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The molecular basis for immune dysregulation by the hyperactivated E62K mutant of the GTPase RAC2
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“Clinically, RAC2 mutations frequently lead to an immune disorder associated with recurrent susceptibility to infections (Arrington et al., 2020; Donkó et al., 2024).”
From RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation (2024) · cites this paper as Arrington et al., 2020
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The Ras-RasGAP Complex: Structural Basis for GTPase Activation and Its Loss in Oncogenic Ras Mutants
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Rac GTPases differentially integrate signals regulating hematopoietic stem cell localization
Cancelas, J. A., Lee, A. W., Prabhakar, R., Stringer, K. F., Zheng, Y., & Williams, D. A. (2005) · Nature Medicine · doi:10.1038/nm1274 · Cited by 278
Rac and Cdc42 GTPases control hematopoietic stem cell shape, adhesion, migration, and mobilization
Yang, F.-C., Atkinson, S. J., Gu, Y., Borneo, J. B., Roberts, A. W., Zheng, Y., Pennington, J., & Williams, D. A. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.101546898 · Cited by 201
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Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects
Hsu, A. P., Donkó, A., Arrington, M. E., Swamydas, M., Fink, D., Das, A., Escobedo, O., Bonagura, V., Szabolcs, P., Steinberg, H. N., et al. (2019) · Blood · doi:10.1182/blood-2018-11-886028 · Cited by 92
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Cited by
RHO GTPases: from new partners to complex immune syndromes
El Masri, R., & Delon, J. (2021) · Nature Reviews Immunology · doi:10.1038/s41577-021-00500-7 · Cited by 131
RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation
Doye, A., Chaintreuil, P., Lagresle-Peyrou, C., Batistic, L., Marion, V., Munro, P., Loubatier, C., Chirara, R., Sorel, N., Bessot, B., et al. (2024) · Journal of Experimental Medicine · doi:10.1084/jem.20231562 · Cited by 12
Metadata
- Authors
- Arrington, M. E., Temple, B., Schaefer, A., & Campbell, S. L.
- Venue
- Journal of Biological Chemistry
- Publisher
- Elsevier BV
- Published
- 2020-08
- Volume
- 295
- Issue
- 34
- Pages
- 12130-12142
- ISSN
- 0021-9258
- Cited by
- 19
- References
- 8
- Language
- en
- Funders
- HHS | NIH | National Cancer Institute (P01 CA203657, R01 CA224428, P30 CA016086)
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