Correcting deregulated Fxyd1 expression rescues deficits in neuronal arborization and potassium homeostasis in MeCP2 deficient male mice
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DOI: 10.1016/j.brainres.2018.06.013
Abstract: Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the MECP2 gene. In the absence of MeCP2, expression of FXYD domain-containing transport regulator 1 (FXYD1) is deregulated in the frontal cortex (FC) of… read more here.
Keywords: activity; mecp2 deficient; expression; mice ... See more keywords
HDAC inhibitor ameliorates behavioral deficits in Mecp2 308/y mouse model of Rett syndrome
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DOI: 10.1016/j.brainres.2021.147670
Abstract: Rett syndrome (RTT) is a rare X-linked neurodevelopmental disorder. More than 95% of classic RETT syndrome cases result from pathogenic variants in the methyl-CpG binding protein 2 (MECP2) gene. Nevertheless, it has been established that… read more here.
Keywords: inhibitor ameliorates; rett syndrome; mecp2 308; mecp2 deficient ... See more keywords
Identification of Region-Specific Cytoskeletal and Molecular Alterations in Astrocytes of Mecp2 Deficient Animals
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DOI: 10.3389/fnins.2022.823060
Abstract: Rett syndrome (RTT) is a neurodevelopmental disorder that represents the most common genetic cause of severe intellectual disability in females. Most patients carry mutations in the X-linked MECP2 gene, coding for the methyl-CpG-binding protein 2… read more here.
Keywords: alterations astrocytes; mecp2 deficient; molecular alterations; mecp2 deficiency ... See more keywords
Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome
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DOI: 10.3390/ijms22094316
Abstract: Mutations in the X-linked MECP2 gene are responsible for Rett syndrome (RTT), a severe neurological disorder. MECP2 is a transcriptional modulator that finely regulates the expression of many genes, specifically in the central nervous system.… read more here.
Keywords: analysis astroglial; rett syndrome; mecp2; mecp2 deficient ... See more keywords