Associated Papers
Heart is the most susceptible organ in an isogenic background to loss of function mutations in the mitochondrial metallochaperone SCO1.
Ghosh S et al.
Human Molecular Genetics, 2025
Lymphopoiesis is attenuated upon hepatocyte-specific deletion of the cytochrome c oxidase assembly factor Sco1.
Pioli KT et al.
Iscience, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Primary mitochondrial diseases: The intertwined pathophysiology of bioenergetic dysregulation, oxidative stress and neuroinflammation.
Aguilar K et al.
European Journal of Clinical Investigation, 2024
More than Just Bread and Wine: Using Yeast to Understand Inherited Cytochrome Oxidase Deficiencies in Humans.
Caron-Godon CA et al.
International Journal of Molecular Sciences, 2024
Mitochondrial COA7 is a heme-binding protein with disulfide reductase activity, which acts in the early stages of complex IV assembly.
Formosa LE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
COA6 Is Structurally Tuned to Function as a Thiol-Disulfide Oxidoreductase in Copper Delivery to Mitochondrial Cytochrome c Oxidase.
Soma S et al.
Cell Reports, 2019
Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene.
Brix N et al.
Neonatology, 2019
COX16 promotes COX2 metallation and assembly during respiratory complex IV biogenesis.
Aich A et al.
Elife, 2018
The mitochondrial metallochaperone SCO1 maintains CTR1 at the plasma membrane to preserve copper homeostasis in the murine heart.
Baker ZN et al.
Human Molecular Genetics, 2017
Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.
Bourens M et al.
Human Molecular Genetics, 2014
Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.
Leary SC et al.
Human Mutation, 2013
COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux.
Leary SC et al.
Molecular Biology of the Cell, 2013
Infantile mitochondrial encephalopathy.
Uziel G et al.
Seminars in Fetal & Neonatal Medicine, 2011
Mitochondrial disorders caused by mutations in respiratory chain assembly factors.
Diaz F et al.
Seminars in Fetal & Neonatal Medicine, 2011
Genetic, functional and evolutionary characterization of scox, the Drosophila melanogaster ortholog of the human SCO1 gene.
Porcelli D et al.
Mitochondrion, 2010
Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.
Leary SC et al.
Human Molecular Genetics, 2009
Loss of function of Sco1 and its interaction with cytochrome c oxidase.
Stiburek L et al.
American Journal of Physiology. Cell Physiology, 2009
Mitochondrial hepatopathies: advances in genetics and pathogenesis.
Lee WS et al.
Hepatology (baltimore, Md.), 2007
The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.
Leary SC et al.
Cell Metabolism, 2007
The P174L mutation in human Sco1 severely compromises Cox17-dependent metallation but does not impair copper binding.
Cobine PA et al.
The Journal of Biological Chemistry, 2006
Biogenesis of eukaryotic cytochrome c oxidase.
Stiburek L et al.
Physiological Research, 2006
Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein.
Williams JC et al.
The Journal of Biological Chemistry, 2005
Copper chaperones for cytochrome c oxidase and human disease.
Hamza I et al.
Journal of Bioenergetics and Biomembranes, 2002
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.
Amiel J et al.
Prenatal Diagnosis, 2001
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.
Valnot I et al.
American Journal of Human Genetics, 2000