Results 71 to 80 of about 15,547 (147)

CDKL5 is a brain MeCP2 target gene regulated by DNA methylation

Neurobiology of Disease, 2010
Rett syndrome and its “early-onset seizure” variant are severe neurodevelopmental disorders associated with mutations within the MECP2 and the CDKL5 genes.
Delphine Carouge, Lionel Host, Dominique Aunis, Jean Zwiller, Patrick Anglard   +4 more
doaj   +1 more source

Expert Consensus on Real‐World Use of Trofinetide for Rett Syndrome Using a Modified Delphi Method

Annals of the Child Neurology Society, Volume 4, Issue 1, Page 38-51, March 2026.
ABSTRACT Objective Trofinetide is the first approved treatment for Rett syndrome (RTT) in the United States and Canada. Trofinetide improved the core symptoms of RTT in clinical trials, and real‐world evidence supports the findings of clinical trials.
Erin O'Connor Prange, Arthur Beisang, Davut Pehlivan, Bernhard Suter, Paula Schleifer   +4 more
wiley   +1 more source

MeCP2 binds to methylated DNA independently of phase separation and heterochromatin organisation

Nature Communications
Correlative evidence has suggested that the methyl-CpG-binding protein MeCP2 contributes to the formation of heterochromatin condensates via liquid-liquid phase separation.
Raphaël Pantier, Megan Brown, Sicheng Han, Katie Paton, Stephen Meek, Thomas Montavon, Nicholas Shukeir, Toni McHugh, David A. Kelly, Tino Hochepied, Claude Libert, Thomas Jenuwein, Tom Burdon, Adrian Bird   +13 more
doaj   +1 more source

Non‐Histone Lactylation: A New Frontier in Cerebral Ischemia‐Reperfusion Injury

Med Research, Volume 2, Issue 1, Page 4-21, March 2026.
ABSTRACT Reperfusion therapy is the mainstay of treatment for ischemic stroke (IS) but frequently exacerbates secondary injury. Following cerebral ischemia and hypoxia, lactate accumulates markedly. Traditionally regarded as a metabolic byproduct, lactate has gained new significance with the discovery of protein lactylation. In addition to experimental
Minghui Tang, Yuying Mo, Zhishan Ling, Yuting Zeng, Qi Zhang, Shuqi Zheng, Shuyang Wen, Yupeng Xiao, Siying Long, Tingting Yang, Qianru Li, Wenjie Shi, Guozhi Huang, Qing Zeng   +13 more
wiley   +1 more source

An increase in MECP2 dosage impairs neural tube formation

Neurobiology of Disease, 2014
Epigenetic mechanisms are fundamental for shaping the activity of the central nervous system (CNS). Methyl-CpG binding protein 2 (MECP2) acts as a bridge between methylated DNA and transcriptional effectors responsible for differentiation programs in ...
Paolo Petazzi, Naiara Akizu, Alejandra García, Conchi Estarás, Alexia Martínez de Paz, Manuel Rodríguez-Paredes, Marian A. Martínez-Balbás, Dori Huertas, Manel Esteller   +8 more
doaj   +1 more source

MicroRNAs in Methamphetamine: Addiction, Neurotoxicity, and Therapeutic Potential

MedComm – Future Medicine, Volume 5, Issue 1, March 2026.
The use of METH leads to the release of dopamine from the affected brain regions, including the nucleus accumbens (NAc), ventral tegmental area (VTA), prefrontal cortex (PFC), hippocampus (Hip), and striatum. This triggers signals that alter miRNA expression, which in turn leads to differential expression of target genes.
Yacoubou Abdoul Razak Mahaman, An‐Ping Ye, Ya‐Xian Zhang, Ming‐Yu Chen, Fang Huang, Rong Liu, Ying‐Yan Fang, Xiaochuan Wang   +7 more
wiley   +1 more source

MiR-130a regulates neurite outgrowth and dendritic spine density by targeting MeCP2

Protein & Cell, 2016
MicroRNAs (miRNAs) are critical for both development and function of the central nervous system. Significant evidence suggests that abnormal expression of miRNAs is associated with neurodevelopmental disorders.
Yunjia Zhang, Mengmeng Chen, Zilong Qiu, Keping Hu, Warren McGee, Xiaoping Chen, Jianghong Liu, Li Zhu, Jane Y. Wu   +8 more
doaj   +1 more source

Gene therapy for epilepsy: An emerging, promising approach for a serious neurological disorder

Journal of Internal Medicine, Volume 299, Issue 3, Page 302-327, March 2026.
Abstract Gene therapy is emerging as a groundbreaking strategy for treating epilepsy, offering new hope to patients who do not respond to conventional medications. Despite advancements in anti‐seizure treatments, nearly 30%–40% of individuals with epilepsy continue to experience uncontrolled seizures, highlighting the urgent need for more effective and
Marco Ledri, Merab Kokaia
wiley   +1 more source

MeCP2 dysregulation inhibits mitophagy and impairs neural development in cortical organoids

Journal of Advanced Research
Introduction: Methylated CpG-binding protein 2 (MeCP2) plays a critical role in the normal development and function of the nervous system. Mutations in MeCP2 have been linked to neurodevelopmental disorders, potentially because of mitochondrial ...
Jing Zhou, Yuchun Liu, Xintao Jing, Hang Peng, Fang Li, Li Cao, Wen Li, Rufeng Li, Jinyuan Zhang, Xiaofei Wang, Jiangfang Lian, Dongdong Tong, Chen Huang   +12 more
doaj   +1 more source

A novel heterozygous pathogenic variation in the <i>MECP2</i> gene causing typical Rett syndrome: a case report. [PDF]

Transl Pediatr
Zheng Y, Yang Y, He L, Chen H, Wang D, Chen Y.   +5 more
europepmc   +1 more source