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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants.
Rucheton B et al.
Neurology. Genetics, 2021
Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy.
Barcia G et al.
Molecular Genetics and Metabolism Reports, 2019
Mitochondrial Sco proteins are involved in oxidative stress defense.
Ekim Kocabey A et al.
Redox Biology, 2019
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
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
Pacheu-Grau D et al.
Cell Metabolism, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Analysis of reported SCO2 gene mutations affecting cytochrome c oxidase activity in various diseases.
Chadha R et al.
Bioinformation, 2014
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
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
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
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
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