EMD-50123
Structure of a homomeric LRRC8C point mutation disease mutant
EMD-50123
Single-particle4.4 Å
Deposition: 18/04/2024Map released: 13/11/2024
Last modified: 04/06/2025
Sample Organism:
Homo sapiens
Sample: LRRC8C point mutation disease mutant
Fitted models: 9f16
Deposition Authors: Rutz S, Quinodoz M
,
Peter V ,
Garavelli L,
Innes MA,
Kellenberger S ,
Peng Z,
Barone A,
Campos-Xavier B ,
Unger S,
Rivolta C ,
Dutzler R ,
Superti-Furga A
Sample: LRRC8C point mutation disease mutant
Fitted models: 9f16
Deposition Authors: Rutz S, Quinodoz M
,
Peter V ,
Garavelli L,
Innes MA,
Kellenberger S ,
Peng Z,
Barone A,
Campos-Xavier B ,
Unger S,
Rivolta C ,
Dutzler R ,
Superti-Furga A
De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.
Quinodoz M ,
Rutz S,
Peter V ,
Garavelli L,
Innes AM ,
Lehmann EF ,
Kellenberger S ,
Peng Z,
Barone A,
Campos-Xavier B ,
Unger S,
Rivolta C ,
Dutzler R ,
Superti-Furga A
(2025) EMBO J , 44 , 413 - 436
,
Rutz S,
Peter V ,
Garavelli L,
Innes AM ,
Lehmann EF ,
Kellenberger S ,
Peng Z,
Barone A,
Campos-Xavier B ,
Unger S,
Rivolta C ,
Dutzler R ,
Superti-Furga A
(2025) EMBO J , 44 , 413 - 436
Grant Support:
- Swiss National Science Foundation: No. 310030_204373 (Switzerland)