Autism spectrum disorder: pathogenesis, biomarker, and intervention therapy

H Zhuang, Z Liang, G Ma, A Qureshi, X Ran… - MedComm, 2024 - Wiley Online Library
Autism spectrum disorder (ASD) has become a common neurodevelopmental disorder. The
heterogeneity of ASD poses great challenges for its research and clinical translation. On the …

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 …

[HTML][HTML] Changes in the cerebrospinal fluid and plasma lipidome in patients with Rett syndrome

M Zandl-Lang, T Züllig, M Trötzmüller, Y Naegelin… - Metabolites, 2022 - mdpi.com
Rett syndrome (RTT) is defined as a rare disease caused by mutations of the methyl-CpG
binding protein 2 (MECP2). It is one of the most common causes of genetic mental …

Metformin Induces MeCP2 in the Hippocampus of Male Mice with Sex-Specific and Brain-Region-Dependent Molecular Impact

KS Arezoumand, CT Roberts, M Rastegar - Biomolecules, 2024 - mdpi.com
Rett Syndrome (RTT) is a progressive X-linked neurodevelopmental disorder with no cure.
RTT patients show disease-associated symptoms within 18 months of age that include …

Mitochondrial proteome changes in Rett syndrome

G Golubiani, L van Agen, L Tsverava, R Solomonia… - Biology, 2023 - mdpi.com
Simple Summary Rett syndrome (RTT) is a genetic disorder caused by mutations in the X-
chromosome. These mutations distort the function of a protein (methyl-CpG-binding protein …

Blood–Brain Barrier Integrity Is Perturbed in a Mecp2-Null Mouse Model of Rett Syndrome

G Pepe, S Fioriniello, F Marracino, L Capocci… - Biomolecules, 2023 - mdpi.com
Rett syndrome (RTT, online MIM 312750) is a devastating neurodevelopmental disorder
characterized by motor and cognitive disabilities. It is mainly caused by pathogenetic …

Systemic proteome phenotypes reveal defective metabolic flexibility in Mecp2 mutants

SA Zlatic, E Werner, V Surapaneni… - Human Molecular …, 2024 - academic.oup.com
Genes mutated in monogenic neurodevelopmental disorders are broadly expressed. This
observation supports the concept that monogenic neurodevelopmental disorders are …

Dendrimer nanotherapy targeting of glial dysfunction improves inflammation and neurobehavioral phenotype in adult female Mecp2‐heterozygous mouse model of …

ES Khoury, RV Patel, C O'Ferrall… - Journal of …, 2024 - Wiley Online Library
Rett syndrome is an X‐linked neurodevelopmental disorder caused by mutation of Mecp2
gene and primarily affects females. Glial cell dysfunction has been implicated in in Rett …

[HTML][HTML] Oral feeding of an antioxidant cocktail as a therapeutic strategy in a mouse model of Rett syndrome: merits and limitations of long-term treatment

L Baroncelli, S Auel, L Rinne, AK Schuster, V Brand… - Antioxidants, 2022 - mdpi.com
Rett syndrome (RTT) is a severe neurodevelopmental disorder that typically arises from
spontaneous germline mutations in the X-chromosomal methyl-CpG binding protein 2 …

Unraveling autophagic imbalances and therapeutic insights in Mecp2-deficient models

A Esposito, T Seri, M Breccia, M Indrigo… - EMBO Molecular …, 2024 - embopress.org
Loss-of-function mutations in MECP2 are associated to Rett syndrome (RTT), a severe
neurodevelopmental disease. Mainly working as a transcriptional regulator, MeCP2 …