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Journal Articles (Review Article) Biology of the Cell Year : 2019

Cilia in hereditary cerebral anomalies

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Ciliopathies are complex genetic multi-system disorders causally related to abnormal assembly or function of motile or non-motile cilia. While most human cells possess a non-motile sensory/primary cilium (PC) during development and/or in adult tissues, motile cilia are restricted to specialised cells. As a result, PC-associated ciliopathies are characterised by high phenotypic variability with extensive clinical and genetic overlaps. In the present review, we have focused on cerebral developmental anomalies, which are commonly found in PC-associated ciliopathies and which have mostly been linked to Hedgehog signalling defects. In addition, we have reviewed emerging evidence that PC dysfunctions could be directly or indirectly involved in the mechanisms underlying malformations of cerebral cortical development including primary microcephaly.
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inserm-02263786 , version 1 (08-08-2019)



Sophie Thomas, Lucile Boutaud, Madeline Louise Reilly, Alexandre Benmerah. Cilia in hereditary cerebral anomalies. Biology of the Cell, 2019, ⟨10.1111/boc.201900012⟩. ⟨inserm-02263786⟩
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