Abstract:
:Rett syndrome (RTT) is one of the most common causes of intellectual and developmental disabilities in girls, and is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Here we will review our current understanding of RTT, the landscape of pathogenic mutations and function of MeCP2, and culminate with recent advances elucidating the distinct DNA methylation landscape in the brain that may explain why disease symptoms are delayed and selective to the nervous system.
journal_name
Curr Opin Neurobioljournal_title
Current opinion in neurobiologyauthors
Lavery LA,Zoghbi HYdoi
10.1016/j.conb.2019.08.001subject
Has Abstractpub_date
2019-12-01 00:00:00pages
180-188eissn
0959-4388issn
1873-6882pii
S0959-4388(19)30063-7journal_volume
59pub_type
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journal_title:Current opinion in neurobiology
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journal_title:Current opinion in neurobiology
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journal_title:Current opinion in neurobiology
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journal_title:Current opinion in neurobiology
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journal_title:Current opinion in neurobiology
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journal_title:Current opinion in neurobiology
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journal_title:Current opinion in neurobiology
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journal_title:Current opinion in neurobiology
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journal_title:Current opinion in neurobiology
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