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Golgi Dysfunctions in Ciliopathies

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...

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Detalles Bibliográficos
Autores principales: Masson, Justine, El Ghouzzi, Vincent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9496873/
https://www.ncbi.nlm.nih.gov/pubmed/36139347
http://dx.doi.org/10.3390/cells11182773
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author Masson, Justine
El Ghouzzi, Vincent
author_facet Masson, Justine
El Ghouzzi, Vincent
author_sort Masson, Justine
collection PubMed
description 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.
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spelling pubmed-94968732022-09-23 Golgi Dysfunctions in Ciliopathies Masson, Justine El Ghouzzi, Vincent Cells Review 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. MDPI 2022-09-06 /pmc/articles/PMC9496873/ /pubmed/36139347 http://dx.doi.org/10.3390/cells11182773 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Masson, Justine
El Ghouzzi, Vincent
Golgi Dysfunctions in Ciliopathies
title Golgi Dysfunctions in Ciliopathies
title_full Golgi Dysfunctions in Ciliopathies
title_fullStr Golgi Dysfunctions in Ciliopathies
title_full_unstemmed Golgi Dysfunctions in Ciliopathies
title_short Golgi Dysfunctions in Ciliopathies
title_sort golgi dysfunctions in ciliopathies
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9496873/
https://www.ncbi.nlm.nih.gov/pubmed/36139347
http://dx.doi.org/10.3390/cells11182773
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