Literature DB >> 28255957

Epigenetic Mistakes in Neurodevelopmental Disorders.

Giuseppina Mastrototaro1, Mattia Zaghi1, Alessandro Sessa2.   

Abstract

Epigenetics is the array of the chromatin modifications that customize in cell-, stage-, or condition-specific manner the information encloses in plain DNA molecules. Increasing evidences suggest the importance of epigenetic mechanisms for development and maintenance of central nervous system. In fact, a large number of newly discovered genetic causes of neurodevelopmental disorders such as intellectual disability, autism spectrum disorders, and many other syndromes are mutations within genes encoding for chromatin remodeling enzymes. Here, we review recent findings on the epigenetic origin of human diseases, with emphasis on disorders that affect development of the nervous system, and discuss novel therapeutic avenues that target epigenetic mechanisms.

Entities:  

Keywords:  Epigenetics; Intellectual disability; Neurodevelopmental disorders

Mesh:

Year:  2017        PMID: 28255957     DOI: 10.1007/s12031-017-0900-6

Source DB:  PubMed          Journal:  J Mol Neurosci        ISSN: 0895-8696            Impact factor:   3.444


  136 in total

1.  Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

Authors:  N Miyake; Y Tsurusaki; E Koshimizu; N Okamoto; T Kosho; N J Brown; T Y Tan; P J J Yap; H Suzumura; T Tanaka; T Nagai; M Nakashima; H Saitsu; N Niikawa; N Matsumoto
Journal:  Clin Genet       Date:  2015-04-14       Impact factor: 4.438

2.  Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.

Authors:  Nobuhiko Okamoto; Yasuhisa Toribe; Keiko Shimojima; Toshiyuki Yamamoto
Journal:  Am J Med Genet A       Date:  2016-02-11       Impact factor: 2.802

3.  Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma.

Authors:  María Berdasco; Santiago Ropero; Fernando Setien; Mario F Fraga; Pablo Lapunzina; Régine Losson; Miguel Alaminos; Nai-Kong Cheung; Nazneen Rahman; Manel Esteller
Journal:  Proc Natl Acad Sci U S A       Date:  2009-12-14       Impact factor: 11.205

4.  A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation.

Authors:  Y Kuroki; Y Suzuki; H Chyo; A Hata; I Matsui
Journal:  J Pediatr       Date:  1981-10       Impact factor: 4.406

5.  Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.

Authors:  N Niikawa; N Matsuura; Y Fukushima; T Ohsawa; T Kajii
Journal:  J Pediatr       Date:  1981-10       Impact factor: 4.406

Review 6.  The role of MeCP2 in the brain.

Authors:  Jacky Guy; Hélène Cheval; Jim Selfridge; Adrian Bird
Journal:  Annu Rev Cell Dev Biol       Date:  2011-06-29       Impact factor: 13.827

7.  Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.

Authors:  Erik Engelen; Umut Akinci; Jan Christian Bryne; Jun Hou; Cristina Gontan; Maaike Moen; Dorota Szumska; Christel Kockx; Wilfred van Ijcken; Dick H W Dekkers; Jeroen Demmers; Erik-Jan Rijkers; Shoumo Bhattacharya; Sjaak Philipsen; Larysa H Pevny; Frank G Grosveld; Robbert J Rottier; Boris Lenhard; Raymond A Poot
Journal:  Nat Genet       Date:  2011-05-01       Impact factor: 38.330

8.  DNA methyltransferase 3A promotes cell proliferation by silencing CDK inhibitor p18INK4C in gastric carcinogenesis.

Authors:  He Cui; Chengcheng Zhao; Pihai Gong; Ling Wang; Huazhang Wu; Kun Zhang; Rongping Zhou; Li Wang; Ting Zhang; Sheng Zhong; Hong Fan
Journal:  Sci Rep       Date:  2015-09-09       Impact factor: 4.379

9.  Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

Authors:  Dalila Pinto; Elsa Delaby; Daniele Merico; Mafalda Barbosa; Alison Merikangas; Lambertus Klei; Bhooma Thiruvahindrapuram; Xiao Xu; Robert Ziman; Zhuozhi Wang; Jacob A S Vorstman; Ann Thompson; Regina Regan; Marion Pilorge; Giovanna Pellecchia; Alistair T Pagnamenta; Bárbara Oliveira; Christian R Marshall; Tiago R Magalhaes; Jennifer K Lowe; Jennifer L Howe; Anthony J Griswold; John Gilbert; Eftichia Duketis; Beth A Dombroski; Maretha V De Jonge; Michael Cuccaro; Emily L Crawford; Catarina T Correia; Judith Conroy; Inês C Conceição; Andreas G Chiocchetti; Jillian P Casey; Guiqing Cai; Christelle Cabrol; Nadia Bolshakova; Elena Bacchelli; Richard Anney; Steven Gallinger; Michelle Cotterchio; Graham Casey; Lonnie Zwaigenbaum; Kerstin Wittemeyer; Kirsty Wing; Simon Wallace; Herman van Engeland; Ana Tryfon; Susanne Thomson; Latha Soorya; Bernadette Rogé; Wendy Roberts; Fritz Poustka; Susana Mouga; Nancy Minshew; L Alison McInnes; Susan G McGrew; Catherine Lord; Marion Leboyer; Ann S Le Couteur; Alexander Kolevzon; Patricia Jiménez González; Suma Jacob; Richard Holt; Stephen Guter; Jonathan Green; Andrew Green; Christopher Gillberg; Bridget A Fernandez; Frederico Duque; Richard Delorme; Geraldine Dawson; Pauline Chaste; Cátia Café; Sean Brennan; Thomas Bourgeron; Patrick F Bolton; Sven Bölte; Raphael Bernier; Gillian Baird; Anthony J Bailey; Evdokia Anagnostou; Joana Almeida; Ellen M Wijsman; Veronica J Vieland; Astrid M Vicente; Gerard D Schellenberg; Margaret Pericak-Vance; Andrew D Paterson; Jeremy R Parr; Guiomar Oliveira; John I Nurnberger; Anthony P Monaco; Elena Maestrini; Sabine M Klauck; Hakon Hakonarson; Jonathan L Haines; Daniel H Geschwind; Christine M Freitag; Susan E Folstein; Sean Ennis; Hilary Coon; Agatino Battaglia; Peter Szatmari; James S Sutcliffe; Joachim Hallmayer; Michael Gill; Edwin H Cook; Joseph D Buxbaum; Bernie Devlin; Louise Gallagher; Catalina Betancur; Stephen W Scherer
Journal:  Am J Hum Genet       Date:  2014-04-24       Impact factor: 11.025

10.  Role of chromodomain helicase DNA-binding protein 2 in DNA damage response signaling and tumorigenesis.

Authors:  P Nagarajan; T M Onami; S Rajagopalan; S Kania; R Donnell; S Venkatachalam
Journal:  Oncogene       Date:  2009-01-12       Impact factor: 9.867

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  8 in total

Review 1.  Gene regulatory mechanisms underlying sex differences in brain development and psychiatric disease.

Authors:  Devanand S Manoli; Jessica Tollkuhn
Journal:  Ann N Y Acad Sci       Date:  2018-01-24       Impact factor: 5.691

2.  Epigenome profiling and editing of neocortical progenitor cells during development.

Authors:  Mareike Albert; Nereo Kalebic; Marta Florio; Naharajan Lakshmanaperumal; Christiane Haffner; Holger Brandl; Ian Henry; Wieland B Huttner
Journal:  EMBO J       Date:  2017-08-01       Impact factor: 11.598

Review 3.  Epigenetic Effect of Maternal Methyl-Group Donor Intake on Offspring's Health and Disease.

Authors:  Szilvia Bokor; Réka A Vass; Simone Funke; Tibor Ertl; Dénes Molnár
Journal:  Life (Basel)       Date:  2022-04-19

4.  The Epigenetic State of PRDM16-Regulated Enhancers in Radial Glia Controls Cortical Neuron Position.

Authors:  José-Manuel Baizabal; Meeta Mistry; Miguel Turrero García; Nicolás Gómez; Olubusola Olukoya; Diana Tran; Matthew B Johnson; Christopher A Walsh; Corey C Harwell
Journal:  Neuron       Date:  2018-05-17       Impact factor: 17.173

5.  Chd2 Is Necessary for Neural Circuit Development and Long-Term Memory.

Authors:  Young J Kim; Sattar Khoshkhoo; Jan C Frankowski; Bingyao Zhu; Saad Abbasi; Sunyoung Lee; Ye Emily Wu; Robert F Hunt
Journal:  Neuron       Date:  2018-10-18       Impact factor: 17.173

Review 6.  Chromatin Remodeling Complex NuRD in Neurodevelopment and Neurodevelopmental Disorders.

Authors:  Anke Hoffmann; Dietmar Spengler
Journal:  Front Genet       Date:  2019-07-24       Impact factor: 4.599

Review 7.  Maternal One-Carbon Metabolism during the Periconceptional Period and Human Foetal Brain Growth: A Systematic Review.

Authors:  Eleonora Rubini; Inge M M Baijens; Alex Horánszky; Sam Schoenmakers; Kevin D Sinclair; Melinda Zana; András Dinnyés; Régine P M Steegers-Theunissen; Melek Rousian
Journal:  Genes (Basel)       Date:  2021-10-17       Impact factor: 4.096

8.  Association between the Use of Folic Acid Supplements during Pregnancy and Children's Cognitive Function at 7-9 Years of Age in the INMA Cohort Study.

Authors:  Laura María Compañ-Gabucio; Laura Torres-Collado; Manuela Garcia-de la Hera; Ana Fernández-Somoano; Adonina Tardón; Jordi Julvez; Jordi Sunyer; Marisa Rebagliato; Mario Murcia; Jesús Ibarluzea; Loreto Santa-Marina; Jesús Vioque
Journal:  Int J Environ Res Public Health       Date:  2022-09-25       Impact factor: 4.614

  8 in total

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