Literature DB >> 25732612

Rett syndrome: a complex disorder with simple roots.

Matthew J Lyst1, Adrian Bird1.   

Abstract

Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the X-linked gene MECP2 (methyl-CpG-binding protein 2). Two decades of research have fostered the view that MeCP2 is a multifunctional chromatin protein that integrates diverse aspects of neuronal biology. More recently, studies have focused on specific RTT-associated mutations within the protein. This work has yielded molecular insights into the critical functions of MeCP2 that promise to simplify our understanding of RTT pathology.

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Year:  2015        PMID: 25732612     DOI: 10.1038/nrg3897

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  146 in total

1.  Chicken MAR-binding protein ARBP is homologous to rat methyl-CpG-binding protein MeCP2.

Authors:  J M Weitzel; H Buhrmester; W H Strätling
Journal:  Mol Cell Biol       Date:  1997-09       Impact factor: 4.272

2.  Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome.

Authors:  Dag H Yasui; Michael L Gonzales; Justin O Aflatooni; Florence K Crary; Daniel J Hu; Bryant J Gavino; Mari S Golub; John B Vincent; N Carolyn Schanen; Carl O Olson; Mojgan Rastegar; Janine M Lasalle
Journal:  Hum Mol Genet       Date:  2013-12-18       Impact factor: 6.150

3.  [On a unusual brain atrophy syndrome in hyperammonemia in childhood].

Authors:  A Rett
Journal:  Wien Med Wochenschr       Date:  1966-09-10

4.  Unique physical properties and interactions of the domains of methylated DNA binding protein 2.

Authors:  Rajarshi P Ghosh; Tatiana Nikitina; Rachel A Horowitz-Scherer; Lila M Gierasch; Vladimir N Uversky; Kristopher Hite; Jeffrey C Hansen; Christopher L Woodcock
Journal:  Biochemistry       Date:  2010-05-25       Impact factor: 3.162

5.  Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3.

Authors:  Mona Shahbazian; Juan Young; Lisa Yuva-Paylor; Corinne Spencer; Barbara Antalffy; Jeffrey Noebels; Dawna Armstrong; Richard Paylor; Huda Zoghbi
Journal:  Neuron       Date:  2002-07-18       Impact factor: 17.173

6.  MeCP2-mediated transcription repression in the basolateral amygdala may underlie heightened anxiety in a mouse model of Rett syndrome.

Authors:  Megumi Adachi; Anita E Autry; Herb E Covington; Lisa M Monteggia
Journal:  J Neurosci       Date:  2009-04-01       Impact factor: 6.167

7.  Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice.

Authors:  Bredford Kerr; Matías Alvarez-Saavedra; Mauricio A Sáez; Alexandra Saona; Juan I Young
Journal:  Hum Mol Genet       Date:  2008-03-04       Impact factor: 6.150

8.  Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model.

Authors:  Sara Ricciardi; Elena M Boggio; Stefano Grosso; Giuseppina Lonetti; Greta Forlani; Gilda Stefanelli; Eleonora Calcagno; Noemi Morello; Nicoletta Landsberger; Stefano Biffo; Tommaso Pizzorusso; Maurizio Giustetto; Vania Broccoli
Journal:  Hum Mol Genet       Date:  2011-01-06       Impact factor: 6.150

9.  Recognition of 5-hydroxymethylcytosine by the Uhrf1 SRA domain.

Authors:  Carina Frauer; Thomas Hoffmann; Sebastian Bultmann; Valentina Casa; M Cristina Cardoso; Iris Antes; Heinrich Leonhardt
Journal:  PLoS One       Date:  2011-06-22       Impact factor: 3.240

10.  Intragenic DNA methylation modulates alternative splicing by recruiting MeCP2 to promote exon recognition.

Authors:  Alika K Maunakea; Iouri Chepelev; Kairong Cui; Keji Zhao
Journal:  Cell Res       Date:  2013-08-13       Impact factor: 25.617

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  140 in total

1.  Dysregulation of BRD4 Function Underlies the Functional Abnormalities of MeCP2 Mutant Neurons.

Authors:  Yangfei Xiang; Yoshiaki Tanaka; Benjamin Patterson; Sung-Min Hwang; Eriona Hysolli; Bilal Cakir; Kun-Yong Kim; Wanshan Wang; Young-Jin Kang; Ethan M Clement; Mei Zhong; Sang-Hun Lee; Yee Sook Cho; Prabir Patra; Gareth J Sullivan; Sherman M Weissman; In-Hyun Park
Journal:  Mol Cell       Date:  2020-06-10       Impact factor: 17.970

Review 2.  Drugging the methylome: DNA methylation and memory.

Authors:  Andrew J Kennedy; J David Sweatt
Journal:  Crit Rev Biochem Mol Biol       Date:  2016-02-25       Impact factor: 8.250

3.  Acute and crucial requirement for MeCP2 function upon transition from early to late adult stages of brain maturation.

Authors:  Fang Du; Minh Vu Chuong Nguyen; Ariel Karten; Christy A Felice; Gail Mandel; Nurit Ballas
Journal:  Hum Mol Genet       Date:  2016-02-16       Impact factor: 6.150

4.  Loss of MeCP2 in cholinergic neurons causes part of RTT-like phenotypes via α7 receptor in hippocampus.

Authors:  Ying Zhang; Shu-Xia Cao; Peng Sun; Hai-Yang He; Ci-Hang Yang; Xiao-Juan Chen; Chen-Jie Shen; Xiao-Dong Wang; Zhong Chen; Darwin K Berg; Shumin Duan; Xiao-Ming Li
Journal:  Cell Res       Date:  2016-04-22       Impact factor: 25.617

Review 5.  Animal and cellular models of familial dysautonomia.

Authors:  Frances Lefcort; Marc Mergy; Sarah B Ohlen; Yumi Ueki; Lynn George
Journal:  Clin Auton Res       Date:  2017-06-30       Impact factor: 4.435

6.  Autonomic dysfunction and sudden death in patients with Rett syndrome: a systematic review

Authors:  Jatinder Singh; Evamaria Lanzarini; Paramala Santosh
Journal:  J Psychiatry Neurosci       Date:  2020-05-01       Impact factor: 6.186

Review 7.  Decoding the non-coding genome: elucidating genetic risk outside the coding genome.

Authors:  C L Barr; V L Misener
Journal:  Genes Brain Behav       Date:  2016-01-04       Impact factor: 3.449

8.  Tsix-Mecp2 female mouse model for Rett syndrome reveals that low-level MECP2 expression extends life and improves neuromotor function.

Authors:  Lieselot L G Carrette; Roy Blum; Weiyuan Ma; Raymond J Kelleher; Jeannie T Lee
Journal:  Proc Natl Acad Sci U S A       Date:  2018-07-23       Impact factor: 11.205

9.  Gene Disrupting Mutations Associated with Regression in Autism Spectrum Disorder.

Authors:  Robin P Goin-Kochel; Sandy Trinh; Shelley Barber; Raphael Bernier
Journal:  J Autism Dev Disord       Date:  2017-11

Review 10.  Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links.

Authors:  S W Hulbert; Y-H Jiang
Journal:  Neuroscience       Date:  2015-12-28       Impact factor: 3.590

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