Literature DB >> 23985682

Cholesterol metabolism and Rett syndrome pathogenesis.

Gabor Nagy, Susan L Ackerman.   

Abstract

Rett syndrome is caused by mutations in the gene encoding the transcriptional regulator MECP2. A new study demonstrates that cholesterol homeostasis is disrupted in Mecp2 mutant mice and suggests new therapeutic options for this disease.

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Year:  2013        PMID： 23985682     DOI： 10.1038/ng.2738

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  14 in total

Review 1.  Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized.

Authors:  Thierry Bienvenu; Jamel Chelly
Journal:  Nat Rev Genet       Date:  2006-06       Impact factor: 53.242

2.  Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

Authors:  R E Amir; I B Van den Veyver; M Wan; C Q Tran; U Francke; H Y Zoghbi
Journal:  Nat Genet       Date:  1999-10       Impact factor: 38.330

3.  The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1.

Authors:  Weidong Li; Yijun Cui; Steven A Kushner; Robert A M Brown; J David Jentsch; Paul W Frankland; Tyrone D Cannon; Alcino J Silva
Journal:  Curr Biol       Date:  2005-11-08       Impact factor: 10.834

Review 4.  Potential role of nonstatin cholesterol lowering agents.

Authors:  Laura Trapani; Marco Segatto; Paolo Ascenzi; Valentina Pallottini
Journal:  IUBMB Life       Date:  2011-10-12       Impact factor: 3.885

Review 5.  The story of Rett syndrome: from clinic to neurobiology.

Authors:  Maria Chahrour; Huda Y Zoghbi
Journal:  Neuron       Date:  2007-11-08       Impact factor: 17.173

Review 6.  Regulation of mevalonate metabolism in cancer and immune cells.

Authors:  Martin Thurnher; Georg Gruenbacher; Oliver Nussbaumer
Journal:  Biochim Biophys Acta       Date:  2013-03-21

Review 7.  Molecular genetics of ubiquinone biosynthesis in animals.

Authors:  Ying Wang; Siegfried Hekimi
Journal:  Crit Rev Biochem Mol Biol       Date:  2012-11-29       Impact factor: 8.250

8.  Lovastatin corrects excess protein synthesis and prevents epileptogenesis in a mouse model of fragile X syndrome.

Authors:  Emily K Osterweil; Shih-Chieh Chuang; Alexander A Chubykin; Michael Sidorov; Riccardo Bianchi; Robert K S Wong; Mark F Bear
Journal:  Neuron       Date:  2013-01-23       Impact factor: 17.173

9.  MeCP2, a key contributor to neurological disease, activates and represses transcription.

Authors:  Maria Chahrour; Sung Yun Jung; Chad Shaw; Xiaobo Zhou; Stephen T C Wong; Jun Qin; Huda Y Zoghbi
Journal:  Science       Date:  2008-05-30       Impact factor: 47.728

10.  A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome.

Authors:  Christie M Buchovecky; Stephen D Turley; Hannah M Brown; Stephanie M Kyle; Jeffrey G McDonald; Benny Liu; Andrew A Pieper; Wenhui Huang; David M Katz; David W Russell; Jay Shendure; Monica J Justice
Journal:  Nat Genet       Date:  2013-07-28       Impact factor: 38.330
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  6 in total

1.  Suppression of brain cholesterol synthesis in male Mecp2-deficient mice is age dependent and not accompanied by a concurrent change in the rate of fatty acid synthesis.

Authors:  Adam M Lopez; Jen-Chieh Chuang; Kenneth S Posey; Stephen D Turley
Journal:  Brain Res       Date:  2016-10-24       Impact factor: 3.252

2.  Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome.

Authors:  Claudio De Felice; Floriana Della Ragione; Cinzia Signorini; Silvia Leoncini; Alessandra Pecorelli; Lucia Ciccoli; Francesco Scalabrì; Federico Marracino; Michele Madonna; Giuseppe Belmonte; Laura Ricceri; Bianca De Filippis; Giovanni Laviola; Giuseppe Valacchi; Thierry Durand; Jean-Marie Galano; Camille Oger; Alexandre Guy; Valérie Bultel-Poncé; Jacky Guy; Stefania Filosa; Joussef Hayek; Maurizio D'Esposito
Journal:  Neurobiol Dis       Date:  2014-04-24       Impact factor: 5.996

3.  Cholesterol metabolism is altered in Rett syndrome: a study on plasma and primary cultured fibroblasts derived from patients.

Authors:  Marco Segatto; Laura Trapani; Ilenia Di Tunno; Claudia Sticozzi; Giuseppe Valacchi; Joussef Hayek; Valentina Pallottini
Journal:  PLoS One       Date:  2014-08-12       Impact factor: 3.240

4.  Cholesterol in the Pathogenesis of Alzheimer's, Parkinson's Diseases and Autism: Link to Synaptic Dysfunction.

Authors:  A M Petrov; M R Kasimov; A L Zefirov
Journal:  Acta Naturae       Date:  2017 Jan-Mar       Impact factor: 1.845

5.  Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome.

Authors:  Martina Zandl-Lang; Thomas Züllig; Martin Trötzmüller; Yvonne Naegelin; Lucia Abela; Bernd Wilken; Sabine Scholl-Buergi; Daniela Karall; Ludwig Kappos; Harald Köfeler; Barbara Plecko
Journal:  Metabolites       Date:  2022-03-25

6.  Lipid rafts: a signaling platform linking cholesterol metabolism to synaptic deficits in autism spectrum disorders.

Authors:  Hansen Wang
Journal:  Front Behav Neurosci       Date:  2014-03-27       Impact factor: 3.558
  6 in total

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