نتایج جستجو برای: ژن mecp2

تعداد نتایج: 17535  

Journal: :Brain research. Developmental brain research 2004
Louise E Coverdale Christopher J Martyniuk Vance L Trudeau C Cristofre Martin

Epigenetic gene repression occurs as the result of the interactions between DNA and a number of proteins, including methyl-cytosine binding protein 2 (MeCP2). We have isolated a 1680 bps MeCP2 cDNA from zebrafish that shows deduced amino acid identity with Xenopus and mammalian MeCP2alpha protein sequences. The zebrafish MeCP2 gene was mapped to linkage group 8 using the LN54 radiation hybrid c...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2017
John R Sinnamon Susan Y Kim Glen M Corson Zhen Song Hiroyuki Nakai John P Adelman Gail Mandel

Rett syndrome (RTT) is a debilitating neurological disorder caused by mutations in the gene encoding the transcription factor Methyl CpG Binding Protein 2 (MECP2). A distinct disorder results from MECP2 gene duplication, suggesting that therapeutic approaches must restore close to normal levels of MECP2. Here, we apply the approach of site-directed RNA editing to repair, at the mRNA level, a di...

2015
Somnath Pandey Glenn E. Simmons Svitlana Malyarchuk Tara N. Calhoun Kevin Pruitt

Methyl-CpG-binding protein-2 (MeCP2) regulates gene expression by recruiting SWI/SNF DNA helicase/ATPase (ATRX) and Histone Deacetylase-1 (HDAC1) to methylated gene regions and modulates heterochromatin association by interacting with Heterochromatin protein-1. As MeCP2 contributes to tumor suppressor gene silencing and its mutation causes Rett Syndrome, we investigated how novel post-translati...

2016
Cinzia Signorini Claudio De Felice Silvia Leoncini Rikke S. Møller Gloria Zollo Sabrina Buoni Alessio Cortelazzo Roberto Guerranti Thierry Durand Lucia Ciccoli Maurizio D’Esposito Kirstine Ravn Joussef Hayek

Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) are neurodevelopmental disorders caused by alterations in the methyl-CpG binding protein 2 (MECP2) gene expression. A relationship between MECP2 loss-of-function mutations and oxidative stress has been previously documented in RTT patients and murine models. To date, no data on oxidative stress have been reported for the MECP2 gain-of-fun...

2013
Paolo Petazzi Juan Sandoval Karolina Szczesna Olga C. Jorge Laura Roa Sergi Sayols Antonio Gomez Dori Huertas Manel Esteller

Mecp2 is a transcriptional repressor protein that is mutated in Rett syndrome, a neurodevelopmental disorder that is the second most common cause of mental retardation in women. It has been shown that the loss of the Mecp2 protein in Rett syndrome cells alters the transcriptional silencing of coding genes and microRNAs. Herein, we have studied the impact of Mecp2 impairment in a Rett syndrome m...

Journal: :American journal of medical genetics. Part A 2005
Tero Ylisaukko-Oja Karola Rehnström Raija Vanhala Elli Kempas Harriet von Koskull Carola Tengström Aki Mustonen Katrin Ounap Jaana Lähdetie Irma Järvelä

Mutations in the methyl-CpG-binding protein 2 (MECP2) gene are known to underlie Rett' syndrome, the most common cause of mental retardation (MR) in girls. Since the original report, phenotypes resulting from MECP2 mutations have been shown to extend, for example, to several Rett variants, autism, atypical Angelman syndrome, and nonspecific MR. It was earlier proposed that MECP2 mutations might...

Journal: :The Journal of comparative neurology 2007
Joanna M Dragich Yong-Hwan Kim Arthur P Arnold N Carolyn Schanen

Mutations in the gene encoding methyl CpG binding protein 2 (MeCP2) are the primary cause of the neurodevelopmental disorder Rett syndrome (RTT). Mecp2-deficient mice develop a neurological phenotype that recapitulates many of the symptoms of RTT, including postnatal onset of the neurological deficits. MeCP2 has two isoforms, MeCP2e1 and MeCP2e2, with distinct amino termini, which are generated...

Journal: :The Journal of clinical investigation 2015
Navasona Krishnan Keerthi Krishnan Christopher R Connors Meng S Choy Rebecca Page Wolfgang Peti Linda Van Aelst Stephen D Shea Nicholas K Tonks

The X-linked neurological disorder Rett syndrome (RTT) presents with autistic features and is caused primarily by mutations in a transcriptional regulator, methyl CpG-binding protein 2 (MECP2). Current treatment options for RTT are limited to alleviating some neurological symptoms; hence, more effective therapeutic strategies are needed. We identified the protein tyrosine phosphatase PTP1B as a...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2012
Ashley N Hutchinson Jay V Deng Sonia Cohen Anne E West

Although tricyclic antidepressants rapidly activate monoaminergic neurotransmission, these drugs must be administered chronically to alleviate symptoms of depression. This observation suggests that molecular mechanisms downstream of monoamine receptor activation, which include the induction of gene transcription, underlie chronic antidepressant-induced changes in behavior. Here we show that met...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2012
Minh Vu Chuong Nguyen Fang Du Christy A Felice Xiwei Shan Aparna Nigam Gail Mandel John K Robinson Nurit Ballas

Mutations in the X-linked gene, methyl-CpG binding protein 2 (Mecp2), underlie a wide range of neuropsychiatric disorders, most commonly, Rett Syndrome (RTT), a severe autism spectrum disorder that affects approximately one in 10,000 female live births. Because mutations in the Mecp2 gene occur in the germ cells with onset of neurological symptoms occurring in early childhood, the role of MeCP2...

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