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Article

Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion.

Molecular biology reports - 13 Sept 2024

Karaosmanoglu Beren, Imren Gozde, Ozisin M Samil, Reçber Tuba, Simsek Kiper Pelin Ozlem, Haliloglu Goknur, Alikaşifoğlu Mehmet, Nemutlu Emirhan, Taskiran Ekim Z, Utine Gulen Eda

Abstract excerpt

BACKGROUND: Rett syndrome (RTT) is a rare neurodevelopmental disorder that primarily affects females and is characterized by a period of normal development followed by severe cognitive, motor, and communication impairment. The syndrome is predominantly caused by mutations in the MECP2. This study aimed to use comprehensive multi-omic analysis to identify the molecular and metabolic alterations associated with...

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PMID: 39269588
DOI: 10.1007/s11033-024-09915-6

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