نتایج جستجو برای: ژن mecp2

تعداد نتایج: 17535  

2012
Bianca Bertulat Maria Luigia De Bonis Floriana Della Ragione Anne Lehmkuhl Manuela Milden Christian Storm K. Laurence Jost Simona Scala Brian Hendrich Maurizio D’Esposito M. Cristina Cardoso

The X-linked Mecp2 is a known interpreter of epigenetic information and mutated in Rett syndrome, a complex neurological disease. MeCP2 recruits HDAC complexes to chromatin thereby modulating gene expression and, importantly regulates higher order heterochromatin structure. To address the effects of MeCP2 deficiency on heterochromatin organization during neural differentiation, we developed a v...

Journal: :Brain Stimulation 2023

Abstract Deep brain stimulation (DBS) is a United States Food & Drug Administration (FDA) approved invasive neuromodulation technique with proven sucess in ameliorating Parkinson’s disease (PD) motor symptoms (Laxton, Lipman and Lozano, 2013), high anatomical specificity reduced postsurgical complications. Moreover, DBS probed to regulate synaptic plasticity hippocampal neurogenesis (Toda et al...

2015
Ran Zhang Min Huang Zhijuan Cao Jieyu Qi Zilong Qiu Li-Yang Chiang

BACKGROUND The Methyl CpG binding protein 2 gene (MeCP2 gene) encodes a critical transcriptional repressor and is widely expressed in mammalian neurons. MeCP2 plays a critical role in neuronal differentiation, neural development, and synaptic plasticity. Mutations and duplications of the human MECP2 gene lead to severe neurodevelopmental disorders, such as Rett syndrome and autism. In this stud...

2016
Xiaohua Li Xiaohui Liu Haoyi Guo Zhaoxia Zhao Yun Sui Li Guoming Chen

The purpose of this study was to evaluate the correlation of expression of phosphorylated methyl-CpG binding protein 2-Ser421 (MeCP2-S421) and VEGF in the membranes of patients with PDR. We examined the expression of phospho-MeCP2-S80, S421, VEGF and PEDF in surgically excised PDR membranes from 33 patients with diabetes, and idiopathic epiretinal membranes from 11 patients without diabetes, us...

Journal: :Neurobiology of disease 2009
Nadia P Belichenko Pavel V Belichenko William C Mobley

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the gene MECP2, encoding methyl-CpG-binding protein 2 (MeCP2). Few studies have explored dendritic morphology phenotypes in mouse models of RTT and none have determined whether these phenotypes in affected females are cell autonomous or nonautonomous. Using confocal microscopy analysis we have examined the str...

Journal: :Neuroscience 2004
B C Mullaney M V Johnston M E Blue

The gene encoding methyl-CpG binding protein 2 (MeCP2) is mutated in the large majority of girls that have Rett Syndrome (RTT), an X-linked neurodevelopmental disorder. To better understand the developmental role of MeCP2, we studied the ontogeny of MeCP2 expression in rat brain using MeCP2 immunostaining and Western blots. MeCP2 positive neurons were present throughout the brain at all ages ex...

Journal: :Neurobiology of disease 2013
Ying-Tao Zhao Darren Goffin Brian S Johnson Zhaolan Zhou

Rett syndrome (RTT) is a neurodevelopmental disorder characterized by developmental regression beginning 6-18months after birth, followed by a lifetime of intellectual disability, stereotyped behaviors, and motor deficits. RTT is caused by mutations in the gene encoding MeCP2, a methyl-CpG binding protein believed to modulate gene transcription. Gene expression studies of individual brain regio...

Journal: :Molecular and cellular neurosciences 2003
Deborah R S Cohen Valéry Matarazzo Amy M Palmer Yajun Tu Ok-Hee Jeon Jonathan Pevsner Gabriele V Ronnett

Rett syndrome, a neurodevelopmental disorder hypothesized to be due to defective neuronal maturation, is a result of mutations in the mecp2 gene encoding the transcriptional repressor methyl-CpG binding protein (MeCP2). We utilized the olfactory system, which displays postnatal neurogenesis, as a model to investigate MeCP2 expression during development and after injury. MeCP2 expression increas...

2010
Michael L. Gonzales Janine M. LaSalle

Methyl CpG binding protein-2 (MeCP2) is an essential epigenetic regulator in human brain development. Rett syndrome, the primary disorder caused by mutations in the X-linked MECP2 gene, is characterized by a period of cognitive decline and development of hand stereotypies and seizures following an apparently normal early infancy. In addition, MECP2 mutations and duplications are observed in a s...

Journal: :Human molecular genetics 2012
Hélène Cheval Jacky Guy Cara Merusi Dina De Sousa Jim Selfridge Adrian Bird

Rett Syndrome is a neurological disorder caused by mutations in the X-linked MECP2 gene. Mouse models where Mecp2 is inactivated or mutated recapitulate several features of the disorder and have demonstrated a requirement for the protein to ensure brain function in adult mice. We deleted the Mecp2 gene in ~80% of brain cells at three postnatal ages to determine whether the need for MeCP2 varies...

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