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

Author

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  • Vincent El Ghouzzi

    (Université Paris Cité)

  • Gaelle Boncompain

    (PSL Research University, CNRS UMR144)

Abstract

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.

Suggested Citation

  • Vincent El Ghouzzi & Gaelle Boncompain, 2022. "Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development," Nature Communications, Nature, vol. 13(1), pages 1-4, December.
    • Handle: RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-35101-y
    DOI: 10.1038/s41467-022-35101-y
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    References listed on IDEAS

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    1. Weichao Zhang & Xi Yang & Yingxiang Li & Linchen Yu & Bokai Zhang & Jianchao Zhang & Woo Jung Cho & Varsha Venkatarangan & Liang Chen & Bala Bharathi Burugula & Sarah Bui & Yanzhuang Wang & Cunming Du, 2022. "GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
    2. Giulia Fasano & Valentina Muto & Francesca Clementina Radio & Martina Venditti & Niloufar Mosaddeghzadeh & Simona Coppola & Graziamaria Paradisi & Erika Zara & Farhad Bazgir & Alban Ziegler & Giovanni, 2022. "Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish," Nature Communications, Nature, vol. 13(1), pages 1-29, December.
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