(Q24313044)

English

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

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scholarly article

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

0 references

NADH:ubiquinone oxidoreductase complex assembly factor 3

1 reference

GOA release 2020-03-11

NADH:ubiquinone oxidoreductase complex assembly factor 4

1 reference

GOA release 2020-03-11

1 reference

based on heuristic

inferred from title

mitochondrial disease

1 reference

based on heuristic

inferred from title

Hanka Venselaar

object named as

Hanka Venselaar

7

author given names

Hanka

author last names

Venselaar

1 reference

PubMed publication ID

19 October 2023

object named as

Ann Saada

1

author given names

Ann

author last names

Saada

1 reference

PubMed publication ID

19 October 2023

Martijn A Huynen

object named as

Martijn A Huynen

12

author given names

Martijn A

author last names

Huynen

1 reference

PubMed publication ID

19 October 2023

Peter H Willems

object named as

Peter H Willems

6

author given names

Peter H

author last names

Willems

1 reference

PubMed publication ID

19 October 2023

Lambert P van den Heuvel

14

object named as

Lambert P van den Heuvel

author given names

Lambert P

author last names

van den Heuvel

1 reference

PubMed publication ID

19 October 2023

Leo G J Nijtmans

15

object named as

Leo G Nijtmans

author given names

Leo G

author last names

Nijtmans

1 reference

PubMed publication ID

19 October 2023

Mordechai Shohat

11

author given names

Mordechai

author last names

Shohat

object named as

Mordechai Shohat

1 reference

PubMed publication ID

19 October 2023

author name string

Rutger O Vogel

2

author given names

Rutger O

author last names

Vogel

1 reference

PubMed publication ID

19 October 2023

Saskia J Hoefs

3

author given names

Saskia J

author last names

Hoefs

1 reference

PubMed publication ID

19 October 2023

Mariël A van den Brand

4

author given names

Mariël A

author last names

van den Brand

1 reference

PubMed publication ID

19 October 2023

Hans J Wessels

5

author given names

Hans J

author last names

Wessels

1 reference

PubMed publication ID

19 October 2023

Avraham Shaag

8

author given names

Avraham

author last names

Shaag

1 reference

PubMed publication ID

19 October 2023

Flora Barghuti

9

author given names

Flora

author last names

Barghuti

1 reference

PubMed publication ID

19 October 2023

Orit Reish

10

author given names

Orit

author last names

Reish

1 reference

PubMed publication ID

19 October 2023

Jan A M Smeitink

13

author given names

Jan A M

author last names

Smeitink

1 reference

PubMed publication ID

19 October 2023

language of work or name

0 references

publication date

June 2009

0 references

American Journal of Human Genetics

0 references

84

0 references

6

0 references

718-27

0 references

STRING 8--a global view on proteins and their functional interactions in 630 organisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

19 March 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=2694978

19 March 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=2694978

19 March 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=2694978

19 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=2694978

19 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=2694978

19 March 2017

Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

19 March 2017

Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

19 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=2694978

19 March 2017

Principles of protein-protein interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

19 March 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=2694978

19 March 2017

Stop and go extraction tips for matrix-assisted laser desorption/ionization, nanoelectrospray, and LC/MS sample pretreatment in proteomics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

7 April 2017

Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

27 September 2017

Assembly of mitochondrial complex I and defects in disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

27 September 2017

The iron-sulphur protein Ind1 is required for effective complex I assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

27 September 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=2694978

27 September 2017

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

27 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=2694978

27 September 2017

Human mitochondrial complex I assembly is mediated by NDUFAF1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

27 September 2017

AIF deficiency compromises oxidative phosphorylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

27 September 2017

Making optimal use of empirical energy functions: force-field parameterization in crystal space

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

27 September 2017

Mitochondrial disorders: prevalence, myths and advances.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

27 September 2017

Blue Native electrophoresis to study mitochondrial and other protein complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

27 September 2017

The genetics and pathology of oxidative phosphorylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

27 September 2017

Predicting protein function by genomic context: quantitative evaluation and qualitative inferences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

27 September 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=2694978

27 September 2017

Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

30 May 2018

mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

29 November 2018

Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients 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=2694978

29 November 2018

SecDFyajC forms a heterotetrameric complex with YidC.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694978

29 November 2018

Dissecting protein-protein recognition sites

1 reference

https://pubmed.ncbi.nlm.nih.gov/19463981

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/19463981

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2009.04.020

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

release_k235u3bvujdtlczeutq3nav33m

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

0 references

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