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https://www.readbyqxmd.com/read/29019980/radically-truncated-mecp2-rescues-rett-syndrome-like-neurological-defects
#1
Rebekah Tillotson, Jim Selfridge, Martha V Koerner, Kamal K E Gadalla, Jacky Guy, Dina De Sousa, Ralph D Hector, Stuart R Cobb, Adrian Bird
Heterozygous mutations in the X-linked MECP2 gene cause the neurological disorder Rett syndrome. The methyl-CpG-binding protein 2 (MeCP2) protein is an epigenetic reader whose binding to chromatin primarily depends on 5-methylcytosine. Functionally, MeCP2 has been implicated in several cellular processes on the basis of its reported interaction with more than 40 binding partners, including transcriptional co-repressors (for example, the NCoR/SMRT complex), transcriptional activators, RNA, chromatin remodellers, microRNA-processing proteins and splicing factors...
October 11, 2017: Nature
https://www.readbyqxmd.com/read/28993314/mecp2-regulates-tnfa-during-zebrafish-embryonic-development-and-acute-inflammation
#2
M van der Vaart, O Svoboda, B G Weijts, R Espín-Palazón, V Sapp, T Pietri, M Bagnat, A R Muotri, D Traver
Mutations in MECP2 cause Rett syndrome, a severe neurological disorder with autism-like features. Duplication of MECP2 also causes severe neuropathology. Both diseases display immunological abnormalities that suggest a role for MeCP2 in controlling immune and inflammatory responses. Here, we used mecp2-null zebrafish to study the potential function of Mecp2 as an immunological regulator. Mecp2-deficiency resulted in an increase in neutrophil infiltration and upregulated expression of the pro- and anti-inflammatory cytokines Il1b and Il10 as a secondary response to disturbances in tissue homeostasis...
October 9, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28992061/glp-inhibits-heterochromatin-clustering-and-myogenic-differentiation-by-repressing-mecp2
#3
Min Hee Choi, Monica Palanichamy Kala, Jin Rong Ow, Vinay Kumar Rao, Sudha Suriyamurthy, Reshma Taneja
Myogenic differentiation is accompanied by alterations in the chromatin states, which permit or restrict the transcriptional machinery and thus impact distinctive gene expression profiles. The mechanisms by which higher-order chromatin remodeling is associated with gene activation and silencing during differentiation is not fully understood. In this study, we provide evidence that the euchromatic lysine methyltransferase GLP regulates heterochromatin organization and myogenic differentiation. Interestingly, GLP represses expression of the methyl-binding protein MeCP2 that induces heterochromatin clustering during differentiation...
August 23, 2017: Journal of Molecular Cell Biology
https://www.readbyqxmd.com/read/28990703/effects-of-maternal-separation-and-antidepressant-drug-on-epigenetic-regulation-of-the-bdnf-exon-i-promoter-in-the-adult-rat-hippocampus
#4
Mi Kyoung Seo, Jung Goo Lee, Le Thi Hien, Sung Woo Park, Young Hoon Kim
AIM: Early life stress can induce epigenetic changes through genetic and environmental interactions and is a risk factor for depression. Brain-derived neurotrophic factor (BDNF) has been implicated in the pathophysiology of depression and antidepressant drug action. We investigated epigenetic changes at the BDNF exon I promoter in the hippocampus of adult rats subjected to maternal separation (MS) during early life and treated with an antidepressant drug as adults. METHODS: Rat pups were subjected to MS from postnatal day 1 to 21 and received chronic escitalopram (ESC) as adults...
October 9, 2017: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28985210/engineering-mecp2-to-spy-on-its-targets
#5
Patricia M Horvath, Lisa M Monteggia
No abstract text is available yet for this article.
October 6, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28973632/mecp2-isoform-n-terminal-modifications-affect-its-degradation-rate-and-are-disrupted-by-the-ala2val-rett-mutation
#6
Taimoor I Sheikh, Alexia Martínez de Paz, Shamim Akhtar, Juan Ausió, John B Vincent
Methyl CpG-binding protein 2 (MeCP2), the mutated protein in Rett syndrome (RTT), is a crucial chromatin-modifying and gene-regulatory protein that has two main isoforms (MeCP2_E1 and MeCP2_ E2) due to the alternative splicing and switching between translation start codons in exons one and two. Functionally, these two isoforms appear to be virtually identical; however, evidence suggests that only MeCP2_E1 is relevant to RTT, including a single RTT missense mutation in exon 1, Ala2Val. Here, we show that N-terminal co- and post-translational modifications differ for MeCP2_E1 and MeCP2_E1-Ala2Val, which result in different protein degradation rates in vitro...
July 27, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28969435/patterns-of-sedentary-time-and-ambulatory-physical-activity-in-a-danish-population-of-girls-and-women-with-rett-syndrome
#7
Michelle Stahlhut, Jenny Downs, Mette Aadahl, Helen Leonard, Anne-Marie Bisgaard, Eva Nordmark
BACKGROUND: Rett syndrome (RTT) is a rare neurodevelopmental disorder leading to multiple disabilities and high dependency on caregivers. This study aimed to: (1) describe the patterns of sedentary time and daily steps and (2) identify the association of individual and environmental characteristics with sedentary time. METHODS: All Danish females with RTT older than 5 years of age and with a MECP2 mutation were invited to participate. The activPAL and StepWatch Activity Monitor (SAM) were worn by participants for at least four days...
October 2, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28961504/deciphering-mecp2-associated-disorders-disrupted-circuits-and-the-hope-for-repair
#8
REVIEW
Zilong Qiu
MECP2 is a critical gene for neural development, mutations or duplication of which led to severe neurodevelopmental disorders, such as Rett syndrome (RTT) and autism spectrum disorders (ASD). Extensive works during the past decade yield ample insights into the molecular and cellular functions of MeCP2 in neural development. Furthermore, genetic manipulations in Mecp2 mouse models strongly suggested that deficiency in synaptic plasticity and various behaviors of Mecp2 null or transgenic mice could be rescued in adulthood...
September 26, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28951555/retention-of-mitochondria-in-mature-human-red-blood-cells-as-the-result-of-autophagy-impairment-in-rett-syndrome
#9
Diego Sbardella, Grazia Raffaella Tundo, Luisa Campagnolo, Giuseppe Valacchi, Augusto Orlandi, Paolo Curatolo, Giovanna Borsellino, Maurizio D'Esposito, Chiara Ciaccio, Silvia Di Cesare, Donato Di Pierro, Cinzia Galasso, Marta Elena Santarone, Joussef Hayek, Massimiliano Coletta, Stefano Marini
Rett Syndrome (RTT), which affects approximately 1:10.000 live births, is a X-linked pervasive neuro-developmental disorder which is caused, in the vast majority of cases, by a sporadic mutation in the Methyl-CpG-binding protein-2 (MeCP2) gene. This is a transcriptional activator/repressor with presumed pleiotropic activities. The broad tissue expression of MeCP2 suggests that it may be involved in several metabolic pathways, but the molecular mechanisms which provoke the onset and progression of the syndrome are largely unknown...
September 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28947817/the-utility-of-next-generation-sequencing-for-molecular-diagnostics-in-rett-syndrome
#10
Silvia Vidal, Núria Brandi, Paola Pacheco, Edgar Gerotina, Laura Blasco, Jean-Rémi Trotta, Sophia Derdak, Maria Del Mar O'Callaghan, Àngels Garcia-Cazorla, Mercè Pineda, Judith Armstrong
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients still remains unknown. Recently, next generation sequencing (NGS) has promoted genetic diagnoses because of the quickness and affordability of the method. To evaluate the usefulness of NGS in genetic diagnosis, we present the genetic study of RTT-like patients using different techniques based on this technology...
September 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28938254/antibiotic-prophylaxis-immunoglobulin-substitution-and-supportive-measures-prevent-infections-in-mecp2-duplication-syndrome
#11
Michael Bauer, Renate Krüger, Uwe Kölsch, Nadine Unterwalder, Christian Meisel, Volker Wahn, Horst von Bernuth
Respiratory infections are the main cause of early death in patients with MECP2 duplication syndrome. We report on a 20-year-old patient with MECP2 duplication syndrome, IgG2/IgG4/IgA/IgM-deficiency and polysaccharide-specific-antibody-deficiency, who had 46 episodes of pneumonia in his first 13 years of life. Immunoglobulin substitution, daily antibiotic prophylaxis with two agents and supportive measures reduced occurrence of pneumonia to 4 episodes in the following 6 years of life.
September 20, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28931890/pathogenesis-of-lethal-aspiration-pneumonia-in-mecp2-null-mouse-model-for-rett-syndrome
#12
Hiroshi Kida, Tomoyuki Takahashi, Yuki Nakamura, Takashi Kinoshita, Munetsugu Hara, Masaki Okamoto, Satoko Okayama, Keiichiro Nakamura, Ken-Ichiro Kosai, Takayuki Taniwaki, Yushiro Yamashita, Toyojiro Matsuishi
Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the gene encoding the transcriptional regulator Methyl-CpG-binding protein 2 (MeCP2), located on the X chromosome. Many RTT patients have breathing abnormalities, such as apnea and breathing irregularity, and respiratory infection is the most common cause of death in these individuals. Previous studies showed that MeCP2 is highly expressed in the lung, but its role in pulmonary function remains unknown. In this study, we found that MeCP2 deficiency affects pulmonary gene expression and structures...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28927958/defective-gabaergic-neurotransmission-in-the-nucleus-tractus-solitarius-in-mecp2-null-mice-a-model-of-rett-syndrome
#13
Chao-Yin Chen, Jacopo Di Lucente, Yen-Chu Lin, Cheng-Chang Lien, Michael A Rogawski, Izumi Maezawa, Lee-Way Jin
Rett syndrome (RTT) is a devastating neurodevelopmental disorder caused by loss-of-function mutations in the X-linked methyl-CpG binding protein 2 (Mecp2) gene. GABAergic dysfunction has been implicated contributing to the respiratory dysfunction, one major clinical feature of RTT. The nucleus tractus solitarius (NTS) is the first central site integrating respiratory sensory information that can change the nature of the reflex output. We hypothesized that deficiency in Mecp2 gene reduces GABAergic neurotransmission in the NTS...
September 18, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28920956/biotin-tagging-of-mecp2-in-mice-reveals-contextual-insights-into-the-rett-syndrome-transcriptome
#14
Brian S Johnson, Ying-Tao Zhao, Maria Fasolino, Janine M Lamonica, Yoon Jung Kim, George Georgakilas, Kathleen H Wood, Daniel Bu, Yue Cui, Darren Goffin, Golnaz Vahedi, Tae Hoon Kim, Zhaolan Zhou
Mutations in MECP2 cause Rett syndrome (RTT), an X-linked neurological disorder characterized by regressive loss of neurodevelopmental milestones and acquired psychomotor deficits. However, the cellular heterogeneity of the brain impedes an understanding of how MECP2 mutations contribute to RTT. Here we developed a Cre-inducible method for cell-type-specific biotin tagging of MeCP2 in mice. Combining this approach with an allelic series of knock-in mice carrying frequent RTT-associated mutations (encoding T158M and R106W) enabled the selective profiling of RTT-associated nuclear transcriptomes in excitatory and inhibitory cortical neurons...
October 2017: Nature Medicine
https://www.readbyqxmd.com/read/28894505/increased-mitochondrial-mass-and-cytosolic-redox-imbalance-in-hippocampal-astrocytes-of-a-mouse-model-of-rett-syndrome-subcellular-changes-revealed-by-ratiometric-imaging-of-jc-1-and-rogfp1-fluorescence
#15
Dörthe F Bebensee, Karolina Can, Michael Müller
Rett syndrome (RTT) is a neurodevelopmental disorder with mutations in the MECP2 gene. Mostly girls are affected, and an apparently normal development is followed by cognitive impairment, motor dysfunction, epilepsy, and irregular breathing. Various indications suggest mitochondrial dysfunction. In Rett mice, brain ATP levels are reduced, mitochondria are leaking protons, and respiratory complexes are dysregulated. Furthermore, we found in MeCP2-deficient mouse (Mecp2(-/y) ) hippocampus an intensified mitochondrial metabolism and ROS generation...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28870827/distinguishing-response-to-names-in-rett-and-mecp2-duplication-syndrome-an-erp-study-of-auditory-social-information-processing
#16
Sarika U Peters, Ashley Katzenstein, Dorita Jones, Alexandra P Key
Despite significant advances at the level of basic research, the characterization of higher-level processes in Rett and MECP2 Duplication syndrome remains understudied. In this pilot study, we assessed social-emotional information processing by testing whether children (ages 4-12years) with Rett (n=9) and MECP2 Duplication syndrome (n=7) distinguished their own spoken name from other names. We hypothesized that own and familiar names would elicit more positive parietal P300 responses than unknown names, and that the groups would have different neural responses to these stimuli...
November 15, 2017: Brain Research
https://www.readbyqxmd.com/read/28857161/structural-and-functional-differences-in-the-barrel-cortex-of-mecp2-null-mice
#17
Li-Jen Lee, Vassiliy Tsytsarev, Reha S Erzurumlu
Functional deficits in sensory systems are commonly noted in neurodevelopmental disorders, such as the Rett syndrome (RTT). Defects in methyl CpG binding protein gene (MECP2) largely accounts for RTT. Manipulations of the Mecp2 gene in mice provide useful models to probe into various aspects of brain development associated with the RTT. In this study, we focused on the somatosensory cortical phenotype in the Bird mouse model of RTT. We used voltage-sensitive dye imaging to evaluate whisker sensory evoked activity in the barrel cortex of mice...
December 15, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28856709/gabbr2-mutations-determine-phenotype-in-rett-syndrome-and-epileptic-encephalopathy
#18
Yongjin Yoo, Jane Jung, Yoo-Na Lee, Youngha Lee, Hyosuk Cho, Eunjung Na, JeaYeok Hong, Eunjin Kim, Jin Sook Lee, Je Sang Lee, Chansik Hong, Sang-Yoon Park, Jinhong Wie, Kathryn Miller, Natasha Shur, Cheryl Clow, Roseànne S Ebel, Suzanne D DeBrosse, Lindsay B Henderson, Rebecca Willaert, Christopher Castaldi, Irina Tikhonova, Kaya Bilgüvar, Shrikant Mane, Ki Joong Kim, Yong Seung Hwang, Seok-Geun Lee, Insuk So, Byung Chan Lim, Hee-Jung Choi, Jae Young Seong, Yong Beom Shin, Hosung Jung, Jong-Hee Chae, Murim Choi
OBJECTIVE: Rett syndrome (RTT) and epileptic encephalopathy (EE) are devastating neurodevelopmental disorders with distinct diagnostic criteria. However, highly heterogeneous and overlapping clinical features often allocate patients into the boundary of the two conditions, complicating accurate diagnosis and appropriate medical interventions. Therefore, we investigated the specific molecular mechanism that allows an understanding of the pathogenesis and relationship of these two conditions...
September 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28837158/high-frequency-of-mosaic-pathogenic-variants-in-genes-causing-epilepsy-related-neurodevelopmental-disorders
#19
Mary Beth Stosser, Amanda S Lindy, Elizabeth Butler, Kyle Retterer, Caitlin M Piccirillo-Stosser, Gabriele Richard, Dianalee A McKnight
PurposeMosaicism probably represents an underreported cause of genetic disorders due to detection challenges during routine molecular diagnostics. The purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epilepsy-related neurodevelopmental disorders.MethodsWe conducted a retrospective analysis of 893 probands with epilepsy who had a multigene epilepsy panel or whole-exome sequencing performed in a clinical diagnostic laboratory and were positive for a pathogenic or likely pathogenic variant in one of nine genes (CDKL5, GABRA1, GABRG2, GRIN2B, KCNQ2, MECP2, PCDH19, SCN1A, or SCN2A)...
August 24, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28835516/an-rna-interference-screen-identifies-druggable-regulators-of-mecp2-stability
#20
Laura M Lombardi, Manar Zaghlula, Yehezkel Sztainberg, Steven A Baker, Tiemo J Klisch, Amy A Tang, Eric J Huang, Huda Y Zoghbi
Alterations in gene dosage due to copy number variation are associated with autism spectrum disorder, intellectual disability (ID), and other psychiatric disorders. The nervous system is so acutely sensitive to the dose of methyl-CpG-binding protein 2 (MeCP2) that even a twofold change in MeCP2 protein-either increased or decreased-results in distinct disorders with overlapping features including ID, autistic behavior, and severe motor dysfunction. Rett syndrome is caused by loss-of-function mutations in MECP2, whereas duplications spanning the MECP2 locus result in MECP2 duplication syndrome (MDS), which accounts for ~1% of X-linked ID...
August 23, 2017: Science Translational Medicine
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