ArticleEMBO reports2022
Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation.
Article in EMBO reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience.Advanced healthcare materials · 2026Pooled it
- Oriented cell divisions induce basal progenitors and regulate neural expansion across tissues and species.Science advances · 2026Article
- Review
- Capturing disease severity in LIS1-lissencephaly reveals proteostasis dysregulation in patient-derived forebrain organoids.Nature communications · 2025Article
- MSN/STAT3 drives cancer stemness and chemoresistance via IL-6/LPAR1 ligand receptor complex in triple-negative breast cancer.Breast cancer research : BCR · 2025Article
- Loss of Eml1 alters microtubule-associated protein networks in mouse brain heterotopia.Communications biology · 2025Article
- Activation of Wnt/β-catenin signaling is critical for the tumorigenesis of choroid plexus.Neuro-oncology · 2025Article
- Forebrain Eml1 depletion reveals early centrosomal dysfunction causing subcortical heterotopia.The Journal of cell biology · 2024Article
- Article
- Biomechanical instability of the brain-CSF interface in hydrocephalus.Brain : a journal of neurology · 2024Review
- Radial glia progenitor polarity in health and disease.Frontiers in cell and developmental biology · 2024Review
- Gene expression in organoids: an expanding horizon.Biology direct · 2023Review
- Article
- Asteroid impact: the potential of astrocytes to modulate human neural networks within organoids.Frontiers in neuroscience · 2023Review
- Current analysis of hypoxic-ischemic encephalopathy research issues and future treatment modalities.Frontiers in neuroscience · 2023Review
- Human-specific ARHGAP11B ensures human-like basal progenitor levels in hominid cerebral organoids.EMBO reports · 2022Article
- Efficient Gene Expression in Human Stem Cell Derived-Cortical Organoids Using Adeno Associated Virus.Cells · 2022Article
- Review
- ALS-linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain-of-function.EMBO reports · 2022Article
- Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation.EMBO reports · 2022Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 echinoderm microtubule-associated protein-like 1 (EML1) gene. EML1-deficient organoids display ectopic neural rosettes at the basal side of the ventricular zone areas and clusters of heterotopic neurons. Single-cell RNA sequencing shows an upregulation of basal radial glial (RG) markers and human-specific extracellular matrix components in the ectopic cell population. Gene ontology and molecular analyses suggest that ectopic progenitor cells originate from perturbed apical RG cell behavior and yes-associated protein 1 (YAP1)-triggered expansion. Our data highlight a progenitor origin of EML1 mutation-induced MCD and provide new mechanistic insight into the human disease pathology.
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