Bulk RNA sequencing analysis to follow the neuronal maturation of AHDS organoids
Eros Rossi, Francesca Ciarpella, Giulia Pedrotti, Chiara Santanatoglia, Benedetta Lucidi, Elisa De Tomi, Raluca Zamfir, Giovanni Malerba, Giorgio Malpeli, Ilaria Decimo · FENS Forum 2024
Neuronal development can be severely impacted under pathological conditions, altering the maturation of neuronal cells. Allan Herndon Dudley Syndrome (AHDS) is a rare X-linked syndrome caused by a mutation in the SLC16A2 gene, which encodes the specific transporter (monocarboxylate transported 8, MCT8) of thyroid T3 hormone, reducing its presence in the central nervous system and leading to severe neurological impairment. We investigated the neuronal maturation in an in vitro organoid model of AHDS, in which the pathological condition was resembled by removing the T3 hormone from the culture m
ePoster · Neuroscience