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Article

Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation.

EMBO reports - 4 May 2022

Jabali Ammar, Hoffrichter Anne, Uzquiano Ana, Marsoner Fabio, Wilkens Ruven, Siekmann Marco, Bohl Bettina, Rossetti Andrea C, Horschitz Sandra, Koch Philipp, Francis Fiona, Ladewig Julia

Abstract excerpt

Malformations of human cortical development (MCD) can cause severe disabilities. The lack of human-specific models hampers our understanding of the molecular underpinnings of the intricate processes leading to MCD. Here, we use cerebral organoids derived from patients and genome edited-induced pluripotent stem cells to address pathophysiological changes associated with a complex MCD caused by mutations in the...

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Identifiers

PMID: 35289477
DOI: 10.15252/embr.202154027
PMCID: PMC9066063

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