(Q36203487)

English

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

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2 February 2020

2 references

6 November 2020

4 May 2021

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases (English)

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2 February 2020

mitochondrial disease

7 references

24 March 2019

20 June 2019

30 June 2019

14 September 2019

12 October 2019

6 November 2020

4 May 2021

genetic variation

1 reference

14 September 2019

1 reference

12 October 2019

1 reference

6 November 2020

1 reference

4 May 2021

1 reference

based on heuristic

inferred from title

Richard J Rodenburg

2

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2 February 2020

Miguel Angel Martín

9

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Simon Edvardson

12

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Vincent Procaccio

13

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author name string

S Koene

1

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M S van der Knaap

3

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M A A P Willemsen

4

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W Sperl

5

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V Laugel

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E Ostergaard

7

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M Tarnopolsky

8

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V Nesbitt

10

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J Fletcher

11

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2 February 2020

A Slama

14

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L P W J van den Heuvel

15

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J A M Smeitink

16

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publication date

30 May 2012

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2 February 2020

1 September 2012

2 references

6 November 2020

4 May 2021

number of pages

11

1 reference

based on heuristic

inferred from page(s)

Journal of Inherited Metabolic Disease

8 references

24 March 2019

20 June 2019

30 June 2019

14 September 2019

12 October 2019

Europe PubMed Central

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2 February 2020

6 November 2020

4 May 2021

35

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2 February 2020

737-747

1 reference

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2 February 2020

5

1 reference

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2 February 2020

copyright license

Creative Commons Attribution 4.0 International

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copyright status

0 references

https://scigraph.springernature.com/pub.10.1007/s10545-012-9492-z

0 references

Monogenic mitochondrial disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

The molecular basis of human complex I deficiency.

1 reference

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1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

A scaffold of accessory subunits links the peripheral arm and the distal proton-pumping module of mitochondrial complex I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

A neurological perspective on mitochondrial disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

Assembly factors of human mitochondrial complex I and their defects in disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

The architecture of respiratory complex I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

The structure of eukaryotic and prokaryotic complex I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

Leigh and Leigh-like syndrome in children and adults

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

A mitochondrial protein compendium elucidates complex I disease biology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

NDUFA2 complex I mutation leads to Leigh disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

C6ORF66 is an assembly factor of mitochondrial complex I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

Human mitochondrial complex I assembly: a dynamic and versatile process

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

A scale to monitor progression and treatment of mitochondrial disease in children.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

Bovine complex I is a complex of 45 different subunits.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

Mitochondrial complex I: structure, function and pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

Energy converting NADH:quinone oxidoreductase (complex I).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

Subacute necrotizing encephalomyelopathy in an infant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

2 July 2018

A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

22 September 2018

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

22 September 2018

Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

22 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

22 September 2018

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

22 September 2018

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

22 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

22 September 2018

Siblings with leukoencephalopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

22 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

22 September 2018

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

22 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

22 September 2018

Clinical and molecular findings in children with complex I deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

22 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

22 September 2018

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3432203

22 September 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9492-Z

21 January 2018

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9492-Z

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22644603

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22644603

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human Mn-superoxide dismutase in pulmonary epithelial cells of transgenic mice confers protection from oxygen injury

1 reference

https://pubmed.ncbi.nlm.nih.gov/22644603

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/22644603

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

1 reference

https://pubmed.ncbi.nlm.nih.gov/22644603

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dietary intervention and oxidative phosphorylation capacity

1 reference

https://pubmed.ncbi.nlm.nih.gov/22644603

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The unique neuroradiology of complex I deficiency due to NDUFA12L defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/22644603

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22644603

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10545-012-9492-Z

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22644603%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22644603%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22644603%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

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