Advanced genetic therapies for the treatment of Rett syndrome: state of the art and future perspectives

M Palmieri, D Pozzer, N Landsberger - Frontiers in Neuroscience, 2023 - frontiersin.org
Loss and gain of functions mutations in the X-linked MECP2 (methyl-CpG-binding protein 2)
gene are responsible for a set of generally severe neurological disorders that can affect both …

MeCP2 is an epigenetic factor that links DNA methylation with brain metabolism

YM Vuu, CT Roberts, M Rastegar - International Journal of Molecular …, 2023 - mdpi.com
DNA methylation, one of the most well-studied epigenetic modifications, is involved in a
wide spectrum of biological processes. Epigenetic mechanisms control cellular morphology …

Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study

APM Canton, FR Tinano, L Guasti… - The Lancet Diabetes & …, 2023 - thelancet.com
Background Identification of genetic causes of central precocious puberty have revealed
epigenetic mechanisms as regulators of human pubertal timing. MECP2, an X-linked gene …

[HTML][HTML] DDX47, MeCP2, and other functionally heterogeneous factors protect cells from harmful R loops

E Marchena-Cruz, LP Camino, J Bhandari, S Silva… - Cell Reports, 2023 - cell.com
Unscheduled R loops can be a source of genome instability, a hallmark of cancer cells.
Although targeted proteomic approaches and cellular analysis of specific mutants have …

The role of MeCP2 in regulating synaptic plasticity in the context of stress and depression

CL Sánchez-Lafuente, LE Kalynchuk, HJ Caruncho… - Cells, 2022 - mdpi.com
Methyl-CpG-binding protein 2 (MeCP2) is a transcriptional regulator that is highly abundant
in the brain. It binds to methylated genomic DNA to regulate a range of physiological …

[HTML][HTML] Long noncoding RNA XIST: mechanisms for X chromosome inactivation, roles in sex-biased diseases, and therapeutic opportunities

J Li, Z Ming, L Yang, T Wang, G Liu, Q Ma - Genes & Diseases, 2022 - Elsevier
Sexual dimorphism has been reported in various human diseases including autoimmune
diseases, neurological diseases, pulmonary arterial hypertension, and some types of …

[HTML][HTML] Three decades of valproate: a current model for studying autism Spectrum disorder

D Zarate-Lopez, AL Torres-Chávez… - Current …, 2023 - ncbi.nlm.nih.gov
Abstract Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with increased
prevalence and incidence in recent decades. Its etiology remains largely unclear, but it …

The human-restricted isoform of the α7 nAChR, CHRFAM7A: a double-edged sword in neurological and inflammatory disorders

S Di Lascio, D Fornasari, R Benfante - International Journal of Molecular …, 2022 - mdpi.com
CHRFAM7A is a relatively recent and exclusively human gene arising from the partial
duplication of exons 5 to 10 of the α7 neuronal nicotinic acetylcholine receptor subunit (α7 …

Sex differences in brain disorders

M Ziemka-Nalecz, P Pawelec, K Ziabska… - International Journal of …, 2023 - mdpi.com
A remarkable feature of the brain is its sexual dimorphism. Sexual dimorphism in brain
structure and function is associated with clinical implications documented previously in …

State‐of‐the‐art therapies for Rett syndrome

N Panayotis, Y Ehinger, MS Felix… - … Medicine & Child …, 2023 - Wiley Online Library
Rett syndrome (RTT) is an X‐linked neurogenetic disorder caused by mutations of the
MECP2 (methyl‐CpG‐binding protein 2) gene. Over two decades of work established …