Literature DB >> 27716498

Rett Syndrome and the Ongoing Legacy of Close Clinical Observation.

Huda Y Zoghbi1.   

Abstract

This year marks the 50th anniversary of the publication of Andreas Rett's report on 22 girls who developed a peculiar and devastating neurological disorder that later came to bear his name. On this occasion, we reflect on the progress that has occurred in understanding Rett Syndrome, development of potential treatments, and the ramifications that Rett research has had on the fields of neurobiology and genetics.
Copyright © 2016 Elsevier Inc. All rights reserved.

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Year:  2016        PMID: 27716498     DOI: 10.1016/j.cell.2016.09.039

Source DB:  PubMed          Journal:  Cell        ISSN: 0092-8674            Impact factor:   41.582


  15 in total

1.  Trichostatin A decreases the levels of MeCP2 expression and phosphorylation and increases its chromatin binding affinity.

Authors:  Katrina V Good; Alexia Martínez de Paz; Monica Tyagi; Manjinder S Cheema; Anita A Thambirajah; Taylor L Gretzinger; Gilda Stefanelli; Robert L Chow; Oliver Krupke; Michael Hendzel; Kristal Missiaen; Alan Underhill; Nicoletta Landsberger; Juan Ausió
Journal:  Epigenetics       Date:  2017-12-05       Impact factor: 4.528

Review 2.  Neuropharmacological Insight from Allosteric Modulation of mGlu Receptors.

Authors:  Branden J Stansley; P Jeffrey Conn
Journal:  Trends Pharmacol Sci       Date:  2019-02-26       Impact factor: 14.819

3.  Loss of O-GlcNAcylation on MeCP2 at Threonine 203 Leads to Neurodevelopmental Disorders.

Authors:  Juanxian Cheng; Zhe Zhao; Liping Chen; Ying Li; Ruijing Du; Yan Wu; Qian Zhu; Ming Fan; Xiaotao Duan; Haitao Wu
Journal:  Neurosci Bull       Date:  2021-11-12       Impact factor: 5.203

Review 4.  Nuclear and Cytoplasmatic Players in Mitochondria-Related CNS Disorders: Chromatin Modifications and Subcellular Trafficking.

Authors:  Matteo Gasparotto; Yi-Shin Lee; Alessandra Palazzi; Marcella Vacca; Francesco Filippini
Journal:  Biomolecules       Date:  2022-04-23

Review 5.  The dawn of non-human primate models for neurodevelopmental disorders.

Authors:  Tomomi Aida; Guoping Feng
Journal:  Curr Opin Genet Dev       Date:  2020-07-18       Impact factor: 5.578

6.  Clinical presentation of Rett syndrome in relation to quality of life and family functioning.

Authors:  Anna Rozensztrauch; Agnieszka Sebzda; Robert Śmigiel
Journal:  J Int Med Res       Date:  2021-04       Impact factor: 1.671

7.  Development of the Tailored Rett Intervention and Assessment Longitudinal (TRIAL) database and the Rett Evaluation of Symptoms and Treatments (REST) Questionnaire.

Authors:  Paramala Santosh; Kate Lievesley; Federico Fiori; Jatinder Singh
Journal:  BMJ Open       Date:  2017-06-21       Impact factor: 2.692

8.  FoxG1 regulates the formation of cortical GABAergic circuit during an early postnatal critical period resulting in autism spectrum disorder-like phenotypes.

Authors:  Goichi Miyoshi; Yoshifumi Ueta; Akiyo Natsubori; Kou Hiraga; Hironobu Osaki; Yuki Yagasaki; Yusuke Kishi; Yuchio Yanagawa; Gord Fishell; Robert P Machold; Mariko Miyata
Journal:  Nat Commun       Date:  2021-06-18       Impact factor: 14.919

9.  Loss of MECP2 Leads to Activation of P53 and Neuronal Senescence.

Authors:  Minori Ohashi; Elena Korsakova; Denise Allen; Peiyee Lee; Kai Fu; Benni S Vargas; Jessica Cinkornpumin; Carlos Salas; Jenny C Park; Igal Germanguz; Justin Langerman; Contantinos Chronis; Edward Kuoy; Stephen Tran; Xinshu Xiao; Matteo Pellegrini; Kathrin Plath; William E Lowry
Journal:  Stem Cell Reports       Date:  2018-05-08       Impact factor: 7.765

Review 10.  The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis.

Authors:  Laura A Lavery; Huda Y Zoghbi
Journal:  Curr Opin Neurobiol       Date:  2019-09-19       Impact factor: 6.627

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