Rett Syndrome: Crossing the Threshold to Clinical Translation (Q26772909)

Europe PubMed Central

title

Rett Syndrome: Crossing the Threshold to Clinical Translation (English)

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Debashish U Menon

5

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Adrian Peter Bird

object named as

Adrian Bird

2

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author name string

David M Katz

1

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Monica Coenraads

3

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Steven J Gray

4

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Benjamin D Philpot

6

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Daniel C Tarquinio

7

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language of work or name

English

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publication date

February 2016

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published in

Trends in Neurosciences

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To edit or not to edit: regulation of ADAR editing specificity and efficiency

volume

39

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issue

2

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page(s)

100-13

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cites work

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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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Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice

7 April 2017

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

7 April 2017

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Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

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

7 April 2017

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CpG islands and the regulation of transcription

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The story of Rett syndrome: from clinic to neurobiology

7 April 2017

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Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA

7 April 2017

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MeCP2 suppresses nuclear microRNA processing and dendritic growth by regulating the DGCR8/Drosha complex

7 April 2017

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Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations

7 April 2017

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Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome

7 April 2017

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MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin

7 April 2017

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

7 April 2017

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Reversal of neurological defects in a mouse model of Rett syndrome

7 April 2017

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7 April 2017

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

28 September 2017

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28 September 2017

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

28 September 2017

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Rett syndrome: a complex disorder with simple roots

28 September 2017

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Mechanisms of Functional Hypoconnectivity in the Medial Prefrontal Cortex of Mecp2 Null Mice.

28 September 2017

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28 September 2017

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BDNF release is required for the behavioral actions of ketamine

28 September 2017

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28 September 2017

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

28 September 2017

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28 September 2017

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

28 September 2017

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28 September 2017

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

28 September 2017

1 reference

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Therapeutics based on stop codon readthrough

28 September 2017

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MeCP2: the long trip from a chromatin protein to neurological disorders

28 September 2017

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

28 September 2017

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Effects of ω-3 PUFAs supplementation on myocardial function and oxidative stress markers in typical Rett syndrome

28 September 2017

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Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Distribution, recognition and regulation of non-CpG methylation in the adult mammalian brain

28 September 2017

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Recent Progress in Rett Syndrome and MeCP2 Dysfunction: Assessment of Potential Treatment Options

28 September 2017

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Strategies for postmarketing surveillance of drugs for rare diseases.

28 September 2017

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

28 September 2017

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Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients

28 September 2017

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

28 September 2017

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Intragenic DNA methylation modulates alternative splicing by recruiting MeCP2 to promote exon recognition

28 September 2017

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Breathing challenges in Rett syndrome: lessons learned from humans and animal models.

28 September 2017

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28 September 2017

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28 September 2017

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

28 September 2017

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The relationship of Rett syndrome and MECP2 disorders to autism.

28 September 2017

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28 September 2017

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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

28 September 2017

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Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice.

28 September 2017

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Rett syndrome treatment in mouse models: searching for effective targets and strategies.

28 September 2017

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Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows

28 September 2017

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Partial rescue of Rett syndrome by ω-3 polyunsaturated fatty acids (PUFAs) oil

28 September 2017

1 reference

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Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome

28 September 2017

1 reference

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Rett syndrome: from bed to bench.

28 September 2017

1 reference

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Evolution and roles of stanniocalcin

28 September 2017

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MeCP2 and Rett syndrome: reversibility and potential avenues for therapy.

28 September 2017

1 reference

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Synaptic microcircuit dysfunction in genetic models of neurodevelopmental disorders: focus on Mecp2 and Met.

28 September 2017

1 reference

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Preclinical differences of intravascular AAV9 delivery to neurons and glia: a comparative study of adult mice and nonhuman primates

28 September 2017

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

28 September 2017

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

28 September 2017

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Clinical Trials and Rare Diseases

28 September 2017

1 reference

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Epilepsy and the natural history of Rett syndrome.

28 September 2017

1 reference

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

28 September 2017

1 reference

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Synaptic circuit abnormalities of motor-frontal layer 2/3 pyramidal neurons in a mutant mouse model of Rett syndrome

28 September 2017

1 reference

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Breathing disorders in Rett syndrome: progressive neurochemical dysfunction in the respiratory network after birth

28 September 2017

1 reference

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

28 September 2017

1 reference

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Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons

28 September 2017

1 reference

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A study of the treatment of Rett syndrome with folate and betaine

28 September 2017

1 reference

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Mouse models of Rett syndrome: from behavioural phenotyping to preclinical evaluation of new therapeutic approaches

28 September 2017

1 reference

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

28 September 2017

1 reference

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Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

28 September 2017

1 reference

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Efficient ways exist to obtain the optimal sample size in clinical trials in rare diseases.

28 September 2017

1 reference

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Rett syndrome in Australia: a review of the epidemiology.

28 September 2017

1 reference

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Oxidative damage to methyl-CpG sequences inhibits the binding of the methyl-CpG binding domain (MBD) of methyl-CpG binding protein 2 (MeCP2).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

The advantages and disadvantages of adaptive designs for clinical trials

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

The neurobiology of Rett syndrome

28 September 2017

1 reference

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Clinical manifestations and stages of Rett syndrome

28 September 2017

1 reference

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Development of amino acid receptors in frontal cortex from girls with Rett syndrome

28 September 2017

1 reference

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Rett syndrome: randomized controlled trial of L-carnitine

28 September 2017

1 reference

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On a unusual brain atrophy syndrome in hyperammonemia in childhood

28 September 2017

1 reference

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Rett syndrome and associated movement disorders

28 September 2017

1 reference

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IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients

28 September 2017

1 reference

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Adult neural function requires MeCP2.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Exogenous brain-derived neurotrophic factor rescues synaptic dysfunction in Mecp2-null mice

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Intact long-term potentiation but reduced connectivity between neocortical layer 5 pyramidal neurons in a mouse model of Rett syndrome

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

The MeCP2-null mouse hippocampus displays altered basal inhibitory rhythms and is prone to hyperexcitability.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Rett syndrome: controlled study of an oral opiate antagonist, naltrexone

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Therapeutic effects of a ketogenic diet in Rett syndrome

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Altered neurochemical markers in Rett's syndrome

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Chronic Administration of the N-Methyl-D-Aspartate Receptor Antagonist Ketamine Improves Rett Syndrome Phenotype

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Communication intervention in Rett syndrome: a survey of speech language pathologists in Swedish health services

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Methylation-dependent and -independent genomic targeting principles of the MBD protein family.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Oxidative stress in Rett syndrome: natural history, genotype, and variants.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Effects of creatine supplementation in Rett syndrome: a randomized, placebo-controlled trial.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Losing inhibition with ketamine

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Ketamine differentially blocks sensory afferent synaptic transmission in medial nucleus tractus solitarius (mNTS).

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Rett syndrome in Spain: mutation analysis and clinical correlations

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Medium-term open label trial of L-carnitine in Rett syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Neurobiology of Rett syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

A double blind trial of bromocriptine in the Rett syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4924590

Clinical and electroencephalographic effects of folinic acid treatment in Rett syndrome patients

28 November 2018

1 reference

12 December 2020

Neuropathology of Rett syndrome

1 reference

12 December 2020

Folinic acid supplementation in Rett syndrome patients does not influence the course of the disease: a randomized study

1 reference

12 December 2020

Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA

1 reference

12 December 2020

F4-neuroprostanes mediate neurological severity in Rett syndrome

1 reference

12 December 2020