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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Detalles Bibliográficos
Autores principales: El Ghouzzi, Vincent, Boncompain, Gaelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
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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
Descripción
Sumario: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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