Open access
Oct 2026
Small molecules rescue pathogenic POLGA aggregation and restore its functions in a mouse model of PEO.
POLGA, the catalytic subunit of the mitochondrial DNA polymerase, is essential for mitochondrial DNA (mtDNA) replication and maintenance. Mutations in POLGA cause progressive external ophthalmoplegia (PEO), but the underlying pathogenic mechanisms remain unclear. Here, we show that the mitochondrial E3 ligase MITOL hyp...
Aftab Mohammed, Tavleen Kaur, Priyanka Panwar et al.
· EMBO Molecular Medicine · 0 citations