Skip to search formSkip to main contentSkip to account menu

NDUFAF6 gene

Known as: MGC40214, CHROMOSOME 8 OPEN READING FRAME 38, C8ORF38 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.
2019
2019
An association study using imputed whole‐genome sequence data identifies novel significant loci for growth‐related traits in a Duroc × Erhualian F2 population
The average daily gain (ADG) and body weight (BW) are very important traits for breeding programs and for the meat production… 
2018
2018
Compound Heterozygous Missense and Deep Intronic Variants in NDUFAF6 Unraveled by Exome Sequencing and mRNA Analysis
Biallelic mutations in NDUFAF6 have been identified as responsible for cases of autosomal recessive Leigh syndrome associated… 
2018
2018
A multi-omics analysis of the regulatory changes induced by miR-223 in a monocyte/macrophage cell line.
2016
2016
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.
Review
2016
Review
2016
The origin of the supernumerary subunits and assembly factors of complex I: A treasure trove of pathway evolution.
2013
2013
Ndufaf5 deficiency in the Dictyostelium model: new roles in autophagy and development
Ndufaf5 is a conserved protein mutated in patients with mitochondrial complex I (CI) disease. A Dictyostelium model lacking… 
Highly Cited
2012
Highly Cited
2012
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
To extend understanding of the genetic architecture and molecular basis of type 2 diabetes (T2D), we conducted a meta-analysis of… 
Highly Cited
2011
Highly Cited
2011
Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1.
Highly Cited
2008
Highly Cited
2008
A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)