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Neurotherapeutics
Published in: Neurotherapeutics 3/2015

01-07-2015 | Review

Rett Syndrome: Reaching for Clinical Trials

Authors: Lucas Pozzo-Miller, Sandipan Pati, Alan K. Percy

Published in: Neurotherapeutics | Issue 3/2015

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Abstract

Rett syndrome (RTT) is a syndromic autism spectrum disorder caused by loss-of-function mutations in MECP2. The methyl CpG binding protein 2 binds methylcytosine and 5-hydroxymethycytosine at CpG sites in promoter regions of target genes, controlling their transcription by recruiting co-repressors and co-activators. Several preclinical studies in mouse models have identified rational molecular targets for drug therapies aimed at correcting the underlying neural dysfunction. These targeted therapies are increasingly translating into human clinical trials. In this review, we present an overview of RTT and describe the current state of preclinical studies in methyl CpG binding protein 2-based mouse models, as well as current clinical trials in individuals with RTT.
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Metadata
Title
Rett Syndrome: Reaching for Clinical Trials
Authors
Lucas Pozzo-Miller
Sandipan Pati
Alan K. Percy
Publication date
01-07-2015
Publisher
Springer US
Published in
Neurotherapeutics / Issue 3/2015
Print ISSN: 1933-7213
Electronic ISSN: 1878-7479
DOI
https://doi.org/10.1007/s13311-015-0353-y

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