The neuropathology of autism: A systematic review of post-mortem studies of autism and related disorders

R Fetit, RF Hillary, DJ Price, SM Lawrie - Neuroscience & Biobehavioral …, 2021 - Elsevier
Post-mortem studies allow for the direct investigation of brain tissue in those with autism and
related disorders. Several review articles have focused on aspects of post-mortem …

Methyl-CpG-binding protein 2 emerges as a central player in multiple sclerosis and neuromyelitis optica spectrum disorders

A Mehmood, S Shah, RY Guo, A Haider, M Shi… - Cellular and Molecular …, 2023 - Springer
MECP2 and its product methyl-CpG binding protein 2 (MeCP2) are associated with multiple
sclerosis (MS) and neuromyelitis optica spectrum disorders (NMOSD), which are …

Cerebral expression of metabotropic glutamate receptor subtype 5 in idiopathic autism spectrum disorder and fragile X syndrome: a pilot study

JR Brašić, A Nandi, DS Russell, D Jennings… - International journal of …, 2021 - mdpi.com
Multiple lines of evidence suggest that dysfunction of the metabotropic glutamate receptor
subtype 5 (mGluR5) plays a role in the pathogenesis of autism spectrum disorder (ASD). Yet …

Metabolomic fingerprint of Mecp2-deficient mouse cortex: Evidence for a pronounced multi-facetted metabolic component in Rett syndrome

G Golubiani, V Lagani, R Solomonia, M Müller - Cells, 2021 - mdpi.com
Using unsupervised metabolomics, we defined the complex metabolic conditions in the
cortex of a mouse model of Rett syndrome (RTT). RTT, which represents a cause of mental …

Multimodal Neuroimaging in Rett Syndrome With MECP2 Mutation

Y Kong, Q Li, Z Yuan, X Jiang, G Zhang… - Frontiers in …, 2022 - frontiersin.org
Rett syndrome (RTT) is a rare neurodevelopmental disorder characterized by severe
cognitive, social, and physical impairments resulting from de novo mutations in the X …

Substantial acetylcholine reduction in multiple brain regions of Mecp2-deficient female rats and associated behavioral abnormalities

H Murasawa, H Kobayashi, J Imai, T Nagase… - PLoS …, 2021 - journals.plos.org
Rett syndrome (RTT) is a neurodevelopmental disorder with X-linked dominant inheritance
caused mainly by mutations in the methyl-CpG-binding protein 2 (MECP2) gene. The effects …

Fragile X mental retardation protein and cerebral expression of metabotropic glutamate receptor subtype 5 in men with fragile X syndrome: a pilot study

JR Brašić, JA Goodman, A Nandi, DS Russell… - Brain Sciences, 2022 - mdpi.com
Multiple lines of evidence suggest that a deficiency of Fragile X Mental Retardation Protein
(FMRP) mediates dysfunction of the metabotropic glutamate receptor subtype 5 (mGluR5) in …

Resting-State Functional MRI and PET Imaging as Noninvasive Tools to Study (Ab) Normal Neurodevelopment in Humans and Rodents

C Millevert, N Vidas-Guscic, L Vanherp… - Journal of …, 2023 - Soc Neuroscience
Neurodevelopmental disorders (NDDs) are a group of complex neurologic and psychiatric
disorders. Functional and molecular imaging techniques, such as resting-state functional …

[HTML][HTML] Molecular Mechanisms of Rett Syndrome: Emphasizing the Roles of Monoamine, Immunity, and Mitochondrial Dysfunction

JL Gonçalez, J Shen, W Li - Cells, 2024 - mdpi.com
Rett syndrome (RTT), which predominantly affects females, arises in most cases from
mutations in the Methyl-CpG-binding Protein-2 (MECP2) gene. When MeCP2 is impaired, it …

Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders

S Bach, NM Ryan, P Guasoni, AP Corvin… - Scientific Reports, 2020 - nature.com
MECP2 and its product, Methyl-CpG binding protein 2 (MeCP2), are mostly known for their
association to Rett Syndrome (RTT), a rare neurodevelopmental disorder. Additional …