Article
iPSC-Derived Neurons from Patients with POLG Mutations Exhibit Decreased Mitochondrial Content and Dendrite Simplification.
The American journal of pathology - 1 Feb 2023
Verma Manish, Francis Lily, Lizama Britney N, Callio Jason, Fricklas Gabriella, Wang Kent Z Q, Kaufman Brett A, D'Aiuto Leonardo, Stolz Donna B, Watkins Simon C, Nimgaonkar Vishwajit L, Soto-Gutierrez Alejandro, Goldstein Amy, Chu Charleen T
Abstract excerpt
Mutations in POLG, the gene encoding the catalytic subunit of DNA polymerase gamma, result in clinical syndromes characterized by mitochondrial DNA (mtDNA) depletion in affected tissues with variable organ involvement. The brain is one of the most affected organs, and symptoms include intractable seizures, developmental delay, dementia, and ataxia. Patient-derived induced pluripotent stem cells (iPSCs) provide...
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