ArticleNature neuroscience2014
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.
Article in Nature neuroscience, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers.
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Who cites it
64 citing papers in PubMed, 162 citations in OpenAlex.
- TheiScience · 2026Article
- Article
- WWP1 gain-of-function drives developmental anoikis through TGFβ pathway during neurodevelopment.Cell death discovery · 2026Article
- Oriented cell divisions induce basal progenitors and regulate neural expansion across tissues and species.Science advances · 2026Article
- Position-independent emergence of neocortical neuron molecular identity, connectivity and function.Nature neuroscience · 2026Article
- Mid-gestational cell-type-specific transcriptomic signatures in the prefrontal and superior temporal cortex in Down syndrome.Nature communications · 2025Article
- Loss of Eml1 alters microtubule-associated protein networks in mouse brain heterotopia.Communications biology · 2025Article
- Early spinal cord development: from neural tube formation to neurogenesis.Nature reviews. Neuroscience · 2025Review
- Forebrain Eml1 depletion reveals early centrosomal dysfunction causing subcortical heterotopia.The Journal of cell biology · 2024Article
- Vitamin B5 is a context-dependent dietary regulator of nociception.G3 (Bethesda, Md.) · 2024Article
- An adhesion signaling axis involving Dystroglycan, β1-Integrin, and Cas adaptor proteins regulates the establishment of the cortical glial scaffold.PLoS biology · 2023Article
- Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary.Molecular genetics & genomic medicine · 2023Review
- Genetic map of regional sulcal morphology in the human brain from UK biobank data.Nature communications · 2022Article
- Review
- Neuron-glia crosstalk shapes brain morphogenesis.Clinical and translational medicine · 2022Article
- Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.Nature communications · 2022Article
- Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation.EMBO reports · 2022Article
- EML1 is essential for retinal photoreceptor migration and survival.Scientific reports · 2022Article
- Article
- Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.Human genetics · 2022Article
4 more citing papers are in PubMed but not listed here.
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22 authors at 9 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neuronal migration disorders such as lissencephaly and subcortical band heterotopia are associated with epilepsy and intellectual disability. DCX, PAFAH1B1 and TUBA1A are mutated in these disorders; however, corresponding mouse mutants do not show heterotopic neurons in the neocortex. In contrast, spontaneously arisen HeCo mice display this phenotype, and our study revealed that misplaced apical progenitors contribute to heterotopia formation. While HeCo neurons migrated at the same speed as wild type, abnormally distributed dividing progenitors were found throughout the cortical wall from embryonic day 13. We identified Eml1, encoding a microtubule-associated protein, as the gene mutated in HeCo mice. Full-length transcripts were lacking as a result of a retrotransposon insertion in an intron. Eml1 knockdown mimicked the HeCo progenitor phenotype and reexpression rescued it. We further found EML1 to be mutated in ribbon-like heterotopia in humans. Our data link abnormal spindle orientations, ectopic progenitors and severe heterotopia in mouse and human.
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