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 …

[HTML][HTML] The role of insulin/IGF1 signalling in neurodevelopmental and neuropsychiatric disorders–evidence from human neuronal cell models

JM Réthelyi, K Vincze, D Schall, J Glennon… - … & Biobehavioral Reviews, 2023 - Elsevier
Insulin and insulin-like growth factor 1 (IGF1) signalling play a central role in the
development and maintenance of neurons in the brain, and human neurodevelopmental as …

Insights into the structure and function of the hippocampus: implications for the pathophysiology and treatment of autism spectrum disorder

J Long, H Li, Y Liu, X Liao, Z Tang, K Han… - Frontiers in …, 2024 - frontiersin.org
The hippocampus is one of the brain areas affected by autism spectrum disorder (ASD).
Individuals with ASD typically have impairments in hippocampus-dependent learning …

Re-formation of synaptic connectivity in dissociated human stem cell-derived retinal organoid cultures

AL Ludwig, SJ Mayerl, Y Gao, M Banghart… - Proceedings of the …, 2023 - pnas.org
Human pluripotent stem cell (hPSC)-derived retinal organoids (ROs) can efficiently and
reproducibly generate retinal neurons that have potential for use in cell replacement …

Mechanisms underlying the effect of voluntary running on adult hippocampal neurogenesis

Y Gao, M Syed, X Zhao - Hippocampus, 2023 - Wiley Online Library
Adult hippocampal neurogenesis is important for preserving learning and memory‐related
cognitive functions. Physical exercise, especially voluntary running, is one of the strongest …

The Mef2c gene dose-dependently controls hippocampal neurogenesis and the expression of autism-like behaviors

S Basu, EJ Ro, Z Liu, H Kim, A Bennett… - Journal of …, 2024 - jneurosci.org
Mutations in the activity-dependent transcription factor MEF2C have been associated with
several neuropsychiatric disorders. Among these, autism spectrum disorder (ASD)-related …

[HTML][HTML] Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome

V Matagne, E Borloz, Y Ehinger, L Saidi, L Villard… - Neurobiology of …, 2021 - Elsevier
Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily
caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second …

Excitation and inhibition imbalance in Rett syndrome

W Li - Frontiers in Neuroscience, 2022 - frontiersin.org
A loss of the excitation/inhibition (E/I) balance in the neural circuit has emerged as a
common neuropathological feature in many neurodevelopmental disorders. Rett syndrome …

Mitochondrial dysfunction and increased reactive oxygen species production in MECP2 mutant astrocytes and their impact on neurons

DL Tomasello, MI Barrasa, D Mankus, KI Alarcon… - Scientific Reports, 2024 - nature.com
Studies on MECP2 function and its implications in Rett Syndrome (RTT) have traditionally
centered on neurons. Here, using human embryonic stem cell (hESC) lines, we modeled …

[HTML][HTML] Rett syndrome and CDKL5 deficiency disorder: from bench to clinic

SD Kadam, BJ Sullivan, A Goyal, ME Blue… - International journal of …, 2019 - mdpi.com
Rett syndrome (RTT) and CDKL5 deficiency disorder (CDD) are two rare X-linked
developmental brain disorders with overlap** but distinct phenotypic features. This review …