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000293600 041__ $$aEnglish
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000293600 1001_ $$00000-0002-7690-0967$$aZaidi, Donia$$b0
000293600 245__ $$aForebrain Eml1 depletion reveals early centrosomal dysfunction causing subcortical heterotopia.
000293600 260__ $$aNew York, NY$$bRockefeller Univ. Press$$c2024
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000293600 520__ $$aSubcortical heterotopia is a cortical malformation associated with epilepsy, intellectual disability, and an excessive number of cortical neurons in the white matter. Echinoderm microtubule-associated protein like 1 (EML1) mutations lead to subcortical heterotopia, associated with abnormal radial glia positioning in the cortical wall, prior to malformation onset. This perturbed distribution of proliferative cells is likely to be a critical event for heterotopia formation; however, the underlying mechanisms remain unexplained. This study aimed to decipher the early cellular alterations leading to abnormal radial glia. In a forebrain conditional Eml1 mutant model and human patient cells, primary cilia and centrosomes are altered. Microtubule dynamics and cell cycle kinetics are also abnormal in mouse mutant radial glia. By rescuing microtubule formation in Eml1 mutant embryonic brains, abnormal radial glia delamination and heterotopia volume were significantly reduced. Thus, our new model of subcortical heterotopia reveals the causal link between Eml1's function in microtubule regulation and cell position, both critical for correct cortical development.
000293600 536__ $$0G:(DE-HGF)POF4-311$$a311 - Zellbiologie und Tumorbiologie (POF4-311)$$cPOF4-311$$fPOF IV$$x0
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000293600 650_7 $$2NLM Chemicals$$aMicrotubule-Associated Proteins
000293600 650_7 $$2NLM Chemicals$$aEml1 protein, mouse
000293600 650_7 $$2NLM Chemicals$$aEml1 protein, human
000293600 650_2 $$2MeSH$$aAnimals
000293600 650_2 $$2MeSH$$aCentrosome: metabolism
000293600 650_2 $$2MeSH$$aHumans
000293600 650_2 $$2MeSH$$aMicrotubule-Associated Proteins: genetics
000293600 650_2 $$2MeSH$$aMicrotubule-Associated Proteins: metabolism
000293600 650_2 $$2MeSH$$aProsencephalon: metabolism
000293600 650_2 $$2MeSH$$aProsencephalon: pathology
000293600 650_2 $$2MeSH$$aProsencephalon: embryology
000293600 650_2 $$2MeSH$$aMicrotubules: metabolism
000293600 650_2 $$2MeSH$$aMice
000293600 650_2 $$2MeSH$$aCilia: metabolism
000293600 650_2 $$2MeSH$$aCilia: pathology
000293600 650_2 $$2MeSH$$aMutation: genetics
000293600 650_2 $$2MeSH$$aEpendymoglial Cells: metabolism
000293600 650_2 $$2MeSH$$aEpendymoglial Cells: pathology
000293600 650_2 $$2MeSH$$aCell Cycle: genetics
000293600 7001_ $$00000-0001-9837-6943$$aChinnappa, Kaviya$$b1
000293600 7001_ $$00000-0002-3418-4448$$aYigit, Berfu Nur$$b2
000293600 7001_ $$00009-0002-4076-8092$$aViola, Valeria$$b3
000293600 7001_ $$00000-0003-2563-2082$$aCifuentes-Diaz, Carmen$$b4
000293600 7001_ $$00000-0002-2772-8531$$aJabali, Ammar$$b5
000293600 7001_ $$00000-0003-0696-6087$$aUzquiano, Ana$$b6
000293600 7001_ $$00000-0003-2314-1570$$aLemesre, Emilie$$b7
000293600 7001_ $$00000-0002-9129-9401$$aPerez, Franck$$b8
000293600 7001_ $$0P:(DE-He78)39b28715a3581ccbfe6d3d91dd98ce26$$aLadewig, Julia$$b9
000293600 7001_ $$00000-0002-4659-230X$$aFerent, Julien$$b10
000293600 7001_ $$00000-0002-5157-8780$$aOzlu, Nurhan$$b11
000293600 7001_ $$00000-0001-8542-7537$$aFrancis, Fiona$$b12
000293600 773__ $$0PERI:(DE-600)1421310-2$$a10.1083/jcb.202310157$$gVol. 223, no. 12, p. e202310157$$n12$$pe202310157$$tThe journal of cell biology$$v223$$x0021-9525$$y2024
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