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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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. |
format | Online Article Text |
id | pubmed-9496873 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT massonjustine golgidysfunctionsinciliopathies AT elghouzzivincent golgidysfunctionsinciliopathies |