Associated Papers
Protein Transduction Domain-Mediated Delivery of Recombinant Proteins and In Vitro Transcribed mRNAs for Protein Replacement Therapy of Human Severe Genetic Mitochondrial Disorders: The Case of Sco2 Deficiency.
Miliotou AN et al.
Pharmaceutics, 2023
Mitochondrial copper in human genetic disorders.
Garza NM et al.
Trends in Endocrinology and Metabolism: Tem, 2023
Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants.
Rucheton B et al.
Neurology. Genetics, 2021
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.
Rebelo AP et al.
Brain : a Journal of Neurology, 2018
Analysis of reported SCO2 gene mutations affecting cytochrome c oxidase activity in various diseases.
Chadha R et al.
Bioinformation, 2014
The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation.
Pronicka E et al.
Mitochondrion, 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
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
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
Human recombinant mutated forms of the mitochondrial COX assembly Sco2 protein differ from wild-type in physical state and copper binding capacity.
Foltopoulou PF et al.
Molecular Genetics and Metabolism, 2004
Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?
Freisinger P et al.
Journal of Inherited Metabolic Disease, 2004
A role for mitochondrial enzymes in inherited neoplasia and beyond.
Eng C et al.
Nature Reviews. Cancer, 2003
Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.
Jaksch M et al.
Human Molecular Genetics, 2001
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.
Jaksch M et al.
Neurology, 2001
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.
Jaksch M et al.
Human Molecular Genetics, 2000
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