Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development

Association genetic studies and genome-scale CRISPR screens have recently identified ARF3 and TMEM251/LYSET/GCAF as Golgi-resident factors essential to brain and skeletal development. Here we discuss how even though the consequences of mutations in these genes affect endosomal and lysosomal compartm...

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Autores principales: El Ghouzzi, Vincent, Boncompain, Gaelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Comment
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9715697/
https://www.ncbi.nlm.nih.gov/pubmed/36456556
http://dx.doi.org/10.1038/s41467-022-35101-y
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author El Ghouzzi, Vincent
Boncompain, Gaelle
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Boncompain, Gaelle
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description Association genetic studies and genome-scale CRISPR screens have recently identified ARF3 and TMEM251/LYSET/GCAF as Golgi-resident factors essential to brain and skeletal development. Here we discuss how even though the consequences of mutations in these genes affect endosomal and lysosomal compartments, the problem originates in the Golgi complex and may involve either the identity of the carrier vesicles or that of cargo molecules.
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spelling pubmed-97156972022-12-03 Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development El Ghouzzi, Vincent Boncompain, Gaelle Nat Commun Comment Association genetic studies and genome-scale CRISPR screens have recently identified ARF3 and TMEM251/LYSET/GCAF as Golgi-resident factors essential to brain and skeletal development. Here we discuss how even though the consequences of mutations in these genes affect endosomal and lysosomal compartments, the problem originates in the Golgi complex and may involve either the identity of the carrier vesicles or that of cargo molecules. Nature Publishing Group UK 2022-12-01 /pmc/articles/PMC9715697/ /pubmed/36456556 http://dx.doi.org/10.1038/s41467-022-35101-y Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Comment
El Ghouzzi, Vincent
Boncompain, Gaelle
Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development
title Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development
title_full Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development
title_fullStr Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development
title_full_unstemmed Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development
title_short Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development
title_sort golgipathies reveal the critical role of the sorting machinery in brain and skeletal development
topic Comment
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9715697/
https://www.ncbi.nlm.nih.gov/pubmed/36456556
http://dx.doi.org/10.1038/s41467-022-35101-y
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