ArticleNature communications2022
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 20 citations in OpenAlex.
- Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.American journal of human genetics · 2026Article
- Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.European journal of human genetics : EJHG · 2026Article
- The Golgi apparatus: adaptations to neuronal shape and functions.The EMBO journal · 2026Review
- Article
- ARF1-Related Diseases in China: The Initial Study of Phenotype and Molecular Profile.Journal of cellular and molecular medicine · 2025Article
- Arfs on the Golgi: four conductors, one orchestra.Frontiers in molecular biosciences · 2025Review
- Characterization of the small Arabidopsis thaliana GTPase and ADP-ribosylation factor-like 2 protein TITAN 5.Journal of cell science · 2024Article
- Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.European journal of human genetics : EJHG · 2024Article
- Characterization of the smallbioRxiv : the preprint server for biology · 2024Article
- TBC1D23 mediates Golgi-specific LKB1 signaling.Nature communications · 2024Article
- Expression analysis of type I ARF small GTPases ARF1-3 during mouse brain development.Molecular biology reports · 2024Article
- Genome Sequencing of Idiopathic Speech Delay.Human mutation · 2024Article
- Interrogation and validation of the interactome of neuronal Munc18-interacting Mint proteins with AlphaFold2.The Journal of biological chemistry · 2024Article
- Article
- Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development.Nature communications · 2022Article
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Authors and funding
38 authors at 12 institutions in 4 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Vesicle biogenesis, trafficking and signaling via Endoplasmic reticulum-Golgi network support essential developmental processes and their disruption lead to neurodevelopmental disorders and neurodegeneration. We report that de novo missense variants in ARF3, encoding a small GTPase regulating Golgi dynamics, cause a developmental disease in humans impairing nervous system and skeletal formation. Microcephaly-associated ARF3 variants affect residues within the guanine nucleotide binding pocket and variably perturb protein stability and GTP/GDP binding. Functional analysis demonstrates variably disruptive consequences of ARF3 variants on Golgi morphology, vesicles assembly and trafficking. Disease modeling in zebrafish validates further the dominant behavior of the mutants and their differential impact on brain and body plan formation, recapitulating the variable disease expression. In-depth in vivo analyses traces back impaired neural precursors' proliferation and planar cell polarity-dependent cell movements as the earliest detectable effects. Our findings document a key role of ARF3 in Golgi function and demonstrate its pleiotropic impact on development.
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