The molecular pathology of Rett syndrome: synopsis and update (Q36617701)

15 August 2017

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title

The molecular pathology of Rett syndrome: synopsis and update (English)

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15 August 2017

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Schahram Akbarian

1

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15 August 2017

Yan Jiang

series ordinal

2

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15 August 2017

Genevieve Laforet

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3

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15 August 2017

1 January 2006

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15 August 2017

NeuroMolecular Medicine

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15 August 2017

8

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15 August 2017

4

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15 August 2017

485-494

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https://scigraph.springernature.com/pub.10.1385/nmm:8:4:485

15 August 2017

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cites work

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Methyl-CpG-binding protein, MeCP2, is a target molecule for maintenance DNA methyltransferase, Dnmt1

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12 December 2020

A transcriptional repressor MeCP2 causing Rett syndrome is expressed in embryonic non-neuronal cells and controls their growth

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12 December 2020

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

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12 December 2020

Suv39h-mediated histone H3 lysine 9 methylation directs DNA methylation to major satellite repeats at pericentric heterochromatin

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DNA binding selectivity of MeCP2 due to a requirement for A/T sequences adjacent to methyl-CpG.

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Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice

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

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The neurobiology of Rett syndrome

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The major form of MeCP2 has a novel N-terminus generated by alternative splicing

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Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification.

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The Ski protein family is required for MeCP2-mediated transcriptional repression

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Rett syndrome: clinical and molecular update

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Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation.

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Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

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Substance P immunoreactivity in Rett syndrome

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12 December 2020

DNA methylation specifies chromosomal localization of MeCP2.

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12 December 2020

Direct association between PU.1 and MeCP2 that recruits mSin3A-HDAC complex for PU.1-mediated transcriptional repression

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Clinical manifestations and stages of Rett syndrome

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Developmental expression of methyl-CpG binding protein 2 is dynamically regulated in the rodent brain

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Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.

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12 December 2020

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

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The methyl-CpG binding domain and the evolving role of DNA methylation in animals

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Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing

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Selective dendritic alterations in the cortex of Rett syndrome

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Neuroanatomy in Rett syndrome: cerebral cortex and posterior fossa

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Protein interactions targeting the latency-associated nuclear antigen of Kaposi's sarcoma-associated herpesvirus to cell chromosomes

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Clinical variability in Rett syndrome

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DNA Methylation-Related Chromatin Remodeling in Activity-Dependent Bdnf Gene Regulation

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

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

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12 December 2020

Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: an immunochemical study of subcellular fractions.

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12 December 2020

Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR).

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MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients

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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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12 December 2020

The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells

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12 December 2020

Rett syndrome: clinical manifestations in males with MECP2 mutations.

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A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

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The RNA binding protein YB-1 binds A/C-rich exon enhancers and stimulates splicing of the CD44 alternative exon v4.

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

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Methyl CpG-binding proteins induce large-scale chromatin reorganization during terminal differentiation

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Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation

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Spectrum of MECP2 mutations in Rett syndrome

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

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12 December 2020

WW and SH3 domains, two different scaffolds to recognize proline-rich ligands

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12 December 2020

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

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HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences

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12 December 2020

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.

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12 December 2020

Structural organization of mRNA complexes with major core mRNP protein YB-1.

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12 December 2020

Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2

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12 December 2020

Microscopic Observations of the Brain in Rett Syndrome

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12 December 2020

Serotonin transporter abnormality in the dorsal motor nucleus of the vagus in Rett syndrome: potential implications for clinical autonomic dysfunction

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12 December 2020

Components of the DNA methylation system of chromatin control are RNA-binding proteins

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12 December 2020

A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome

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12 December 2020

Expression pattern of the Rett syndrome gene MeCP2 in primate prefrontal cortex.

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12 December 2020

Organ growth in Rett syndrome: a postmortem examination analysis.

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12 December 2020

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2

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12 December 2020

Temporal and regional differences in the olfactory proteome as a consequence of MeCP2 deficiency

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12 December 2020

MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution

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12 December 2020

Neurobiology and neurochemistry of Rett syndrome

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12 December 2020

RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution

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12 December 2020

MeCP2 driven transcriptional repression in vitro: selectivity for methylated DNA, action at a distance and contacts with the basal transcription machinery

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12 December 2020

Guidelines for reporting clinical features in cases with MECP2 mutations.

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NMDA receptor-dependent refinement of somatotopic maps.

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12 December 2020

MECP2 mutation in a boy with language disorder and schizophrenia

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12 December 2020

Rett syndrome: clinical peculiarities and biological mysteries

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12 December 2020

Indications of centromere movement during interphase and differentiation

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12 December 2020

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

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12 December 2020

Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome

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12 December 2020

Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome

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12 December 2020

FBP WW domains and the Abl SH3 domain bind to a specific class of proline-rich ligands

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12 December 2020

The pattern of growth failure in Rett syndrome

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12 December 2020

Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

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12 December 2020

REST and its corepressors mediate plasticity of neuronal gene chromatin throughout neurogenesis.

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12 December 2020

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

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12 December 2020

Genetic basis of Rett syndrome

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12 December 2020

Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.

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12 December 2020

Nuclear topology of murine, cerebellar Purkinje neurons: changes as a function of development.

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12 December 2020

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

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12 December 2020

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

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12 December 2020

Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice

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12 December 2020

Identifiers

DOI

10.1385/NMM:8:4:485

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Dimensions Publication ID

15 August 2017

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