Article

Hallmark molecular and pathological features of POLG disease are recapitulated in cerebral organoids

2023-09-17

Abstract excerpt

In our research, we developed a 3D brain organoid model to study POLG-related encephalopathy, a mitochondrial disease stemming from POLG gene mutations. We utilized induced pluripotent stem cells (iPSCs) derived from patients with these mutations to generate cortical organoids, which exhibited typical POLG disease features, such as altered morphology, neuronal loss, and mtDNA depletion. We also identified signifi...

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Literature Corpus work: de698172-afb8-556f-9da6-a860c52895de
DOI: 10.1101/2023.09.16.558087

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