Rett syndrome: disruption of epigenetic control of postnatal neurological functions (Q28088283)

language of work or name

1 reference

15 October 2015

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published in

Human Molecular Genetics

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volume

24

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issue

R1

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page(s)

R10-6

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Rett syndrome: revised diagnostic criteria and nomenclature

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Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor

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Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice

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Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

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MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome

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A BDNF loop-domain mimetic acutely reverses spontaneous apneas and respiratory abnormalities during behavioral arousal in a mouse model of Rett syndrome

29 September 2017

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Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice

29 September 2017

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Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett Syndrome

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An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders

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29 September 2017

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Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies

29 September 2017

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Targeted manipulation of heterochromatin rescues MeCP2 Rett mutants and re-establishes higher order chromatin organization.

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MECP2 Duplication Syndrome

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Binding of the Rett syndrome protein, MeCP2, to methylated and unmethylated DNA and chromatin.

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