keyword
MENU ▼
Read by QxMD icon Read
search

Mecp2

keyword
https://www.readbyqxmd.com/read/29661834/mir-132-couples-the-circadian-clock-to-daily-rhythms-of-neuronal-plasticity-and-cognition
#1
Sydney Aten, Katelin F Hansen, Kaitlin Snider, Kelin Wheaton, Anisha Kalidindi, Ashley Garcia, Diego Alzate-Correa, Kari R Hoyt, Karl Obrietan
The microRNA miR-132 serves as a key regulator of a wide range of plasticity-associated processes in the central nervous system. Interestingly, miR-132 expression has also been shown to be under the control of the circadian timing system. This finding, coupled with work showing that miR-132 is expressed in the hippocampus, where it influences neuronal morphology and memory, led us to test the idea that daily rhythms in miR-132 within the forebrain modulate cognition as a function of circadian time. Here, we show that hippocampal miR-132 expression is gated by the time-of-day, with peak levels occurring during the circadian night...
May 2018: Learning & Memory
https://www.readbyqxmd.com/read/29657083/the-course-of-awake-breathing-disturbances-across-the-lifespan-in-rett-syndrome
#2
Daniel C Tarquinio, Wei Hou, Jeffrey L Neul, Gamze Kilic Berkmen, Jana Drummond, Elizabeth Aronoff, Jennifer Harris, Jane B Lane, Walter E Kaufmann, Kathleen J Motil, Daniel G Glaze, Steven A Skinner, Alan K Percy
Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder caused by mutations in MECP2, is associated with a peculiar breathing disturbance exclusively during wakefulness that is distressing, and can even prompt emergency resuscitation. Through the RTT Natural History Study, we characterized cross sectional and longitudinal characteristics of awake breathing abnormalities in RTT and identified associated clinical features. Participants were recruited from 2006 to 2015, and cumulative lifetime prevalence of breathing dysfunction was determined using the Kaplan-Meier estimator...
April 12, 2018: Brain & Development
https://www.readbyqxmd.com/read/29621262/rescue-of-hyperexcitability-in-hippocampal-ca1-neurons-from-mecp2-y-mouse-through-surface-potential-neutralization
#3
Saju Balakrishnan, Sergej L Mironov
Hyperventilation is a known feature of Rett syndrome (RTT). However, how hyperventilation is related to other RTT symptoms such as hyperexcitability is unknown. Intense breathing during hyperventilation induces hypocapnia and culminates in respiratory alkalosis. Alkalinization of extracellular milieu can trigger epilepsy in patients who already have neuronal hyperexcitability. By combining patch-clamp electrophysiology and quantitative glutamate imaging, we compared excitability of CA1 neurons of WT and Mecp2 (-/y) mice, and analyzed the biophysical properties of subthreshold membrane channels...
2018: PloS One
https://www.readbyqxmd.com/read/29618507/further-delineation-of-the-mecp2-duplication-syndrome-phenotype-in-59-french-male-patients-with-a-particular-focus-on-morphological-and-neurological-features
#4
Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thevenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remerand, Christine Francannet, Fanny Laffargue, Odile Boespflug-Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laetitia Lambert, Christophe Philippe, Mylène Béri-Dexheimer, Jean-Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier-Daire, Marlene Rio, Jean-Paul Bonnefont, Bernard Echenne, Hubert Journel, Lydie Burglen, Sandrine Chantot-Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre-Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin-Robinet, Réseau AChro-Puce, Jean-Michel Pedespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent-Delorme, Bénédicte Duban-Bedu, Nadia Bahi-Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean-Luc Alessandri, Dominique Martin-Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne-Laure Mosca-Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne-Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert-Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent Des Portes, Salima El Chehadeh
The Xq28 duplication involving the MECP2 gene ( MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus on morphological and neurological features. Through a national collaborative study, we report a large French series of 59 affected males with interstitial MECP2 duplication...
April 4, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29615114/mecp2-mediated-epigenetic-regulation-in-senescent-endothelial-progenitor-cells
#5
Chunli Wang, Fei Wang, Zhen Li, Qing Cao, Liya Huang, Shuyan Chen
BACKGROUND: Cellular aging may be associated with epigenetics. Methyl-CpG-binding protein 2 (MeCP2) and sirtuin 1 (SIRT1) are two important epigenetic factors. Our former work demonstrated that MeCP2 expression increased and SIRT1 expression decreased in senescent endothelial progenitor cells (EPCs). This article aims to reveal the epigenetic regulation caused by MeCP2 in EPCs and discuss its mechanism. METHODS: Tube formation assay and cell apoptosis detection were used to evaluate the function of senescent EPCs induced by MeCP2 overexpression...
April 3, 2018: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29614648/altered-microrna-mrna-and-protein-expression-of-neurodegeneration-related-biomarkers-and-their-transcriptional-and-epigenetic-modifiers-in-a-human-tau-transgenic-mouse-model-in-response-to-developmental-lead-exposure
#6
Anwar M Masoud, Syed W Bihaqi, Bothaina Alansi, Miriam Dash, Gehad M Subaiea, William E Renehan, Nasser H Zawia
Amyloid deposits originating from the amyloid-β protein precursor (AβPP) and aggregates of the microtubule associated protein tau (MAPT) are the hallmarks of Alzheimer's disease (AD). Animal studies have demonstrated a link between early life exposure to lead (Pb) and latent overexpression of the AβPP and MAPT genes and their products via epigenetic reprogramming. The present study monitored APP gene and epigenetic mediators and transcription factors known to regulate it. Western blot analysis and quantitative polymerase chain reaction (qPCR) were used to study the mRNA, miRNA, and proteins levels of AβPP, specificity protein 1 (SP1; a transcriptional regulator of amyloid and tau pathway), and epigenetic intermediates namely: DNA methyltransferase (DNMT) 1, DNMT3a and Methyl- CpG protein binding 2 (MeCP2) in the cerebral cortex of transgenic mice (Knock-in for human MAPT)...
March 28, 2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29609636/a-perspective-on-cure-for-rett-syndrome
#7
Angus John Clarke, Ana Paula Abdala Sheikh
The reversal of the Rett syndrome disease process in the Mecp2 mouse model of Guy et al. (2007) has motivated families and researchers to work on this condition. The reversibility in adult mice suggests that there is potentially much to be gained from rational treatments applied to patients of any age. However, it may be difficult to strike the right balance between enthusiasm on the one hand and realism on the other. One effect of this has been a fragmentation of the "Rett syndrome community" with some groups giving priority to work aimed at a cure while fewer resources are devoted to medical or therapy-based interventions to enhance the quality of life of affected patients or provide support for their families...
April 2, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29600274/-wdr45-mutations-may-cause-a-mecp2-mutation-negative-rett-syndrome-phenotype
#8
Leonora Kulikovskaja, Adrijan Sarajlija, Dusanka Savic-Pavicevic, Valerija Dobricic, Christine Klein, Ana Westenberger
No abstract text is available yet for this article.
April 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29595472/mechanism-and-consequence-of-abnormal-calcium-homeostasis-in-rett-syndrome-astrocytes
#9
Qiping Dong, Qing Liu, Ronghui Li, Anxin Wang, Qian Bu, Kuan-Hong Wang, Qiang Chang
Astrocytes play an important role in Rett syndrome (RTT) disease progression. Although the non-cell-autonomous effect of RTT astrocytes on neurons was documented, cell-autonomous phenotypes and mechanisms within RTT astrocytes are not well understood. We report that spontaneous calcium activity is abnormal in RTT astrocytes in vitro , in situ , and in vivo . Such abnormal calcium activity is mediated by calcium overload in the endoplasmic reticulum caused by abnormal store operated calcium entry, which is in part dependent on elevated expression of TRPC4...
March 29, 2018: ELife
https://www.readbyqxmd.com/read/29594436/a-palladium-platinum-bimetal-nanodendritic-melamine-network-for-signal-amplification-in-voltammetric-sensing-of-dna
#10
Jun Chen, Chao Yu, Rufei Gao, Yanqing Geng, Yilin Zhao, Yazhen Niu, Lei Zhang, Yujie Yu, Junlin He
A sandwich-type electrochemical DNA sensor is described for the detection of oligonucleotides typical for MECP2 gene mutations. Palladium nanoparticles (PdNPs) and platinum nanoparticles (PtNPs) were used to synthesize flower-like PdPt nanodendrites (NDs) by a one-pot method. The PdPt NDs possess a high specific surface area and excellent catalytic capabilities. They served as the carrier for the signal DNA probe (SP) and simultaneously catalyze the reduction of hydrogen peroxide (H2 O2 ). The PdPt NDs were modified with melamine, and this results in the formation of a PdPt-melamine network through stable interactions between the PdPt NDs and the three amino groups of each melamine molecule...
January 27, 2018: Mikrochimica Acta
https://www.readbyqxmd.com/read/29592776/epigenetic-dynamics-of-hoxa10-gene-in-infertile-women-with-endometriosis
#11
Yasaman Samadieh, Raha Favaedi, Fariba Ramezanali, Parvaneh Afsharian, Reza Aflatoonian, Maryam Shahhoseini
Endometriosis, which has been considered an epigenetic disease, is a prevalent gynecological disorder worldwide. With an emphasis on changes in the HOXA10 gene expression of the endometrium of women with endometriosis, the aim of this study was to investigate HOXA10 gene expression and its correlation with the epigenetic characteristics of the specific promoter region of the gene in the eutopic and ectopic endometrium of women with endometriosis. Thirty-six patients and 21 healthy fertile women were recruited as participants of this study...
January 1, 2018: Reproductive Sciences
https://www.readbyqxmd.com/read/29570050/forniceal-deep-brain-stimulation-induces-gene-expression-and-splicing-changes-that-promote-neurogenesis-and-plasticity
#12
Amy E Pohodich, Hari Yalamanchili, Ayush T Raman, Ying-Wooi Wan, Michael Gundry, Shuang Hao, Haijing Jin, Jianrong Tang, Zhandong Liu, Huda Y Zoghbi
Clinical trials are currently underway to assess the efficacy of forniceal deep brain stimulation (DBS) for improvement of memory in Alzheimer's patients, and forniceal DBS has been shown to improve learning and memory in a mouse model of Rett syndrome (RTT), an intellectual disability disorder caused by loss-of-function mutations in MECP2 . The mechanism of DBS benefits has been elusive, however, so we assessed changes in gene expression, splice isoforms, DNA methylation, and proteome following acute forniceal DBS in wild-type mice and mice lacking Mecp2 ...
March 23, 2018: ELife
https://www.readbyqxmd.com/read/29568890/mir-19a-b-and-mecp2-repress-reciprocally-to-regulate-multidrug-resistance-in-gastric-cancer-cells
#13
Fei Zhu, Qiong Wu, Zhen Ni, Chao Lei, Ting Li, Yongquan Shi
Despite the improvement in gastric cancer (GC) treatment, multidrug resistance (MDR) is still a significant reason for chemotherapy failure. Our previous studies have demonstrated that miR-19a/b upregulation directly promoted MDR in GC cells. However, the exact regulation and the potential molecule mechanisms have not been fully clarified. In this study, we found that miR-19a/b was directly involved in 5-aza-2'-deoxycytidine (5-Aza-dC) induced MDR of GC cells. Mechanically, demethylation of miR-19a/b repressed methyl CpG binding protein 2 (MeCP2) expression via direct binding at the 3'-untranslated regions, which then alleviated the inhibitory effects of MeCP2 on miR-19a/b expression...
March 22, 2018: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29567833/structural-basis-for-the-ability-of-mbd-domains-to-bind-methyl-cg-and-tg-sites-in-dna
#14
Ke Liu, Chao Xu, Ming Lei, Ally Yang, Peter Loppnau, Timothy R Hughes, Jinrong Min
Cytosine methylation is a well characterized epigenetic mark and occurs at both CG and non-CG sites in DNA. Both methylated CG (mCG)- and mCH (H = A, C, or T)-containing DNAs, especially mCAC-containing DNAs, are recognized by methyl-CpG-binding protein 2 (MeCP2) to regulate gene expression in neuron development. However, the molecular mechanism involved in the binding of methyl-CpG-binding domain (MBD) of MeCP2 to these different DNA motifs is unclear. Here, we systematically characterized the DNA-binding selectivity of the MBDs in MeCP2 and MBD1-4 with isothermal titration calorimetry-based binding assays, mutagenesis studies, and X-ray crystallography...
March 22, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29565043/human-cerebral-organoids-reveal-deficits-in-neurogenesis-and-neuronal-migration-in-mecp2-deficient-neural-progenitors
#15
N Mellios, D A Feldman, S D Sheridan, J P K Ip, S Kwok, S K Amoah, B Rosen, B A Rodriguez, B Crawford, R Swaminathan, S Chou, Y Li, M Ziats, C Ernst, R Jaenisch, S J Haggarty, M Sur
No abstract text is available yet for this article.
April 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29563495/neural-stem-cells-from-a-mouse-model-of-rett-syndrome-are-prone-to-senescence-show-reduced-capacity-to-cope-with-genotoxic-stress-and-are-impaired-in-the-differentiation-process
#16
Nicola Alessio, Francesco Riccitiello, Tiziana Squillaro, Stefania Capasso, Stefania Del Gaudio, Giovanni Di Bernardo, Marilena Cipollaro, Mariarosa A B Melone, Gianfranco Peluso, Umberto Galderisi
Several aspects of stem cell life are governed by epigenetic variations, such as DNA methylation, histone modifications, and chromatin remodeling. Epigenetic events are also connected with the impairment of stem cell functions. For example, during senescence, there are significant changes in chromatin organization that alter transcription. The MECP2 protein can bind methylated cytosines and contribute to regulating gene expression at one of the highest hierarchical levels. Researchers are particularly interested in this protein, as up to 90% of Rett syndrome patients have an MECP2 gene mutation...
March 22, 2018: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29562294/mecp2-deficiency-promotes-cell-reprogramming-by-stimulating-igf1-akt-mtor-signaling-and-activating-ribosomal-protein-mediated-cell-cycle-gene-translation
#17
Wei Zhang, Guihai Feng, Libin Wang, Fei Teng, Liu Wang, Wei Li, Ying Zhang, Qi Zhou
The generation of induced pluripotent stem cells (iPSCs) offers a great opportunity in research and regenerative medicine. The current poor efficiency and incomplete mechanistic understanding of the reprogramming process hampers the clinical application of iPSCs. MeCP2 connects histone modification and DNA methylation, which are key changes of somatic cell reprogramming. However, the role of MeCP2 in cell reprogramming has not been examined. In this study, we found that MeCP2 deficiency enhanced reprogramming efficiency and stimulated cell proliferation through regulating cell cycle protein expression in the early stage of reprogramming...
March 19, 2018: Journal of Molecular Cell Biology
https://www.readbyqxmd.com/read/29553562/pooled-shrna-screen-for-reactivation-of-mecp2-on-the-inactive-x-chromosome
#18
Vid Leko, Smitha Sripathy, Robin L Adrianse, Taylor Loe, Angela Park, Uyen Lao, Eric J Foss, Marisa S Bartolomei, Antonio Bedalov
Forward genetic screens using reporter genes inserted into the heterochromatin have been extensively used to investigate mechanisms of epigenetic control in model organisms. Technologies including short hairpin RNAs (shRNAs) and clustered regularly interspaced short palindromic repeats (CRISPR) have enabled such screens in diploid mammalian cells. Here we describe a large-scale shRNA screen for regulators of X-chromosome inactivation (XCI), using a murine cell line with firefly luciferase and hygromycin resistance genes knocked in at the C-terminus of the methyl CpG binding protein 2 (MeCP2) gene on the inactive X-chromosome (Xi)...
March 2, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29544889/a-novel-stxbp1-mutation-causes-typical-rett-syndrome-in-a-japanese-girl
#19
Kotaro Yuge, Kazuhiro Iwama, Chihiro Yonee, Mayumi Matsufuji, Nozomi Sano, Tomoko Saikusa, Yukako Yae, Yushiro Yamashita, Takeshi Mizuguchi, Naomichi Matsumoto, Toyojiro Matsuishi
Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age...
March 12, 2018: Brain & Development
https://www.readbyqxmd.com/read/29540297/mecp2-overexpression-inhibits-proliferation-migration-and-invasion-of-c6-glioma-by-modulating-erk-signaling-and-gene-expression
#20
Kedarlal Sharma, JuhiSingh, Emma E Frost, Prakash P Pillai
MethylCpG binding protein-2 (MeCP2) is an epigenetic regulator and essential for brain development.MeCP2 mutations are associated with a spectrum of neuro-developmental disorders that vary depending on the patient gender, most notably Rett Syndrome. MeCP2 is essential for normal neuronal maturation, and glial cell function in the brain. Besides, its role in neurodevelopmental disorders, MeCP2 is involved in many cancers such as breast, colorectal, lung, liver, and prostate cancer. Glioma is the most lethal form of brain cancer...
March 11, 2018: Neuroscience Letters
keyword
keyword
4664
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"