Article
POLG genotype influences degree of mitochondrial dysfunction in iPSC derived neural progenitors, but not the parent iPSC or derived glia.
Experimental neurology - 1 Jul 2023
Hong Yu, Kristiansen Cecilie Katrin, Chen Anbin, Nido Gonzalo Sanchez, Høyland Lena Elise, Ziegler Mathias, Sullivan Gareth John, Bindoff Laurence A, Liang Kristina Xiao
Abstract excerpt
Diseases caused by POLG mutations are the most common form of mitochondrial diseases and associated with phenotypes of varying severity. Clinical studies have shown that patients with compound heterozygous POLG mutations have a lower survival rate than patients with homozygous mutations, but the molecular mechanisms behind this remain unexplored. Using an induced pluripotent stem cell (iPSC) model, we investigate...
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