Variations associated with neurodevelopmental disorders affect ARF1 function and cortical development
Tomoki Ishiguro,
Mariko Noda,
Masashi Nishikawa
et al.
Abstract:ADP-ribosylation factors (ARFs) are a family of small GTPases that regulate vesicle trafficking and actin dynamics in cells. Recent genetic analyses have revealed associations between variations in ARF genes and neurodevelopmental disorders, although their pathophysiological significance remains unclear. In this study, we conducted biochemical, cell biological, and in vivo analyses of ARF1 variants linked to neurodevelopmental disorders. The mant-GDP dissociation assay revealed that ARF1-p.R19C, -p.F51L, -p.R9… Show more
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