Loss of expression and function of Gβγ by GNB1 encephalopathy-associated L95P mutation of the Gβ1 subunit
Gβ<sub>1</sub>-L95P leads to both reduced protein expression and impaired function in the GIRK-Gβγ interaction system. The later effect can be attributed to the changes associated with protein misfolding.
Authors
- Daniel Yakubovich (ORCID: https://orcid.org/0000-0003-2871-1026)
- Tal Keren‐Raifman
- Nathan Dascal (ORCID: https://orcid.org/0000-0002-5397-4146)
- Galit Tabak (ORCID: https://orcid.org/0000-0003-0414-0847)
- Haritha P. Reddy (ORCID: https://orcid.org/0000-0002-6280-6558)
Institutions
- Tel Aviv University (IL)
- Laniado Hospital (IL)
- Ariel University (IL)
Publication Details
- Journal
- Frontiers in Pharmacology
- Published
- 2025-05-09
- DOI
- https://doi.org/10.3389/fphar.2025.1592012
- Primary Topic
- Receptor Mechanisms and Signaling
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Israel Science Foundation