Neurodevelopmental defects and neurodegenerative phenotypes in human brain organoids carrying Parkinson's disease-linked DNAJC6 mutations

Loss-of-function mutations of , encoding HSP40 auxilin, have recently been identified in patients with early-onset Parkinson's disease (PD). To study the roles of DNAJC6 in PD pathogenesis, we used human embryonic stem cells with CRISPR-Cas9-mediated gene editing. Here, we show that mutations c...

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Veröffentlicht in:	Science advances 2021-02, Vol.7 (8)
Hauptverfasser:	Wulansari, Noviana, Darsono, Wahyu Handoko Wibowo, Woo, Hye-Ji, Chang, Mi-Yoon, Kim, Jinil, Bae, Eun-Jin, Sun, Woong, Lee, Ju-Hyun, Cho, Il-Joo, Shin, Hyogeun, Lee, Seung-Jae, Lee, Sang-Hun
Format:	Artikel
Sprache:	eng
Schlagworte:	HSP40 Heat-Shock Proteins - genetics HSP40 Heat-Shock Proteins - metabolism Humans Mesencephalon Mutation Neuroscience Organoids - metabolism Parkinson Disease - metabolism Phenotype SciAdv r-articles
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