Cytochrome c oxidase deficiency

Mutations in FASTKD2 are associated with mitochondrial disease with multi‐OXPHOS deficiency

(2020) Xiujuan Wei et al.   HUMAN MUTATION

A common coupling mechanism for A-type heme-copper oxidases from bacteria to mitochondria

(2020) Amandine Maréchal et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation

(2020) Carola Hedberg-Oldfors et al.   Neurology-Genetics

Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy

(2019) Hongliang Xu et al.   HUMAN GENETICS

LRPPRC: A Multifunctional Protein Involved in Energy Metabolism and Human Disease

(2019) Jie Cui et al.   Frontiers in Physiology

Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures

(2019) Nishitha R. Pillai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

COX6A2 variants cause a muscle‐specific cytochrome c oxidase deficiency

(2019) Michio Inoue et al.   ANNALS OF NEUROLOGY

Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in Drosophila melanogaster

(2019) Michele Brischigliaro et al.   Frontiers in Physiology

COA6 Is Structurally Tuned to Function as a Thiol-Disulfide Oxidoreductase in Copper Delivery to Mitochondrial Cytochrome c Oxidase

(2019) Shivatheja Soma et al.   Cell Reports

Proton pumping by cytochrome c oxidase – A 40 year anniversary

(2018) Mårten Wikström et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy

(2018) Yujiro Higuchi et al.   BRAIN

Structure of the intact 14-subunit human cytochrome c oxidase

(2018) Shuai Zong et al.   CELL RESEARCH

Assembly of mammalian oxidative phosphorylation complexes I–V and supercomplexes

(2018) Alba Signes et al.   Essays in Biochemistry

Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy

(2018) Suvasini Sharma et al.   JOURNAL OF CHILD NEUROLOGY

Mitochondrial cytochrome c oxidase biogenesis: Recent developments

(2018) Alba Timón-Gómez et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Respiratory chain supercomplexes: Structures, function and biogenesis

(2018) Teresa Lobo-Jarne et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

NDUFA4 (Renamed COXFA4) Is a Cytochrome -c Oxidase Subunit

(2018) Robert D.S. Pitceathly et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Tissue-specific regulation of cytochrome c by post-translational modifications: respiration, the mitochondrial membrane potential, ROS, and apoptosis

(2018) Hasini A. Kalpage et al.   FASEB JOURNAL

Atomistic insights into cardiolipin binding sites of cytochrome c oxidase

(2018) Aapo Malkamäki et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

(2018) Alba Signes et al.   EMBO Molecular Medicine

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy

(2018) Maria G. Otero et al.   Annals of Clinical and Translational Neurology

Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia

(2017) Bassam Abu-Libdeh et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2017) G. H. Renkema et al.   HUMAN GENETICS

The mitochondrial metallochaperone SCO1 maintains CTR1 at the plasma membrane to preserve copper homeostasis in the murine heart

(2017) Zakery N Baker et al.   HUMAN MOLECULAR GENETICS

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

(2017) Fabian Baertling et al.   HUMAN MUTATION

Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome

(2017) Da Hye Yoo et al.   MITOCHONDRION

Tissue- and Condition-Specific Isoforms of Mammalian Cytochrome c Oxidase Subunits: From Function to Human Disease

(2017) Christopher A. Sinkler et al.   Oxidative Medicine and Cellular Longevity

Insights into functions of the H channel of cytochromecoxidase from atomistic molecular dynamics simulations

(2017) Vivek Sharma et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase

(2017) Sara Vidoni et al.   Cell Reports

Maintenance and Expression of Mammalian Mitochondrial DNA

(2016) Claes M. Gustafsson et al.   Annual Review of Biochemistry

Structure of Mammalian Respiratory Supercomplex I 1 III 2 IV 1

(2016) Meng Wu et al.   CELL

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

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

COA7(C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

(2016) Anabel Martinez Lyons et al.   JOURNAL OF MEDICAL GENETICS

The architecture of respiratory supercomplexes

(2016) James A. Letts et al.   NATURE

The architecture of the mammalian respirasome

(2016) Jinke Gu et al.   NATURE

Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice

(2016) Tara R. Richman et al.   Nature Communications

A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease

(2016) Johanna H.K. Kauppila et al.   Cell Reports

A mitochondrial DNA hypomorph of cytochrome oxidase specifically impairs male fertility in Drosophila melanogaster

(2016) Maulik R Patel et al.   eLife

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

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

(2015) Kerstin Hallmann et al.   BRAIN

LRPPRCmutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

(2015) Monika Oláhová et al.   BRAIN

Cooperation between COA6 and SCO2 in COX2 Maturation during Cytochrome c Oxidase Assembly Links Two Mitochondrial Cardiomyopathies

(2015) David Pacheu-Grau et al.   Cell Metabolism

COX6A1mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report

(2015) P. Laššuthová et al.   CLINICAL GENETICS

Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy

(2015) Diana Lehmann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cardiac deficiency of single cytochrome oxidase assembly factor scox induces p53-dependent apoptosis in a Drosophila cardiomyopathy model

(2015) Leticia Martínez-Morentin et al.   HUMAN MOLECULAR GENETICS

COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2

(2015) David A. Stroud et al.   HUMAN MOLECULAR GENETICS

The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease

(2015) James B. Stewart et al.   NATURE REVIEWS GENETICS

FASTKD2 is an RNA-binding protein required for mitochondrial RNA processing and translation

(2015) Johannes Popow et al.   RNA

The Mitochondrial Metallochaperone SCO1 Is Required to Sustain Expression of the High-Affinity Copper Transporter CTR1 and Preserve Copper Homeostasis

(2015) Christopher J. Hlynialuk et al.   Cell Reports

Mitochondrial RNA Granules Are Centers for Posttranscriptional RNA Processing and Ribosome Biogenesis

(2015) Hana Antonicka et al.   Cell Reports

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

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

(2014) Laura Melchionda 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

Decrease in cytochromecoxidase reserve capacity diminishes robustness ofDrosophila melanogasterand shortens lifespan

(2014) Vladimir Klichko et al.   BIOCHEMICAL JOURNAL

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

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

Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency

(2014) A. Ghosh et al.   HUMAN MOLECULAR GENETICS

Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase

(2014) Myriam Bourens et al.   HUMAN MOLECULAR GENETICS

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

(2014) Periklis Makrythanasis et al.   HUMAN MUTATION

Leigh Syndrome inDrosophila melanogaster

(2014) Caterina Da-Rè et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Drosophila melanogaster LRPPRC2 is involved in coordination of mitochondrial translation

(2014) Francesca Baggio et al.   NUCLEIC ACIDS RESEARCH

Transmitochondrial mice as models for primary prevention of diseases caused by mutation in the tRNALys gene

(2014) A. Shimizu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Pet309 pentatricopeptide repeat motifs mediate efficient binding to the mitochondrialCOX1transcript in yeast

(2014) Angélica Zamudio-Ochoa et al.   RNA Biology

Stabilization of Cox1p intermediates by the Cox14p-Coa3p complex

(2013) Gavin P. McStay et al.   FEBS LETTERS

Expression of alternative oxidase in Drosophila ameliorates diverse phenotypes due to cytochrome oxidase deficiency

(2013) Kia K. Kemppainen et al.   HUMAN MOLECULAR GENETICS

C1orf163/RESA1 Is a Novel Mitochondrial Intermembrane Space Protein Connected to Respiratory Chain Assembly

(2013) Vera Kozjak-Pavlovic et al.   JOURNAL OF MOLECULAR BIOLOGY

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

(2013) Sarah Doss et al.   JOURNAL OF NEUROLOGY

Functions of the hydrophilic channels in protonmotive cytochrome c oxidase

(2013) P. R. Rich et al.   Journal of the Royal Society Interface

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

(2013) A. Echaniz-Laguna et al.   NEUROLOGY

Yeast PPR proteins, watchdogs of mitochondrial gene expression

(2013) Christopher J Herbert et al.   RNA 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

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

(2012) David U. Mick et al.   CELL

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

(2012) Eduardo Balsa et al.   Cell Metabolism

Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNATrp gene

(2012) Ivo Barić et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cytochrome c oxidase subunit 4 isoform 2-knockout mice show reduced enzyme activity, airway hyporeactivity, and lung pathology

(2012) Maik Hüttemann et al.   FASEB JOURNAL

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

High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency

(2012) Alzbeta Vondrackova et al.   JOURNAL OF HUMAN GENETICS

Deletion of heart-type cytochromecoxidase subunit 7a1 impairs skeletal muscle angiogenesis and oxidative phosphorylation

(2012) Icksoo Lee et al.   JOURNAL OF PHYSIOLOGY-LONDON

Intermembrane Space Proteome of Yeast Mitochondria

(2012) F.-Nora Vögtle et al.   MOLECULAR & CELLULAR PROTEOMICS

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Molecular Dynamics Simulations Reveal Proton Transfer Pathways in Cytochrome C-Dependent Nitric Oxide Reductase

(2012) Andrei V. Pisliakov et al.   PLoS Computational Biology

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

Infantile cardioencephalopathy due to a COX15 gene defect: Report and review

(2011) Majid Alfadhel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

LRPPRC mutation suppresses cytochrome oxidase activity by altering mitochondrial RNA transcript stability in a mouse model

(2011) Fenghao Xu et al.   BIOCHEMICAL JOURNAL

In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1α Axis

(2011) Carlo Viscomi et al.   Cell Metabolism

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

(2011) Benedetta Ruzzenente et al.   EMBO JOURNAL

Seeking the determinants of the elusive functions of Sco proteins

(2011) Lucia Banci et al.   FEBS Journal

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

(2011) Leah E. Elliott et al.   GENETICS

Mice deleted for heart-type cytochrome c oxidase subunit 7a1 develop dilated cardiomyopathy

(2011) Maik Hüttemann et al.   MITOCHONDRION

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

The Bicoid Stability Factor Controls Polyadenylation and Expression of Specific Mitochondrial mRNAs in Drosophila melanogaster

(2011) Ana Bratic et al.   PLoS 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

Cox25 Teams Up with Mss51, Ssc1, and Cox14 to Regulate Mitochondrial CytochromecOxidase Subunit 1 Expression and Assembly inSaccharomyces cerevisiae

(2010) Flavia Fontanesi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Genetic, functional and evolutionary characterization of scox, the Drosophila melanogaster ortholog of the human SCO1 gene

(2010) Damiano Porcelli et al.   MITOCHONDRION

Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNAPhe gene

(2010) G. Zsurka et al.   NEUROLOGY

Clinical and neuropathological findings in patients with TACO1 mutations

(2010) Jürgen Seeger et al.   NEUROMUSCULAR DISORDERS

Interheme electron tunneling in cytochrome c oxidase

(2010) V. R. I. Kaila et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Comparative study of human mitochondrial proteome reveals extensive protein subcellular relocalization after gene duplications

(2009) Xiujuan Wang et al.   BMC EVOLUTIONARY BIOLOGY

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

(2009) R. Horvath et al.   BRAIN

Functional consequences of mitochondrial tRNATrp and tRNAArg mutations causing combined OXPHOS defects

(2009) Paulien Smits et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2

(2009) Hua Yang et al.   HUMAN MOLECULAR 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

Formation of the Redox Cofactor Centers during Cox1 Maturation in Yeast Cytochrome Oxidase

(2009) O. Khalimonchuk 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

Genome-wide deletion mutant analysis reveals genes required for respiratory growth, mitochondrial genome maintenance and mitochondrial protein synthesis in Saccharomyces cerevisiae

(2009) Sandra Merz et al.   GENOME BIOLOGY

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

Pet191 Is a CytochromecOxidase Assembly Factor inSaccharomyces cerevisiae

(2008) Oleh Khalimonchuk et al.   EUKARYOTIC CELL

A functionally dominant mitochondrial DNA mutation

(2008) S. Sacconi et al.   HUMAN MOLECULAR GENETICS

Cytochromecoxidase biogenesis: New levels of regulation

(2008) Flavia Fontanesi et al.   IUBMB LIFE