours of the thyroid.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Complex I binding by a virally encoded RNA regulates mitochondria-induced cell death

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

GRIM-19 is essential for maintenance of mitochondrial membrane potential

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Function of mitochondrial Stat3 in cellular respiration

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Overexpression of GRIM-19 in cancer cells suppresses STAT3-mediated signal transduction and cancer growth

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Resolution of the Membrane Domain of Bovine Complex I into Subcomplexes: Implications for the Structural Organization of the Enzyme

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Early-Onset Ophthalmoplegia in Leigh-Like Syndrome Due to NDUFV1 Mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Clinical and molecular findings in children with complex I deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Siblings with leukoencephalopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Processing of the 24 kDa subunit mitochondrial import signal is not required for assembly of functional complex I in Yarrowia lipolytica.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

NDUFA2 complex I mutation leads to Leigh disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

The NDUFA1 gene product (MWFE protein) is essential for activity of complex I in mammalian mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

Next generation sequence analysis for mitochondrial disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.188

10.1016/J.YMGME.2011.11.188

7 January 2021

Identifiers

DOI

1 reference

26 August 2017

1 reference