(Q28579972)

English

Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene

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scholarly article

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PubMed publication ID

31 January 2017

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22535952%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene (English)

2 references

PubMed publication ID

31 January 2017

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22535952%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

1 reference

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inferred from title

Matthew McKenzie

5

1 reference

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30 January 2020

10

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30 January 2020

William R Heath

11

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30 January 2020

Anne Kathrin Voss

12

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30 January 2020

René P. Zahedi

13

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30 January 2020

15

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30 January 2020

Albert Sickmann

16

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30 January 2020

17

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30 January 2020

18

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30 January 2020

19

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30 January 2020

Hamish S. Scott

20

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30 January 2020

9

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Sarah A Kinkel

1 reference

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30 January 2020

Adrienne Laskowski

8

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Adrienne Laskowski

2 references

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31 January 2017

Europe PubMed Central

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30 January 2020

2

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Jasper C Komen

1 reference

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30 January 2020

author name string

Melanie Bahlo

7

2 references

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31 January 2017

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30 January 2020

Dillon W Leong

1

1 reference

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30 January 2020

Chelsee A Hewitt

3

1 reference

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30 January 2020

Estelle Arnaud

4

1 reference

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30 January 2020

Belinda Phipson

6

1 reference

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30 January 2020

James J Pitt

14

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30 January 2020

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publication date

25 April 2012

1 reference

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30 January 2020

Journal of Biological Chemistry

2 references

PubMed publication ID

31 January 2017

Europe PubMed Central

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30 January 2020

287

2 references

PubMed publication ID

31 January 2017

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22535952%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

24

2 references

PubMed publication ID

31 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22535952%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

20652-20663

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22535952%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

17 March 2017

Mitochondrial disorders in the nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

17 March 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=3370248

17 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

17 March 2017

The nonsense-mediated decay RNA surveillance pathway

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

17 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

6 April 2017

Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

17 March 2017

Linear models and empirical bayes methods for assessing differential expression in microarray experiments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

17 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

17 March 2017

Treatment for mitochondrial disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

17 March 2017

Evolving gene/transcript definitions significantly alter the interpretation of GeneChip data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

17 March 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=3370248

17 March 2017

Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

17 March 2017

Premature ageing in mice expressing defective mitochondrial DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

17 March 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=3370248

17 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

17 March 2017

Exploration, normalization, and summaries of high density oligonucleotide array probe level data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

17 March 2017

Insertion and assembly of human tom7 into the preprotein translocase complex of the outer mitochondrial membrane

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

17 March 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=3370248

17 March 2017

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

17 March 2017

The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

17 March 2017

The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

17 March 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=3370248

17 March 2017

Large-scale analysis of the human and mouse transcriptomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

7 April 2017

Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

7 April 2017

LINE-mediated retrotransposition of marked Alu sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

7 April 2017

Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

9 May 2017

Brain energy metabolism: focus on astrocyte-neuron metabolic cooperation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

29 September 2017

The molecular basis of 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=3370248

29 September 2017

ROAST: rotation gene set tests for complex microarray experiments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

29 September 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=3370248

29 September 2017

Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

29 September 2017

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

29 September 2017

Heterogeneity of nervous system mitochondria: location, location, location!

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

29 September 2017

NDUFS4: creation of a mouse model mimicking a Complex I disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

29 September 2017

Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

29 September 2017

Silver- and Coomassie-staining protocols: detection limits and compatibility with ESI MS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

29 September 2017

Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

29 September 2017

Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

29 September 2017

Muscle-specific loss of apoptosis-inducing factor leads to mitochondrial dysfunction, skeletal muscle atrophy, and dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

29 September 2017

Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

29 September 2017

Retrotransposon-derived elements in the mammalian genome: a potential source of disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

29 September 2017

The harlequin mouse mutation downregulates apoptosis-inducing factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

29 September 2017

Isolation and subfractionation of mitochondria from animal cells and tissue culture lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

29 September 2017

Skin manifestations of a patient with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

29 September 2017

Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

29 September 2017

Constitutive class I-restricted exogenous presentation of self antigens in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

29 September 2017

Loss of apoptosis-inducing factor results in cell-type-specific neurogenesis defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

3 June 2018

Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

3 June 2018

Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370248

3 June 2018

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.327601

21 January 2018

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.327601

21 January 2018

Targeted deletion of AIF decreases mitochondrial oxidative phosphorylation and protects from obesity and diabetes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.327601

21 January 2018

Permutation P-values should never be zero: calculating exact P-values when permutations are randomly drawn.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.327601

21 January 2018

Analysis of mitochondrial subunit assembly into respiratory chain complexes using Blue Native polyacrylamide gel electrophoresis.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.327601

21 January 2018

Isolation of mitochondria from rat brain using Percoll density gradient centrifugation.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.327601

21 January 2018

Characterization of a mutagenic B1 retrotransposon insertion in the jittery mouse

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.327601

21 January 2018

The first reported case of Menkes disease caused by an Alu insertion mutation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.327601

21 January 2018

Targeting of human retrotransposon integration is directed by the specificity of the L1 endonuclease for regions of unusual DNA structure.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.327601

21 January 2018

Energy thresholds in brain mitochondria. Potential involvement in neurodegeneration.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.327601

21 January 2018

A prognostic index as diagnostic strategy in children suspected of mitochondriocytopathy.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.327601

21 January 2018

Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox".

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.327601

21 January 2018

Normal Serum Alanine Concentration Differentiates Transient Neonatal Lactic Acidemia from an Inborn Error of Energy Metabolism

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.327601

21 January 2018

Hypertrichosis in patients with SURF1 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/22535952

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/22535952

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hair anomalies as a sign of mitochondrial disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22535952

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

L1-mediated retrotransposition of murine B1 and B2 SINEs recapitulated in cultured cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/22535952

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hair and Skin Disorders as Signs of Mitochondrial Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22535952

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22535952

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts: application to mitochondrial encephalomyopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/22535952

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1074/JBC.M111.327601

2 references

PubMed publication ID

31 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22535952%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22535952%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

PubMed publication ID

2 references

PubMed publication ID

31 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22535952%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

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