Mutations inCOA3cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

(2014) Sze Chern Lim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations inCOA6cause CytochromecOxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

(2014) Fabian Baertling et al.   HUMAN MUTATION

hCOA3 Stabilizes CytochromecOxidase 1 (COX1) and Promotes CytochromecOxidase Assembly in Human Mitochondria

(2013) Paula Clemente et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SURF1 deficiency: a multi-centre natural history study

(2013) Yehani Wedatilake et al.   Orphanet Journal of Rare Diseases

Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease

(2012) Alessia Indrieri et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

MITRAC Links Mitochondrial Protein Translocation to Respiratory-Chain Assembly and Translational Regulation

(2012) David U. Mick et al.   CELL

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

(2012) Radek Szklarczyk et al.   HUMAN MOLECULAR GENETICS

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

Biomarkers of mitochondrial content in skeletal muscle of healthy young human subjects

(2012) Steen Larsen et al.   JOURNAL OF PHYSIOLOGY-LONDON

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

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

Coa3 and Cox14 are essential for negative feedback regulation ofCOX1translation in mitochondria

(2010) David U. Mick et al.   JOURNAL OF CELL BIOLOGY

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

Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1

(2009) Scot C. Leary et al.   HUMAN MOLECULAR GENETICS

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

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

(2009) Valeria Tiranti et al.   NATURE MEDICINE

FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency

(2008) Daniele Ghezzi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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