NEDAMSS syndrome-related truncating and missense mutations are associated with aberrant liquid-liquid phase separation of IRF2BPL.
Dell'Oca M, Boggio Bozzo S, Vaglietti S, Marchetti C, Di Luca C, Munarin P, Nicoli M, Indellicato R, Ravanelli D, Falanga G, Iannielli A, Luoni M, Loffreda A, Berno V, Bianchini P, Sertic S, Conforti A, Rashidiani S, Aimaretti E, Collino M, Cecere I, Gallo A, Santoro F, Brancaccio D, Rosso S, Di Nardo G, Pertusio R, Cesano F, Monje Quiroga FJ, Ghirardi M, Roatta S, Colnaghi L, Fiumara F.
Dell'Oca M, et al. Among authors: sertic s.
Nat Commun. 2026 Feb 27;17(1):3301. doi: 10.1038/s41467-026-69781-7.
Nat Commun. 2026.
PMID: 41760624
Free PMC article.