ARF1-related disorder: phenotypic and molecular spectrum

JM de Sainte Agathe, B Pode-Shakked… - Journal of Medical …, 2023 - jmg.bmj.com
… , encoded by ARFGEF2). ARF1 GTP then can initiate vesicle formation through recruitment
of … Interestingly, in vitro and in vivo functional assays on ARF1 mutants have shown dominant …

Variations associated with neurodevelopmental disorders affect ARF1 function and cortical development

T Ishiguro, M Noda, M Nishikawa… - The Journal of …, 2024 - academic.oup.com
… FLNA controls ARFGEF2-dependent ARF1 activation and regulates the migration of cortical
… ) Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and …

Dominantly acting variants in ARF3 have disruptive consequences on Golgi integrity and cause microcephaly recapitulated in zebrafish

G Fasano, V Muto, FC Radio, M Venditti, A Ziegler… - 2021 - researchsquare.com
Vesicle biogenesis, trafficking and signaling via the ER-Golgi network support … implicated
in the body curvature 394 defects observed in the embryos expressing the ARF3 mutants, we …

A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1

M Ishida, MG Otero, C Freeman… - Human Molecular …, 2023 - academic.oup.com
… Each of these coat proteins mediates a specific transport … To further investigate the effect of
the R99H mutation on … /or its regulators have been implicated in neuronal migration (46,47), …

Roots of the malformations of cortical development in the cell biology of neural progenitor cells

C Ossola, N Kalebic - Frontiers in Neuroscience, 2022 - frontiersin.org
… heterotopia present mutations in the ARFGEF2 (ADP-… exchange, regulating Golgi vesicular
budding and uncoating… cell biological features in neural progenitors implicated in the …

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish

G Fasano, V Muto, FC Radio, M Venditti… - Nature …, 2022 - nature.com
mutants impair COP-I vesicle formation and cargo recycling in COS-1 cells Given the known
involvement of ARF GTPases in vesicles budding, endosomal transport, … how ARF3 mutants

Cortical Neuron Migration in Health and Disease

M Javier‐Torrent, L Nguyen - Neocortical Neurogenesis in …, 2023 - Wiley Online Library
… in radial glia scaffolding, neuronal migration and proliferation of neural progenitors. PNH
also … Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and …

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Q Thomas, T Gautier, D Marafi, T Besnard… - Genetics in …, 2021 - nature.com
Vesicular trafficking is a critical process in eukaryotic cells. It … used to generate the putative
mutant structures and to render … in a Turkish family with ARFGEF2 (periventricular heterotopia …

[HTML][HTML] Golgi-dependent reactivation and regeneration of Drosophila quiescent neural stem cells

MR Gujar, Y Gao, X Teng, Q Deng, KY Lin, YS Tan… - Developmental Cell, 2023 - cell.com
… The ability of stem cells to switch between quiescent and proliferative states is crucial for
tissue homeostasis. In the mammalian brain, most adult neural stem cells (NSCs) exist in a …

ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity

S Gana, A Casella, S Cociglio, E Tartara… - Journal of Medical …, 2022 - jmg.bmj.com
… heterotopia occurs within the neural progenitors along the … –cell adhesion and vesicle
trafficking. Pathogenic variants in … reported in FLNA-mutated and ARFGEF2-mutated patients,5 19 …