Pregnenolone-methyl-ether enhances CLIP170 and microtubule functions improving spine maturation and hippocampal deficits related to CDKL5 deficiency

Abstract Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) cause CDKL5 deficiency disorder (CDD), a neurodevelopmental disease characterized by severe infantile seizures and intellectual disability. The absence of CDKL5 in mice causes defective spine maturation that can at least parti...

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Veröffentlicht in:	Human molecular genetics 2022-08, Vol.31 (16), p.2738-2750
Hauptverfasser:	Barbiero, Isabella, Zamberletti, Erica, Tramarin, Marco, Gabaglio, Marina, Peroni, Diana, De Rosa, Roberta, Baldin, Serena, Bianchi, Massimiliano, Rubino, Tiziana, Kilstrup-Nielsen, Charlotte
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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