(Q37219568)

19 August 2017

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

1 reference

19 August 2017

1 reference

1 reference

Prasanth Potluri

1

1 reference

19 August 2017

Antonio Davila

2

1 reference

19 August 2017

Eduardo Ruiz-Pesini

3

1 reference

19 August 2017

Dan Mishmar

4

1 reference

19 August 2017

Sean O'Hearn

5

1 reference

19 August 2017

Saege Hancock

6

1 reference

19 August 2017

Mariella Simon

7

1 reference

19 August 2017

Immo E Scheffler

8

1 reference

19 August 2017

Douglas C Wallace

9

1 reference

19 August 2017

Vincent Procaccio

10

1 reference

19 August 2017

29 January 2009

1 reference

Molecular Genetics and Metabolism

19 August 2017

1 reference

19 August 2017

96

1 reference

19 August 2017

4

1 reference

19 August 2017

189-195

1 reference

Assembly of mitochondrial complex I and defects in disease

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

An enhanced MITOMAP with a global mtDNA mutational phylogeny

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Projection structure of the membrane domain of Escherichia coli respiratory complex I at 8 A resolution

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Bovine complex I is a complex of 45 different subunits.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Mitochondrial complex I: structure, function and pathology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

The phosphorylation of subunits of complex I from bovine heart mitochondria.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Effects of purifying and adaptive selection on regional variation in human mtDNA.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

A chemical enucleation method for the transfer of mitochondrial DNA to rho(o) cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

The nuclear encoded subunits of complex I from bovine heart mitochondria

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Species-specific and mutant MWFE proteins. Their effect on the assembly of a functional mammalian mitochondrial complex I.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Mitochondrial genetic control of assembly and function of complex I in mammalian cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Molecular genetics of the mammalian NADH-ubiquinone oxidoreductase

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Molecular remedy of complex I defects: rotenone-insensitive internal NADH-quinone oxidoreductase of Saccharomyces cerevisiae mitochondria restores the NADH oxidase activity of complex I-deficient mammalian cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Maternal inheritance of human mitochondrial DNA

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Cytoplasmic inheritance of chloramphenicol resistance in mouse tissue culture cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Sequence analysis of cDNAs for the human and bovine ATP synthase beta subunit: mitochondrial DNA genes sustain seventeen times more mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Cytoplasmic transfer of chloramphenicol resistance in human tissue culture cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Investigations of the potential effects of phosphorylation of the MWFE and ESSS subunits on complex I activity and assembly

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Adaptive selection of mitochondrial complex I subunits during primate radiation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

The role of the ESSS protein in the assembly of a functional and stable mammalian mitochondrial complex I (NADH-ubiquinone oxidoreductase).

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Expression of Rattus norvegicus mtDNA in Mus musculus cells results in multiple respiratory chain defects

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

High resolution clear native electrophoresis for in-gel functional assays and fluorescence studies of membrane protein complexes.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Mitochondrial DNA 3644T-->C mutation associated with bipolar disorder

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2693342

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

3 September 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.004

Human xenomitochondrial cybrids. Cellular models of mitochondrial complex I deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.004

Molecular genetics of complex I-deficient Chinese hamster cell lines

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.004

Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.004

Titrating the effects of mitochondrial complex I impairment in the cell physiology

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19185523

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2008.12.004

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

19185523

1 reference