Article
Mitochondrial disorders due to nuclear OXPHOS gene defects.
Advances in experimental medicine and biology - 1 Jan 2009
Ugalde Cristina, Morán María, Blázquez Alberto, Arenas Joaquín, Martín Miguel A
Abstract excerpt
Because of the bi-genomic origin of the OXPHOS system, mitochondrial disease-associated mutations have been found in both mtDNA and nuclear structural genes. In the last years, interest has shifted toward mendelian genetics in mitochondrial disease, not only because the majority of the OXPHOS system subunits are encoded by the nuclear genome, but also because a large number of yet unknown nuclear proteins, such...
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