Associated Papers
Development of a novel PTD-mediated IVT-mRNA delivery platform for potential protein replacement therapy of metabolic/genetic disorders.
Miliotou AN et al.
Molecular Therapy. Nucleic Acids, 2021
34703653 (PubMed )
Supplement: mmc2.pdf
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 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
Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.
Torraco A et al.
Mitochondrion, 2015
NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease.
Cerutti R et al.
Cell Metabolism, 2014
24814483 (PubMed )
Supplement: mmc2.pdf
Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review.
Gurgel-Giannetti J et al.
Jama Neurology, 2013
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
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.
Jaksch M et al.
Neurology, 2001
Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start?
Sue CM et al.
Brain Pathology (zurich, Switzerland), 2000
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