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Article

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

Science advances - 1 Feb 2021

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

Abstract excerpt

Loss-of-function mutations of DNAJC6, 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 DNAJC6 mutations cause key PD pathologic features, i.e., midbrain-type dopamine (mDA) neuron degeneration, pathologic...

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Identifiers

PMID: 33597231
DOI: 10.1126/sciadv.abb1540
PMCID: PMC7888924

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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