BRAG about (s)lots

BRAG about (s)lots

Mutations in IQSEC2/BRAG1 cause intellectual dysfunction by impairing ARF-GEF activity and long-term depression. In this issue, Bai et al. (https://doi.org/10.1083/jcb.202307117) discover how constitutive ARF-GEF activity is regulated by a closed conformation which opens in the presence of Ca2+. Two...

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Veröffentlicht in:The Journal of cell biology 2023-12, Vol.222 (12), p.1
Hauptverfasser: Brown, Joshua C, Hell, Johannes W, Gerges, Nashaat Z
Format: Artikel
Sprache:eng
Schlagworte:
Calcium
Cognition
Guanine Nucleotide Exchange Factors - genetics
Guanine Nucleotide Exchange Factors - physiology
Mutation
Neuronal Plasticity
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Zusammenfassung:Mutations in IQSEC2/BRAG1 cause intellectual dysfunction by impairing ARF-GEF activity and long-term depression. In this issue, Bai et al. (https://doi.org/10.1083/jcb.202307117) discover how constitutive ARF-GEF activity is regulated by a closed conformation which opens in the presence of Ca2+. Two known pathogenic mutations cause "leaky" autoinhibition with reduced synaptic dynamic range and impaired cognitive performance.
ISSN:0021-9525
1540-8140
DOI:10.1083/jcb.202310023