Mitochondrial copper in human genetic disorders

Copper induces cell death by targeting lipoylated TCA cycle proteins

(2022) Peter Tsvetkov et al.   SCIENCE

Prime Real Estate: Metals, Cofactors and MICOS

(2022) Amy E. Medlock et al.   Frontiers in Cell and Developmental Biology

Elesclomol elevates cellular and mitochondrial iron levels by delivering copper to the iron import machinery

(2022) Natalie M. Garza et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Coordination of metal center biogenesis in human cytochrome c oxidase

(2022) Eva Nývltová et al.   Nature Communications

A yeast suppressor screen links Coa4 to the mitochondrial copper delivery pathway for cytochrome c oxidase

(2022) Abhinav B Swaminathan et al.   GENETICS

Oxidation state-specific fluorescent copper sensors reveal oncogene-driven redox changes that regulate labile copper(II) pools

(2022) Aidan T. Pezacki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Systemic deletion of Atp7b modifies the hepatocytes’ response to copper overload in the mouse models of Wilson disease

(2021) Abigael Muchenditsi et al.   Scientific Reports

Mitochondrial copper and phosphate transporter specificity was defined early in the evolution of eukaryotes

(2021) Xinyu Zhu et al.   eLife

Low-molecular-mass labile metal pools in Escherichia coli: advances using chromatography and mass spectrometry

(2021) Hayley N. Brawley et al.   JOURNAL OF BIOLOGICAL INORGANIC CHEMISTRY

On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models

(2021) Melissa A. Walker et al.   CURRENT OPINION IN NEUROBIOLOGY

Metallothionein immunohistochemistry has high sensitivity and specificity for detection of Wilson disease

(2021) Daniel J. Rowan et al.   MODERN PATHOLOGY

Current Biomedical Use of Copper Chelation Therapy

(2020) Silvia Baldari et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

COA6 Facilitates Cytochrome c Oxidase Biogenesis as Thiol-reductase for Copper Metallochaperones in Mitochondria

(2020) David Pacheu-Grau et al.   JOURNAL OF MOLECULAR BIOLOGY

Advances in visualization of copper in mammalian systems using X-ray fluorescence microscopy

(2020) Scot C. Leary et al.   CURRENT OPINION IN CHEMICAL BIOLOGY

Elesclomol alleviates Menkes pathology and mortality by escorting Cu to cuproenzymes in mice

(2020) Liam M. Guthrie et al.   SCIENCE

Metallothioneins regulate ATP7A trafficking and control cell viability during copper deficiency and excess

(2020) Nikita Gudekar et al.   Scientific Reports

The histone H3-H4 tetramer is a copper reductase enzyme

(2020) Narsis Attar et al.   SCIENCE

Repurposing elesclomol, an investigational drug for the treatment of copper metabolism disorders

(2020) Vishal M. Gohil   EXPERT OPINION ON INVESTIGATIONAL DRUGS

mtDNA depletion‐like syndrome in Wilson disease

(2020) Valentina Medici et al.   LIVER INTERNATIONAL

Mitochondrial metabolism promotes adaptation to proteotoxic stress

(2019) Peter Tsvetkov et al.   Nature Chemical Biology

Emerging Opportunities To Manipulate Metal Trafficking for Therapeutic Benefit

(2019) Elizabeth W. Hunsaker et al.   INORGANIC CHEMISTRY

Clinical manifestations of Wilson disease in organs other than the liver and brain

(2019) Karolina Dzieżyc-Jaworska et al.   Annals of Translational Medicine

Redox active metals in neurodegenerative diseases

(2019) Karla Acevedo et al.   JOURNAL OF BIOLOGICAL INORGANIC CHEMISTRY

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

Metallothionein is elevated in liver and duodenum of Atp7b(−/−) mice

(2018) Chengcheng Christine Zhang et al.   BIOMETALS

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

(2018) Adriana P Rebelo et al.   BRAIN

Mitochondrial copper homeostasis and its derailment in Wilson disease

(2018) Hans Zischka et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

In vitroreconstitution, functional dissection, and mutational analysis of metal ion transport by mitoferrin-1

(2018) Eric T. Christenson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mitochondrial cytochrome c oxidase biogenesis: Recent developments

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

MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features

(2018) Faruk Incecik et al.   METABOLIC BRAIN DISEASE

Elesclomol restores mitochondrial function in genetic models of copper deficiency

(2018) Shivatheja Soma et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Wilson disease

(2018) Anna Członkowska et al.   Nature Reviews Disease Primers

Activation of autophagy, observed in liver tissues from patients with Wilson disease and from Atp7b-deficient animals, protects hepatocytes from copper-induced apoptosis

(2018) Elena V. Polishchuk et al.   GASTROENTEROLOGY

Chelating principles in Menkes and Wilson diseases

(2018) Nina Horn et al.   JOURNAL OF INORGANIC BIOCHEMISTRY

The mammalian phosphate carrier SLC25A3 is a mitochondrial copper transporter required for cytochromecoxidase biogenesis

(2017) Aren Boulet et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Eukaryotic copper-only superoxide dismutases (SODs): A new class of SOD enzymes and SOD-like protein domains

(2017) Natalie G. Robinett et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The mitochondrion: a central architect of copper homeostasis

(2017) Zakery N. Baker et al.   Metallomics

The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria

(2016) Ashima Bhattacharjee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Methanobactin reverses acute liver failure in a rat model of Wilson disease

(2016) Josef Lichtmannegger et al.   JOURNAL OF CLINICAL INVESTIGATION

Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1

(2016) Shwetha Chiplunkar et al.   METABOLIC BRAIN DISEASE

Ceruloplasmin and other copper binding components of blood plasma and their functions: an update

(2016) M. C. Linder   Metallomics

Copper delivery to the CNS by CuATSM effectively treats motor neuron disease in SODG93A mice co-expressing the Copper-Chaperone-for-SOD

(2016) Jared R. Williams et al.   NEUROBIOLOGY OF DISEASE

Overlap of copper and iron uptake systems in mitochondria inSaccharomyces cerevisiae

(2016) Katherine E. Vest et al.   Open Biology

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

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

Redox-regulated dynamic interplay between Cox19 and the copper-binding protein Cox11 in the intermembrane space of mitochondria facilitates biogenesis of cytochrome c oxidase

(2015) Manuela Bode et al.   MOLECULAR BIOLOGY OF THE CELL

Loop recognition and copper-mediated disulfide reduction underpin metal site assembly of CuAin human cytochrome oxidase

(2015) Marcos N. Morgada et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis

(2015) Francesco Tafuri et al.   Frontiers in Cellular Neuroscience

Pathological mitochondrial copper overload in livers of Wilson's disease patients and related animal models

(2014) Hans Zischka et al.   Annals of the New York Academy of Sciences

Mutations inCOA6cause CytochromecOxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

(2014) Fabian Baertling et al.   HUMAN MUTATION

Subcellular metal imaging identifies dynamic sites of Cu accumulation in Chlamydomonas

(2014) Anne Hong-Hermesdorf et al.   Nature Chemical Biology

Mia40 targets cysteines in a hydrophobic environment to direct oxidative protein folding in the mitochondria

(2014) Johanna R. Koch et al.   Nature Communications

Increasing Intracellular Bioavailable Copper Selectively Targets Prostate Cancer Cells

(2013) Michael A. Cater et al.   ACS Chemical Biology

Cellular glutathione plays a key role in copper uptake mediated by human copper transporter 1

(2013) Edward B. Maryon et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Syntheses and antitumor activities of N′1,N′3-dialkyl-N′1,N′3-di-(alkylcarbonothioyl) malonohydrazide: The discovery of elesclomol

(2013) Shoujun Chen et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

(2013) Diego Martinelli et al.   BRAIN

Novel Mutations inSCO1as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis

(2013) Scot C. Leary et al.   HUMAN MUTATION

Copper Import into the Mitochondrial Matrix in Saccharomyces cerevisiae Is Mediated by Pic2, a Mitochondrial Carrier Family Protein

(2013) Katherine E. Vest et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype–phenotype correlation

(2013) Ewa Pronicka et al.   MITOCHONDRION

Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

(2012) Peter Huppke et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evolution of Copper Transporting ATPases in Eukaryotic Organisms

(2012) Arnab Gupta et al.   CURRENT GENOMICS

The hypoxia imaging agent Cu II (atsm) is neuroprotective and improves motor and cognitive functions in multiple animal models of Parkinson’s disease

(2012) Lin W. Hung et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Effects of disulfiram treatment in patients with Menkes disease and occipital horn syndrome

(2012) Eishin Ogawa et al.   JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY

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

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

A Targetable Fluorescent Sensor Reveals That Copper-DeficientSCO1andSCO2Patient Cells Prioritize Mitochondrial Copper Homeostasis

(2011) Sheel C. Dodani et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Copper complexes as therapeutic agents

(2011) Clare Duncan et al.   Metallomics

Copper Metallochaperones

(2010) Nigel J. Robinson et al.   Annual Review of Biochemistry

Menkes Kinky Hair Disease with ‘Ragged Red’ Fibers

(2010) Susan Morgello et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

An Exposure-Response Curve for Copper Excess and Deficiency

(2010) Andrea Chambers et al.   JOURNAL OF TOXICOLOGY AND ENVIRONMENTAL HEALTH-PART B-CRITICAL REVIEWS

Copper handling machinery of the brain

(2010) Svetlana Lutsenko et al.   Metallomics

Affinity gradients drive copper to cellular destinations

(2010) Lucia Banci et al.   NATURE

Loss of function of Sco1 and its interaction with cytochrome c oxidase

(2009) Lukas Stiburek et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Menkes disease

(2009) Zeynep Tümer et al.   EUROPEAN 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

Systematic Analysis of the Twin Cx9C Protein Family

(2009) Sebastian Longen et al.   JOURNAL OF MOLECULAR BIOLOGY

Increasing Cu bioavailability inhibits A  oligomers and tau phosphorylation

(2009) P. J. Crouch et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phenotypic consequences of a novelSCO2gene mutation

(2008) Rob M. Verdijk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Dcytb (Cybrd1) functions as both a ferric and a cupric reductase in vitro

(2008) Steven Wyman et al.   FEBS LETTERS

Mechanisms for copper acquisition, distribution and regulation

(2008) Byung-Eun Kim et al.   Nature Chemical Biology

Neonatal Diagnosis and Treatment of Menkes Disease

(2008) Stephen G. Kaler et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mitochondrial structure and function in the untreated Jackson toxic milk (tx-j) mouse, a model for Wilson disease

(2007) Eve A. Roberts et al.   MOLECULAR GENETICS AND METABOLISM