Gln52 mutations in GNAO1-related disorders and personalized drug discovery

Gln52 mutations in GNAO1-related disorders and personalized drug discovery

•Gln52 mutations have been found in patients with GNAO1-related disorders.•Gln52 can be mutated to Pro and Arg, leading to different clinical manifestations.•Personalized drug discovery is tailored to specific GNAO1 mutations.

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Bibliographische Detailangaben
Veröffentlicht in:Epilepsy & behavior reports 2023, Vol.24, p.100598-100598, Article 100598
1. Verfasser: Katanaev, Vladimir L.
Format: Artikel
Sprache:eng
Schlagworte:
Animal models
Drug discovery
G protein
GNAO1
Missense mutations
Pediatric encephalopathy
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Beschreibung
Zusammenfassung:•Gln52 mutations have been found in patients with GNAO1-related disorders.•Gln52 can be mutated to Pro and Arg, leading to different clinical manifestations.•Personalized drug discovery is tailored to specific GNAO1 mutations.
ISSN:2589-9864
2589-9864
DOI:10.1016/j.ebr.2023.100598