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
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
23345593 (PubMed )
Supplement: supp_E12-09-0705v1_CombinedSupMats.pdf
Phenotypic consequences of a novel SCO2 gene mutation.
Verdijk RM et al.
American Journal of Medical Genetics. Part A, 2008
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