Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis
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Loss-of-function mutations in PSMB8/beta5i and other components of the 20S proteasome result in multi-organ diseases, such as Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. Neurocognitive dysfunction ass... ...
