Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis.
与 CANDLE 综合征相关的蛋白酶体突变通过扰乱多胺合成导致神经元发育异常
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doi:10.1101/2025.08.14.670165
Winkler Clayton W, Schwarz Benjamin, Williams Katie, Alehashemi Sara, Foliaki Simote T, Snow Joseph, Joseph Lisa, Thurm Audrey, Friend Christopher, Cooper Gwendolyn, Bohrnsen Eric, Bhuyan Farzana, Brandes Nathan T, Moaddel Ruin, Boehm Manfred, Chen Guibin, Kimzey Cole D, Bielekova Bibiana, Kocot Joanna, Kosa Peter, Haigh Cathryn L, Goldbach-Mansky Raphaela, Peterson Karin E