A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia

Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis

(2012) Woranontee Weraarpachai et al.   AMERICAN JOURNAL OF HUMAN GENETICS

In Polytomella sp. mitochondria, biogenesis of the heterodimeric COX2 subunit of cytochrome c oxidase requires two different import pathways

(2012) Alejandra Jiménez-Suárez et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

NDUFA4 Is a Subunit of Complex IV of the Mammalian Electron Transport Chain

(2012) Eduardo Balsa et al.   Cell Metabolism

Coiled Coil Domain-containing Protein 56 (CCDC56) Is a Novel Mitochondrial Protein Essential for CytochromecOxidase Function

(2012) Susana Peralta et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation

(2012) Bas F. J. Wanschers et al.   NUCLEIC ACIDS RESEARCH

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase

(2012) Radek Szklarczyk et al.   GENOME BIOLOGY

A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

(2011) Merei Huigsloot et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core

(2011) Ileana C. Soto et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs

(2011) Benedetta Ruzzenente et al.   EMBO JOURNAL

Multiple Roles of the Cox20 Chaperone in Assembly of Saccharomyces cerevisiae Cytochrome c Oxidase

(2011) Leah E. Elliott et al.   GENETICS

Novel insights into the assembly and function of human nuclear-encoded cytochromecoxidase subunits 4, 5a, 6a, 7a and 7b

(2010) Daniela Fornuskova et al.   BIOCHEMICAL JOURNAL

Biochemical diagnosis of mitochondrial disorders

(2010) Richard J. T. Rodenburg   JOURNAL OF INHERITED METABOLIC DISEASE

LRPPRC and SLIRP Interact in a Ribonucleoprotein Complex That Regulates Posttranscriptional Gene Expression in Mitochondria

(2010) Florin Sasarman et al.   MOLECULAR BIOLOGY OF THE CELL

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene

(2009) Eyal Shteyer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

(2009) A. M. Waterhouse et al.   BIOINFORMATICS

Human Dna2 Is a Nuclear and Mitochondrial DNA Maintenance Protein

(2009) J. P. Duxin et al.   MOLECULAR AND CELLULAR BIOLOGY

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

(2009) Woranontee Weraarpachai et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

(2008) Valeria Massa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Electrophoresis techniques to investigate defects in oxidative phosphorylation

(2008) Maria Antonietta Calvaruso et al.   METHODS