Disease‐specific phenotypes in iPSC‐derived neural stem cells with POLG mutations

Mutations in POLG disrupt mtDNA replication and cause devastating diseases often with neurological phenotypes. Defining disease mechanisms has been hampered by limited access to human tissues, particularly neurons. Using patient cells carrying POLG mutations, we generated iPSCs and then neural stem...

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Pubblicato in:EMBO Mol Med
Autori principali: Liang, Kristina Xiao, Kristiansen, Cecilie Katrin, Mostafavi, Sepideh, Vatne, Guro Helén, Zantingh, Gina Alien, Kianian, Atefeh, Tzoulis, Charalampos, Høyland, Lena Elise, Ziegler, Mathias, Perez, Roberto Megias, Furriol, Jessica, Zhang, Zhuoyuan, Balafkan, Novin, Hong, Yu, Siller, Richard, Sullivan, Gareth John, Bindoff, Laurence A
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2020
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Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7539330/
https://ncbi.nlm.nih.gov/pubmed/32840960
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.202012146
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