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Microcephaly

  • SPOTLIGHT
    Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases
    Nichole Link, Hugo J. Bellen
    Development 2020 147: dev191411 doi: 10.1242/dev.191411 Published 28 September 2020

    Summary: This Spotlight discusses the methods for and the advantages of using Drosophila in the diagnosis of rare human diseases and identification of associated pathogenic mechanisms. Examples include human microcephaly.

  • TECHNIQUES AND RESOURCES
    Micro-computed tomography as a platform for exploring Drosophila development
    Todd A. Schoborg, Samantha L. Smith, Lauren N. Smith, H. Douglas Morris, Nasser M. Rusan
    Development 2019 146: dev176685 doi: 10.1242/dev.176685 Published 11 December 2019

    Summary: Micro-computed tomography in Drosophila is used to visualize all organs in an intact animal at micron resolution, providing a useful tool for whole-animal phenotyping.

  • STEM CELLS AND REGENERATION
    Minor spliceosome inactivation causes microcephaly, owing to cell cycle defects and death of self-amplifying radial glial cells
    Marybeth Baumgartner, Anouk M. Olthof, Gabriela S. Aquino, Katery C. Hyatt, Christopher Lemoine, Kyle Drake, Nikita Sturrock, Nhut Nguyen, Sahar al Seesi, Rahul N. Kanadia
    Development 2018 145: dev166322 doi: 10.1242/dev.166322 Published 28 August 2018

    Highlighted Article: Here, we report the first mammalian model to investigate the role of the minor spliceosome in cortical development and microcephaly – a conditional knockout mouse for Rnu11, the gene encoding the U11 small nuclear RNA.

  • SPOTLIGHT
    Using brain organoids to understand Zika virus-induced microcephaly
    Xuyu Qian, Ha Nam Nguyen, Fadi Jacob, Hongjun Song, Guo-li Ming
    Development 2017 144: 952-957; doi: 10.1242/dev.140707

    Summary: This Spotlight article summarises the latest advances in using cerebral organoids to model Zika virus infection and the resulting pathology.

  • STEM CELLS AND REGENERATION
    Zika virus infection disrupts neurovascular development and results in postnatal microcephaly with brain damage
    Qiang Shao, Stephanie Herrlinger, Si-Lu Yang, Fan Lai, Julie M. Moore, Melinda A. Brindley, Jian-Fu Chen
    Development 2016 143: 4127-4136; doi: 10.1242/dev.143768

    Highlighted article: A postnatal model for ZIKV infection reveals blood-brain barrier leakage, neuronal death, apoptosis and cell cycle arrest of NPCs, leading to microcephaly with brain damage in ZIKV-infected pups.

  • RESEARCH ARTICLE
    ATR maintains chromosomal integrity during postnatal cerebellar neurogenesis and is required for medulloblastoma formation
    Patrick Y. Lang, Gouri J. Nanjangud, Marina Sokolsky-Papkov, Christine Shaw, Duhyeong Hwang, Joel S. Parker, Alexander V. Kabanov, Timothy R. Gershon
    Development 2016 143: 4038-4052; doi: 10.1242/dev.139022

    Summary: The serine/threonine kinase ATR prevents chromosome fragmentation during postnatal cerebellar neurogenesis in mice, suggesting that ATR dependence may be exploited for medulloblastoma therapy.

  • RESEARCH ARTICLE
    Mutations in the murine homologue of TUBB5 cause microcephaly by perturbing cell cycle progression and inducing p53-associated apoptosis
    Martin Breuss, Tanja Fritz, Thomas Gstrein, Kelvin Chan, Lyubov Ushakova, Nuo Yu, Frederick W. Vonberg, Barbara Werner, Ulrich Elling, David A. Keays
    Development 2016 143: 1126-1133; doi: 10.1242/dev.131516

    Highlighted article: New mouse models reveal that human disease-causing mutations in the β-tubulin gene Tubb5 lead to defects in mitotic progression and massive cell death in the cortex.

  • RESEARCH ARTICLES
    Aspm sustains postnatal cerebellar neurogenesis and medulloblastoma growth in mice
    Scott E. Williams, Idoia Garcia, Andrew J. Crowther, Shiyi Li, Alyssa Stewart, Hedi Liu, Kendall J. Lough, Sean O'Neill, Katherine Veleta, Esteban A. Oyarzabal, Joseph R. Merrill, Yen-Yu Ian Shih, Timothy R. Gershon
    Development 2015 142: 3921-3932; doi: 10.1242/dev.124271

    Summary: In the mouse cerebellum, Aspm depletion causes increased DNA damage and impaired mitosis, leading to granule cell progenitor apoptosis. In medulloblastoma, Aspm sustains tumor growth.

  • STEM CELLS AND REGENERATION
    The vertebrate-specific Kinesin-6, Kif20b, is required for normal cytokinesis of polarized cortical stem cells and cerebral cortex size
    Kerstin M. Janisch, Vita M. Vock, Michael S. Fleming, Ayushma Shrestha, Cynthia M. Grimsley-Myers, Bareza A. Rasoul, Sarah A. Neale, Timothy D. Cupp, Jason M. Kinchen, Karel F. Liem, Jr, Noelle D. Dwyer
    Development 2013 140: 4672-4682; doi: 10.1242/dev.093286

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