Article
Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene.
Acta neuropathologica communications - 16 Dec 2019
Chumarina Margarita, Russ Kaspar, Azevedo Carla, Heuer Andreas, Pihl Maria, Collin Anna, Frostner Eleonor Åsander, Elmer Eskil, Hyttel Poul, Cappelletti Graziella, Zini Michela, Goldwurm Stefano, Roybon Laurent
Abstract excerpt
Variations in the POLG1 gene encoding the catalytic subunit of the mitochondrial DNA polymerase gamma, have recently been associated with Parkinson's disease (PD), especially in patients diagnosed with progressive external ophthalmoplegia (PEO). However, the majority of the studies reporting this association mainly focused on the genetic identification of the variation in POLG1 in PD patient primary cells, and...
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