Article
SSBP1 faux pas in mitonuclear tango causes optic neuropathy.
The Journal of clinical investigation - 2 Jan 2020
Zelinger Lina, Swaroop Anand
Abstract excerpt
Mitochondrial dysfunction or loss is evident in neurodegenerative diseases. Furthermore, mitochondrial DNA (mtDNA) mutations associated with NADH dehydrogenase subunits and nuclear gene mutations that affect mitochondrial function result in optic neuropathies. In this issue of the JCI, Del Dotto et al. and Piro-Mégy et al. identify heterozygous mutations in nuclear-encoded mitochondrial single-strand binding...
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