نتایج جستجو برای: ژن mecp2

تعداد نتایج: 17535  

2016
Soo-Mi Kweon Feng Chi Reiichi Higashiyama Keane Lai Hidekazu Tsukamoto

PPAR-γ is essential for differentiation of hepatic stellate cells (HSC), and its loss due to epigenetic repression by methyl-CpG binding protein 2 (MeCP2) causes HSC myofibroblastic activation mediated in part via Wnt pathway, the key cellular event in liver fibrosis. Decreased miR-132 was previously proposed to promote MeCP2 protein translation for Ppar-γ repression in activated HSC (aHSC). Th...

Journal: :The Journal of biological chemistry 2007
Valerie H Adams Steven J McBryant Paul A Wade Christopher L Woodcock Jeffrey C Hansen

To probe the tertiary structure and domain organization of native methyl CpG-binding protein 2 (MeCP2), the recombinant human e2 isoform was purified to homogeneity and characterized by analytical ultracentrifugation, CD, and protease digestion. The location of intrinsic disorder in the MeCP2 sequence was predicted using the FoldIndex algorithm. MeCP2 was found to be monomeric in low and high s...

Journal: :Human molecular genetics 2005
Ulrike A Nuber Skirmantas Kriaucionis Tim C Roloff Jacky Guy Jim Selfridge Christine Steinhoff Ralph Schulz Bettina Lipkowitz H Hilger Ropers Megan C Holmes Adrian Bird

Rett syndrome (RTT) is a severe form of mental retardation, which is caused by spontaneous mutations in the X-linked gene MECP2. How the loss of MeCP2 function leads to RTT is currently unknown. Mice lacking the Mecp2 gene initially show normal postnatal development but later acquire neurological phenotypes, including heightened anxiety, that resemble RTT. The MECP2 gene encodes a methyl-CpG-bi...

2016
Jing-Wen Lyu Bo Yuan Tian-Lin Cheng Zi-Long Qiu Wen-Hao Zhou

MeCP2 encodes a methyl-CpG-binding protein that plays a critical role in repressing gene expression, mutations of which lead to Rett syndrome and autism. PTEN is a critical tumor suppressor gene that is frequently mutated in human cancers and autism spectrum disorders. Various studies have shown that both MeCP2 and PTEN proteins play important roles in brain development. Here we find that MeCP2...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2009
Lydia Wood Noah W Gray Zhaolan Zhou Michael E Greenberg Gordon M G Shepherd

Rett syndrome, an autism spectrum disorder with prominent motor and cognitive features, results from mutations in the gene for methyl-CpG-binding protein 2 (MeCP2). Here, to identify cortical circuit abnormalities that are specifically associated with MeCP2 deficiency, we used glutamate uncaging and laser scanning photostimulation to survey intracortical networks in mouse brain slices containin...

Journal: :Molecular Pain 2008
Sandrine M Géranton Vincenza Fratto Keri K Tochiki Stephen P Hunt

BACKGROUND Regulation of pain states is, in part, dependent upon plastic changes in neurones within the superficial dorsal horn. There is also compelling evidence that pain states are under the control of descending projections from the brainstem. While a number of transcription factors including Methyl-CpG-binding protein 2 (MeCP2), Zif268 and Fos have been implicated in the regulation of dors...

2016
Surabi Veeraragavan Ying-Wooi Wan Daniel R. Connolly Shannon M. Hamilton Christopher S. Ward Sirena Soriano Meagan R. Pitcher Christopher M. McGraw Sharon G. Huang Jennie R. Green Lisa A. Yuva Agnes J. Liang Jeffrey L. Neul Dag H. Yasui Janine M. LaSalle Zhandong Liu Richard Paylor Rodney C. Samaco

Mouse models of the transcriptional modulator Methyl-CpG-Binding Protein 2 (MeCP2) have advanced our understanding of Rett syndrome (RTT). RTT is a 'prototypical' neurodevelopmental disorder with many clinical features overlapping with other intellectual and developmental disabilities (IDD). Therapeutic interventions for RTT may therefore have broader applications. However, the reliance on the ...

Journal: :Biological chemistry 2013
Daniela Damen Rolf Heumann

Methyl-CpG binding protein 2 (MeCP2), a nuclear protein highly expressed in neurons, was identified because of its ability to bind methylated DNA. In association with the transcriptional corepressor proteins Sin3a and histone deacetylases, it represses gene transcription. However, it has since become clear that MeCP2 is a multifunctional protein involved not only in transcriptional silencing bu...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2014
Wen Zhang Matthew Peterson Barbara Beyer Wayne N Frankel Zhong-wei Zhang

Mutations of MECP2 cause Rett syndrome (RTT), a neurodevelopmental disorder leading to loss of motor and cognitive functions, impaired social interactions, and seizure at young ages. Defects of neuronal circuit development and function are thought to be responsible for the symptoms of RTT. The majority of RTT patients show recurrent seizures, indicating that neuronal hyperexcitation is a common...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2009
Jifang Tao Keping Hu Qiang Chang Hao Wu Nicholas E Sherman Keri Martinowich Robert J Klose Carolyn Schanen Rudolf Jaenisch Weidong Wang Yi Eve Sun

Mutations of MECP2 (Methyl-CpG Binding Protein 2) cause Rett syndrome. As a chromatin-associated multifunctional protein, how MeCP2 integrates external signals and regulates neuronal function remain unclear. Although neuronal activity-induced phosphorylation of MeCP2 at serine 421 (S421) has been reported, the full spectrum of MeCP2 phosphorylation together with the in vivo function of such mod...

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