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Pathogenic Pathways in Early-Onset Autosomal Recessive Parkinson's Disease Discovered Using Isogenic Human Dopaminergic Neurons.

Stem cell reports - 14 Jan 2020

Ahfeldt Tim, Ordureau Alban, Bell Christina, Sarrafha Lily, Sun Chicheng, Piccinotti Silvia, Grass Tobias, Parfitt Gustavo M, Paulo Joao A, Yanagawa Fumiki, Uozumi Takayuki, Kiyota Yasujiro, Harper J Wade, Rubin Lee L

Abstract excerpt

Parkinson's disease (PD) is a complex and highly variable neurodegenerative disease. Familial PD is caused by mutations in several genes with diverse and mostly unknown functions. It is unclear how dysregulation of these genes results in the relatively selective death of nigral dopaminergic neurons (DNs). To address this question, we modeled PD by knocking out the PD genes PARKIN (PRKN), DJ-1 (PARK7), and ATP13A2...

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Identifiers

PMID: 31902706
DOI: 10.1016/j.stemcr.2019.12.005
PMCID: PMC6962705

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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