(Q34327036)

1 August 2017

0 references

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

1 reference

1 August 2017

1

Ronen Spiegel

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author name string

Avraham Shaag

2

1 reference

1 August 2017

Hanna Mandel

3

1 reference

1 August 2017

Dan Reich

4

1 reference

1 August 2017

Marina Penyakov

5

1 reference

1 August 2017

Yasir Hujeirat

6

1 reference

1 August 2017

Ann Saada

7

1 reference

1 August 2017

Orly Elpeleg

8

1 reference

1 August 2017

Stavit A Shalev

9

1 reference

1 August 2017

publication date

4 March 2009

1 reference

European Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

17

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1 August 2017

issue

9

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1 August 2017

page(s)

1200-1203

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A mitochondrial protein compendium elucidates complex I disease biology

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

C6ORF66 is an assembly factor of mitochondrial complex I

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

Mitochondrial complex I: structure, function and pathology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

Three-dimensional structure of bovine NADH:ubiquinone oxidoreductase (complex I) at 22 A in ice.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986593

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.24

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.24

21 January 2018

Identifiers

DOI

10.1038/EJHG.2009.24

1 reference

1 August 2017

1 reference

1 August 2017

1 reference