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EMD-50072
Structure of the extracellular subdomain of a homomeric LRRC8C truncation disease mutant
EMD-50072
Single-particle3.41 Å
Deposition: 11/04/2024Map released: 13/11/2024
Last modified: 04/06/2025
Sample Organism:
Homo sapiens
Sample: Homomeric LRRC8C truncation disease mutant
Fitted models: 9ezc
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: Homomeric LRRC8C truncation disease mutant
Fitted models: 9ezc
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)