Article

Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis

2025-08-19

Abstract excerpt

Genetic mutations affecting proteasome function can result in multi-organ diseases, such as Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. Neurological symptoms associated with CANDLE suggest that proteasomal mutations may impact neuronal development and/or function. We generated cerebral organoids (COs) from CANDLE patient induced pluripotent stem cells (iP...

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Literature Corpus work: 0ebafc47-f101-549d-bc56-3c987d2e2aa4
DOI: 10.1101/2025.08.14.670165

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Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesisDOI 10.1101/2025.08.14.670165Read

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