Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions

The Assembly Factor Pet117 Couples Heme a Synthase Activity to Cytochrome Oxidase Assembly

(2016) Nicholas G. Taylor et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Loss of the smallest subunit of cytochromecoxidase, COX8A, causes Leigh-like syndrome and epilepsy

(2015) Kerstin Hallmann et al.   BRAIN

Human mitochondrial COX1 assembly into cytochrome c oxidase at a glance

(2015) S. Dennerlein et al.   JOURNAL OF CELL SCIENCE

Whole exome sequencing of suspected mitochondrial patients in clinical practice

(2015) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2015) Elsebet Ostergaard et al.   JOURNAL OF MEDICAL GENETICS

Mitochondrial disease: genetics and management

(2015) Yi Shiau Ng et al.   JOURNAL OF NEUROLOGY

The subunit composition and function of mammalian cytochrome c oxidase

(2015) Bernhard Kadenbach et al.   MITOCHONDRION

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

(2015) Sarah E. Calvo et al.   NUCLEIC ACIDS RESEARCH

A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth Disease

(2014) Gen Tamiya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

(2014) Monika Oláhová et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

(2014) G Herma Renkema et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

(2014) Ulla Najwa Abdulhag et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations inCOA6cause CytochromecOxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

(2014) Fabian Baertling et al.   HUMAN MUTATION

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

(2014) Robert W. Taylor et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Mitochondrial genetics

(2013) P. F. Chinnery et al.   BRITISH MEDICAL BULLETIN

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation

(2013) Sarah Doss et al.   JOURNAL OF NEUROLOGY

The Heme a Synthase Cox15 Associates with Cytochrome c Oxidase Assembly Intermediates during Cox1 Maturation

(2013) B. Bareth et al.   MOLECULAR AND CELLULAR BIOLOGY

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

(2013) Robert D.S. Pitceathly et al.   Cell Reports

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

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

(2012) Eduardo Balsa et al.   Cell Metabolism

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Human mitochondrial DNA: roles of inherited and somatic mutations

(2012) Eric A. Schon et al.   NATURE REVIEWS GENETICS

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

Biochemical diagnosis of mitochondrial disorders

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

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

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

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