Human iPSC disease modelling reveals functional and structural defects in retinal pigment epithelial cells harbouring the m.3243A > G mitochondrial DNA mutation

The m.3243A > G mitochondrial DNA mutation was originally described in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. The phenotypic spectrum of the m.3243A > G mutation has since expanded to include a spectrum of neuromuscular and ocular manifestatio...

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Detalles Bibliográficos
Autores principales: Chichagova, Valeria, Hallam, Dean, Collin, Joseph, Buskin, Adriana, Saretzki, Gabriele, Armstrong, Lyle, Yu-Wai-Man, Patrick, Lako, Majlinda, Steel, David H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5615077/
https://www.ncbi.nlm.nih.gov/pubmed/28951556
http://dx.doi.org/10.1038/s41598-017-12396-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5615077/
https://www.ncbi.nlm.nih.gov/pubmed/28951556
http://dx.doi.org/10.1038/s41598-017-12396-2

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