Microcephaly
- Minor spliceosome inactivation causes microcephaly, owing to cell cycle defects and death of self-amplifying radial glial cells
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.
- Using brain organoids to understand Zika virus-induced microcephaly
Summary: This Spotlight article summarises the latest advances in using cerebral organoids to model Zika virus infection and the resulting pathology.
- Zika virus infection disrupts neurovascular development and results in postnatal microcephaly with brain damage
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.
- ATR maintains chromosomal integrity during postnatal cerebellar neurogenesis and is required for medulloblastoma formation
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.
- Mutations in the murine homologue of TUBB5 cause microcephaly by perturbing cell cycle progression and inducing p53-associated apoptosis
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.
- Aspm sustains postnatal cerebellar neurogenesis and medulloblastoma growth in mice
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.