Journal of Clinical Investigation · Published 2026-08-04 · DOI 10.1172/jci199140
Clayton W. Winkler, Benjamin Schwarz, Katie Williams, Sara Alehashemi, Simote T. Foliaki, Joseph Snow, Lisa Joseph, Audrey Thurm, Christopher L. Friend, Gwendolyn Cooper, Eric Bohrnsen, Farzana Bhuyan, Nathan T. Brandes, Ruin Moaddel, Manfred Boehm, Guibin Chen, Cole D. Kimzey, Bibiana Bielekova, Joanna Kocot, Peter Kosa, Cathryn L. Haigh, Raphaela Goldbach-Mansky, Karin E. Peterson
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Winkler, C., Schwarz, B., Williams, K., et al. (2026). Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis. Journal of Clinical Investigation. https://doi.org/10.1172/jci199140