Golgi Dysfunctions in Ciliopathies

Cells. 2022 Sep 6;11(18):2773. doi: 10.3390/cells11182773.

Abstract

The Golgi apparatus (GA) is essential for intracellular sorting, trafficking and the targeting of proteins to specific cellular compartments. Anatomically, the GA spreads all over the cell but is also particularly enriched close to the base of the primary cilium. This peculiar organelle protrudes at the surface of almost all cells and fulfills many cellular functions, in particular during development, when a dysfunction of the primary cilium can lead to disorders called ciliopathies. While ciliopathies caused by loss of ciliated proteins have been extensively documented, several studies suggest that alterations of GA and GA-associated proteins can also affect ciliogenesis. Here, we aim to discuss how the loss-of-function of genes coding these proteins induces ciliary defects and results in ciliopathies.

Keywords: Golgi; Golgipathies; ciliopathy; genetic screening; primary cilium.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Movement
  • Cilia* / metabolism
  • Ciliopathies* / genetics
  • Ciliopathies* / metabolism
  • Golgi Apparatus / metabolism
  • Humans
  • Organelles / metabolism

Grants and funding

J.M. and V.E.G. are supported by Centre National de la Recherche Scientifique.