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@ARTICLE{Zaidi:293600,
      author       = {D. Zaidi and K. Chinnappa and B. N. Yigit and V. Viola and
                      C. Cifuentes-Diaz and A. Jabali$^*$ and A. Uzquiano and E.
                      Lemesre and F. Perez and J. Ladewig$^*$ and J. Ferent and N.
                      Ozlu and F. Francis},
      title        = {{F}orebrain {E}ml1 depletion reveals early centrosomal
                      dysfunction causing subcortical heterotopia.},
      journal      = {The journal of cell biology},
      volume       = {223},
      number       = {12},
      issn         = {0021-9525},
      address      = {New York, NY},
      publisher    = {Rockefeller Univ. Press},
      reportid     = {DKFZ-2024-01917},
      pages        = {e202310157},
      year         = {2024},
      abstract     = {Subcortical 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.},
      keywords     = {Animals / Centrosome: metabolism / Humans /
                      Microtubule-Associated Proteins: genetics /
                      Microtubule-Associated Proteins: metabolism /
                      Prosencephalon: metabolism / Prosencephalon: pathology /
                      Prosencephalon: embryology / Microtubules: metabolism / Mice
                      / Cilia: metabolism / Cilia: pathology / Mutation: genetics
                      / Ependymoglial Cells: metabolism / Ependymoglial Cells:
                      pathology / Cell Cycle: genetics / Microtubule-Associated
                      Proteins (NLM Chemicals) / Eml1 protein, mouse (NLM
                      Chemicals) / Eml1 protein, human (NLM Chemicals)},
      cin          = {A340},
      ddc          = {570},
      cid          = {I:(DE-He78)A340-20160331},
      pnm          = {311 - Zellbiologie und Tumorbiologie (POF4-311)},
      pid          = {G:(DE-HGF)POF4-311},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39316454},
      doi          = {10.1083/jcb.202310157},
      url          = {https://inrepo02.dkfz.de/record/293600},
}