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
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.
Barbato A et al.
Endocrine Connections, 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 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
Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.
Leary SC et al.
Human Mutation, 2013
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
Honzik T et al.
Journal of Inherited Metabolic Disease, 2012
Mitochondrial disorders caused by mutations in respiratory chain assembly factors.
Diaz F et al.
Seminars in Fetal & Neonatal Medicine, 2011
Loss of function of Sco1 and its interaction with cytochrome c oxidase.
Stiburek L et al.
American Journal of Physiology. Cell Physiology, 2009
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