CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental condition, primarily affecting girls for which no cure currently exists. Neuronal morphogenesis and plasticity impairments as well as metabolic dysfunctions occur in CDD patients. The present study explored the potential therapeutic value for CDD of FRAX486, a brain-penetrant molecule that was reported to selectively inhibit group I p21-activated kinases (PAKs), serine/threonine kinases critically involved in the regulation of neuronal morphology and glucose homeostasis.
Treatment with FRAX486 rescues neurobehavioral and metabolic alterations in a female mouse model of CDKL5 deficiency disorder / Fuchs, Claudia; Cosentino, Livia; Urbinati, Chiara; Talamo, Maria Cristina; Medici, Giorgio; Quattrini, Maria Cristina; Mottolese, Nicola; Pietraforte, Donatella; Fuso, Andrea; Ciani, Elisabetta; De Filippis, Bianca. - In: CNS NEUROSCIENCE & THERAPEUTICS. - ISSN 1755-5930. - 28:11(2022), pp. 1718-1732. [10.1111/cns.13907]
Treatment with FRAX486 rescues neurobehavioral and metabolic alterations in a female mouse model of CDKL5 deficiency disorder
Cosentino, LiviaSecondo
;Urbinati, Chiara;Fuso, Andrea;
2022
Abstract
CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental condition, primarily affecting girls for which no cure currently exists. Neuronal morphogenesis and plasticity impairments as well as metabolic dysfunctions occur in CDD patients. The present study explored the potential therapeutic value for CDD of FRAX486, a brain-penetrant molecule that was reported to selectively inhibit group I p21-activated kinases (PAKs), serine/threonine kinases critically involved in the regulation of neuronal morphology and glucose homeostasis.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
