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

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 as...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6916051/
https://www.ncbi.nlm.nih.gov/pubmed/31843010
http://dx.doi.org/10.1186/s40478-019-0863-7

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