Rett syndrome: insights into genetic, molecular and circuit mechanisms (Q88609435)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29740174%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

title

Rett syndrome: insights into genetic, molecular and circuit mechanisms (English)

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26 March 2020

0 references

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26 March 2020

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26 March 2020

Nikolaos Mellios

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26 March 2020

publication date

1 June 2018

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Nature Reviews Neuroscience

26 March 2020

published in

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26 March 2020

volume

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26 March 2020

issue

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26 March 2020

page(s)

368-382

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The story of Rett syndrome: from clinic to neurobiology

26 March 2020

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A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

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Progressive Changes in a Distributed Neural Circuit Underlie Breathing Abnormalities in Mice Lacking MeCP2.

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Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

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Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

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A role for glia in the progression of Rett's syndrome

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Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice

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Delayed maturation of neuronal architecture and synaptogenesis in cerebral cortex of Mecp2-deficient mice

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Mecp2 deficiency leads to delayed maturation and altered gene expression in hippocampal neurons

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7 January 2021

Communication between the synapse and the nucleus in neuronal development, plasticity, and disease

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Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders

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Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation

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MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions

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Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome.

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Developmental delay in Rett syndrome: data from the natural history study

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7 January 2021

MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling

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Defects During Mecp2 Null Embryonic Cortex Development Precede the Onset of Overt Neurological Symptoms.

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Neuronal differentiation of neural precursor cells is promoted by the methyl-CpG-binding protein MeCP2.

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A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos

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Reversal of neurological defects in a mouse model of Rett syndrome

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Reading the unique DNA methylation landscape of the brain: Non-CpG methylation, hydroxymethylation, and MeCP2.

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MeCP2 recognizes cytosine methylated tri-nucleotide and di-nucleotide sequences to tune transcription in the mammalian brain.

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7 January 2021

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Disruption of DNA-methylation-dependent long gene repression in Rett syndrome

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7 January 2021

DNA methylation in the gene body influences MeCP2-mediated gene repression

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7 January 2021

Early-Life Gene Expression in Neurons Modulates Lasting Epigenetic States

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7 January 2021

MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system.

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7 January 2021

5-hydroxymethylcytosine accumulation in postmitotic neurons results in functional demethylation of expressed genes.

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7 January 2021

Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state.

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7 January 2021

MeCP2 mutations: progress towards understanding and treating Rett syndrome

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7 January 2021

Cell-type-specific repression by methyl-CpG-binding protein 2 is biased toward long genes

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7 January 2021

Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome.

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7 January 2021

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

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7 January 2021

Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders

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7 January 2021

Radically truncated MeCP2 rescues Rett syndrome-like neurological defects.

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7 January 2021

Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR.

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7 January 2021

Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus

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7 January 2021

Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain

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7 January 2021

Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons

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7 January 2021

Histone deacetylase 3 associates with MeCP2 to regulate FOXO and social behavior.

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7 January 2021

The landscape of DNA methylation amid a perfect storm of autism aetiologies.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation

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7 January 2021

The widespread regulation of microRNA biogenesis, function and decay

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7 January 2021

The Emerging Role of microRNAs in Schizophrenia and Autism Spectrum Disorders

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7 January 2021

Genome-wide analysis reveals methyl-CpG-binding protein 2-dependent regulation of microRNAs in a mouse model of Rett syndrome

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7 January 2021

Disrupted microRNA expression caused by Mecp2 loss in a mouse model of Rett syndrome

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7 January 2021

β2-Adrenergic receptor agonist ameliorates phenotypes and corrects microRNA-mediated IGF1 deficits in a mouse model of Rett syndrome

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7 January 2021

Homeostatic regulation of MeCP2 expression by a CREB-induced microRNA

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7 January 2021

MeCP2-dependent repression of an imprinted miR-184 released by depolarization

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7 January 2021

Inhibition of miR-15a Promotes BDNF Expression and Rescues Dendritic Maturation Deficits in MeCP2-Deficient Neurons

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7 January 2021

Cross talk between microRNA and epigenetic regulation in adult neurogenesis

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7 January 2021

Differential methylation of the micro-RNA 7b gene targets postnatal maturation of murine neuronal Mecp2 gene expression

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7 January 2021

MicroRNA miR-137 regulates neuronal maturation by targeting ubiquitin ligase mind bomb-1

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7 January 2021

SMAD proteins control DROSHA-mediated microRNA maturation

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7 January 2021

Loss of activity-induced phosphorylation of MeCP2 enhances synaptogenesis, LTP and spatial memory

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7 January 2021

Dual regulation of miRNA biogenesis generates target specificity in neurotrophin-induced protein synthesis

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7 January 2021

Lin28A and Lin28B inhibit let-7 microRNA biogenesis by distinct mechanisms.

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7 January 2021

Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p

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7 January 2021

MECP2 Is Post-transcriptionally Regulated during Human Neurodevelopment by Combinatorial Action of RNA-Binding Proteins and miRNAs

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7 January 2021

MiR-130a regulates neurite outgrowth and dendritic spine density by targeting MeCP2

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7 January 2021

MeCP2 controls BDNF expression and cocaine intake through homeostatic interactions with microRNA-212.

1 reference

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7 January 2021

Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome

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7 January 2021

MeCP2-dependent transcriptional repression regulates excitatory neurotransmission

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7 January 2021

Jointly reduced inhibition and excitation underlies circuit-wide changes in cortical processing in Rett syndrome

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7 January 2021

Excitation/inhibition imbalance and impaired synaptic inhibition in hippocampal area CA3 of Mecp2 knockout mice

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7 January 2021

Pathophysiology of locus ceruleus neurons in a mouse model of Rett syndrome

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7 January 2021

Correction of respiratory disorders in a mouse model of Rett syndrome.

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7 January 2021

Early defects of GABAergic synapses in the brain stem of a MeCP2 mouse model of Rett syndrome.

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7 January 2021

Brain activity mapping in Mecp2 mutant mice reveals functional deficits in forebrain circuits, including key nodes in the default mode network, that are reversed with ketamine treatment

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7 January 2021

Network hyperexcitability in hippocampal slices from Mecp2 mutant mice revealed by voltage-sensitive dye imaging.

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7 January 2021

Epigenomic Signatures of Neuronal Diversity in the Mammalian Brain

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7 January 2021

NMDA receptor regulation prevents regression of visual cortical function in the absence of Mecp2.

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome.

1 reference

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7 January 2021

Three groups of interneurons account for nearly 100% of neocortical GABAergic neurons

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Interneuron cell types are fit to function

1 reference

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7 January 2021

Mechanisms of inhibition within the telencephalon: "where the wild things are".

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Inhibition of inhibition in visual cortex: the logic of connections between molecularly distinct interneurons

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

A neural circuit for spatial summation in visual cortex

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Unique functional properties of somatostatin-expressing GABAergic neurons in mouse barrel cortex.

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

A disinhibitory circuit mediates motor integration in the somatosensory cortex.

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Gain control by layer six in cortical circuits of vision

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Equalizing excitation-inhibition ratios across visual cortical neurons

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

MeCP2 regulates the timing of critical period plasticity that shapes functional connectivity in primary visual cortex

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Cell-Specific Regulation of N-Methyl-D-Aspartate Receptor Maturation by Mecp2 in Cortical Circuits.

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Conditional deletion of Mecp2 in parvalbumin-expressing GABAergic cells results in the absence of critical period plasticity

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

KCC2 rescues functional deficits in human neurons derived from patients with Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Cation-chloride cotransporters and neuronal function

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Cation-chloride cotransporters in neuronal development, plasticity and disease

1 reference

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7 January 2021

NKCC1 Chloride Importer Antagonists Attenuate Many Neurological and Psychiatric Disorders

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7 January 2021

The developmental switch in GABA polarity is delayed in fragile X mice.

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome

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https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

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

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7 January 2021

Insulin-like growth factor 1 and a cytosolic tyrosine kinase activate chloride outward transport during maturation of hippocampal neurons.

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7 January 2021

The emergence of functional microcircuits in visual cortex.

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https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Development and plasticity of the primary visual cortex

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Subtype-specific plasticity of inhibitory circuits in motor cortex during motor learning.

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Branch-specific dendritic Ca(2+) spikes cause persistent synaptic plasticity

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Labelling and optical erasure of synaptic memory traces in the motor cortex

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Homeostatic plasticity in the developing nervous system

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Mechanisms of plasticity in the developing and adult visual cortex

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

A biological function for the neuronal activity-dependent component of Bdnf transcription in the development of cortical inhibition

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

A metaplasticity view of the interaction between homeostatic and Hebbian plasticity.

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Activity-dependent neuronal signalling and autism spectrum disorder

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

A critical and cell-autonomous role for MeCP2 in synaptic scaling up

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

The Rett syndrome protein MeCP2 regulates synaptic scaling

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

MeCP2 phosphorylation is required for modulating synaptic scaling through mGluR5.

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Experience-dependent retinogeniculate synapse remodeling is abnormal in MeCP2-deficient mice

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Molecular mechanisms of experience-dependent plasticity in visual cortex

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Perspective: Enforce the clinical guidelines.

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-like phenotypes.

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Modeling Rett Syndrome Using TALEN-Edited MECP2 Mutant Cynomolgus Monkeys

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

BDNF deregulation in Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Rett Syndrome: Crossing the Threshold to Clinical Translation

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

BDNF induces transport of PSD-95 to dendrites through PI3K-AKT signaling after NMDA receptor activation

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Comparative signaling pathways of insulin-like growth factor-1 and brain-derived neurotrophic factor in hippocampal neurons and the role of the PI3 kinase pathway in cell survival

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations.

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Disease modeling using embryonic stem cells: MeCP2 regulates nuclear size and RNA synthesis in neurons

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Cerebral organoids model human brain development and microcephaly

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Cell diversity and network dynamics in photosensitive human brain organoids.

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

The use of brain organoids to investigate neural development and disease

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Loss and Gain of MeCP2 Cause Similar Hippocampal Circuit Dysfunction that Is Rescued by Deep Brain Stimulation in a Rett Syndrome Mouse Model

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Mechanism of Deep Brain Stimulation: Inhibition, Excitation, or Disruption?

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Screen for reactivation of MeCP2 on the inactive X chromosome identifies the BMP/TGF-β superfamily as a regulator of XIST expression.

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

A mixed modality approach towards Xi reactivation for Rett syndrome and other X-linked disorders.

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Site-directed RNA repair of endogenous Mecp2 RNA in neurons

1 reference

https://api.crossref.org/works/10.1038%2FS41583-018-0006-3

7 January 2021

Selective dendritic alterations in the cortex of Rett syndrome

1 reference

12 December 2020

PSD-95 involvement in maturation of excitatory synapses

1 reference

12 December 2020

Postsynaptic signaling and plasticity mechanisms

1 reference

12 December 2020

Division and subtraction by distinct cortical inhibitory networks in vivo

1 reference

12 December 2020

Refuting the challenges of the developmental shift of polarity of GABA actions: GABA more exciting than ever!

1 reference

12 December 2020

The relationship of Rett syndrome and MECP2 disorders to autism.

1 reference

12 December 2020

Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides

1 reference

12 December 2020

10.1038/S41583-018-0006-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29740174%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29740174%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

PubMed publication ID

29740174

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29740174%20AND%20SRC:MED&resulttype=core&format=json