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Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion

30 Apr 2019

Abstract excerpt

Mutations in genes encoding components of the intraflagellar transport (IFT) complexes have previously been associated with a spectrum of diseases collectively termed ciliopathies. Ciliopathies relate to defects in the formation or function of the cilium, a sensory or motile organelle present on the surface of most cell types. IFT52 is a key component of the IFT-B complex and ensures the interaction of the two...

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PMID: 31042281
DOI: 10.1093/hmg/ddz091

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