Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder-Reference-Cited by-同舟云学术

Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder

Published:2019-01-12 Issue:2 Volume:142 Page:239-248
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Banerjee Abhishek¹,Miller Meghan T²,Li Keji³,Sur Mriganka³,Kaufmann Walter E⁴

Affiliation:

1. Laboratory of Neural Circuit Dynamics, Brain Research Institute, University of Zürich, Zürich, Switzerland

2. Roche Pharma Research and Early Development, Roche Innovation Center, F. Hoffman-La Roche, Basel, Switzerland

3. Department of Brain and Cognitive Sciences, Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge MA, USA

4. Department of Human Genetics, Emory University School of Medicine, Atlanta GA, USA

Abstract

Fifty years after the first publication on Rett syndrome, Banerjee et al. review the molecular, cellular and circuit neurobiology of the disorder. They summarize recent advances in therapeutic interventions explored in preclinical models, as well as lessons learnt from past clinical trials and how these might inform future therapeutic approaches.

Funder

NIH

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/142/2/239/31622493/awy323.pdf

Reference109 articles.

1. Deficiency of GABAergic synaptic inhibition in the Kölliker-Fuse area underlies respiratory dysrhythmia in a mouse model of Rett syndrome;Abdala;J Physiol,2016

2. Acadia Pharmaceuticals and Neuran Pharmaceuticals. ACADIA Pharmaceuticals and Neuren Pharmaceuticals announce exclusive License Agreement for the North American development and commercialization of Trofinetide in Rett syndrome. 2018. www.neurenpharma.com/irm/PDF/1759_0/NeurenandACADIAannounceagreementforNorthAmerica (29 August 2018, date last accessed).

3. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2;Amir;Nat Genet,1999

4. Anavex Life Sciences Corp. Anavex Life Sciences to initiate Phase 2 study of ANAVEX®2–73 in Parkinson’s disease Dementia and provides clinical study update for ANAVEX®2–73 in Rett syndrome. 2018. https://www.anavex.com/anavex-life-sciences-initiate-phase-2-study-anavex2–73-parkinsons-disease-dementia-provides-clinical-study-update-anavex2–73-rett-syndrome/ (29 August 2018, date last accessed).

5. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation;Archer;J Med Genet,2007

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