Structural characterization of PHOX2B and its DNA interaction shed lights into the molecular basis of the + 7Ala variant pathogenicity in CCHS

Donatella Diana,Luciano Pirone,Luigi Russo, Gianluca D'Abrosca, Manoj Madheswaran,Roberta Benfante,Simona Di Lascio,Laura Caldinelli, D. Fornasari,Clementina Acconcia,Andrea Corvino, Nataliia Ventserova,Loredano Pollegioni,Carla Isernia,Sonia Di Gaetano,Gaetano Malgieri, Emilia Pedone,Roberto Fattorusso

Chemical Science（2024）

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摘要

An expansion of poly-alanine up to +13 residues in the C-terminus of the transcription factor PHOX2B underlies the onset of congenital central hypoventilation syndrome (CCHS). Recent studies demonstrated that the...

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