Article
MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping.
Biomolecules - 8 May 2025
Mietto Martina, Montanari Silvia, Falzarano Maria Sofia, Manzati Elisa, Rimessi Paola, Fabris Marina, Selvatici Rita, Gualandi Francesca, Neri Marcella, Fortunato Fernanda, Foti Miryam Rosa Stella, Bigoni Stefania, Gessi Marco, Vacca Marcella, Torelli Silvia, Hayek Joussef, Ferlini Alessandra
Abstract excerpt
Rett syndrome (RTT) is a rare X-linked dominant neurodevelopmental disorder caused by pathogenic variants in the methyl-CpG-binding protein 2 (MECP2) gene, which encodes a methyl-CpG-binding protein (MeCP2) that acts as a repressor of gene expression, crucial in neurons. Dysfunction of MeCP2 due to its pathogenic variants explains the clinical features of RTT. Here, we performed histological and RNA analyses on a...
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