JOURNAL ARTICLE

Variations associated with neurodevelopmental disorders affect ARF1 function and cortical development.

  • Published In: Journal of Biochemistry, 2024, v. 176, n. 5. P. 347 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Ishiguro, Tomoki; Noda, Mariko; Nishikawa, Masashi; Nagata, Koh-ichi; Ito, Hidenori 3 of 3

Abstract

This article focuses on the functional characterization of ADP-ribosylation factor 1 (ARF1) variants associated with neurodevelopmental disorders (NDDs). ARF1 is a small GTPase involved in vesicle trafficking and Golgi apparatus regulation, critical for neuronal migration during cortical development. The study demonstrates that specific ARF1 variants—particularly p.R99C, p.R99H, and p.K127E—alter GDP/GTP exchange and GTPase activities, disrupt Golgi morphology, and impair cortical neuron migration in embryonic mice. These findings suggest that such ARF1 variants contribute to neurodevelopmental defects by affecting Golgi structure and neuronal migration, providing insight into the molecular basis of related disorders such as periventricular nodular heterotopia.

Additional Information

  • Source:Journal of Biochemistry. 2024/11, Vol. 176, Issue 5, p347
  • Document Type:Article
  • Subject Area:History
  • Publication Date:2024
  • ISSN:0021-924X
  • DOI:10.1093/jb/mvae053
  • Accession Number:180533180
  • Copyright Statement:Copyright of Journal of Biochemistry is the property of Oxford University Press / USA and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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