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A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome.

08:00 EDT 16th May 2019 | BioPortfolio

Summary of "A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome."

Recent recognition of the key role of primary cilia in orchestrating human development and of the dire consequences of their dysfunction on human health have placed this small organelle in the spotlight. While the causal link between mutations in ciliary genes and central nervous system malformations and dysfunction is well established, the mechanisms by which primary cilia dysfunction acts on development and function of the CNS remain partly unknown. The recent article by Bashford and Subramanian in the Journal of Pathology describes a new mouse model for the neurodevelopmental ciliopathy Joubert syndrome, supporting a role for ciliary-mediated Hedgehog signaling on proliferation, survival and differentiation of cerebellar granule cell progenitors.

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This article was published in the following journal.

Name: The Journal of pathology
ISSN: 1096-9896
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