Rett syndrome: insights into genetic, molecular and circuit mechanisms

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

(2017) Janine M. Lamonica et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2017) N Mellios et al.   MOLECULAR PSYCHIATRY

Radically truncated MeCP2 rescues Rett syndrome-like neurological defects

(2017) Rebekah Tillotson et al.   NATURE

Cell diversity and network dynamics in photosensitive human brain organoids

(2017) Giorgia Quadrato et al.   NATURE

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

(2017) Brian S Johnson et al.   NATURE MEDICINE

The use of brain organoids to investigate neural development and disease

(2017) Elizabeth Di Lullo et al.   NATURE REVIEWS NEUROSCIENCE

A metaplasticity view of the interaction between homeostatic and Hebbian plasticity

(2017) Ada X. Yee et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

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

(2017) Lieselot L. G. Carrette et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2017) Smitha Sripathy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2017) Valdeko Kruusvee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Site-directed RNA repair of endogenous Mecp2 RNA in neurons

(2017) John R. Sinnamon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2017) Marian Mellén et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

NKCC1 Chloride Importer Antagonists Attenuate Many Neurological and Psychiatric Disorders

(2017) Yehezkel Ben-Ari   TRENDS IN NEUROSCIENCES

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

(2017) Sabine Lagger et al.   PLoS Genetics

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

(2016) Susanna B. Mierau et al.   BIOLOGICAL PSYCHIATRY

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

(2016) Surabi Veeraragavan et al.   HUMAN MOLECULAR GENETICS

Acute and crucial requirement for MeCP2 function upon transition from early to late adult stages of brain maturation

(2016) Fang Du et al.   HUMAN MOLECULAR GENETICS

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

(2016) T.-W. Huang et al.   JOURNAL OF NEUROSCIENCE

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

(2016) Alexi Nott et al.   NATURE NEUROSCIENCE

Clinical and biological progress over 50 years in Rett syndrome

(2016) Helen Leonard et al.   Nature Reviews Neurology

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

(2016) Annie Vogel Ciernia et al.   NATURE REVIEWS NEUROSCIENCE

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

(2016) Caitlin Mullins et al.   NEURON

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

(2016) Hui Lu et al.   NEURON

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

(2016) Xin Tang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2016) Abhishek Banerjee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2016) Benyam Kinde et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rett Syndrome: Crossing the Threshold to Clinical Translation

(2016) David M. Katz et al.   TRENDS IN NEUROSCIENCES

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

(2016) Deivid C. Rodrigues et al.   Cell Reports

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

(2016) Yunjia Zhang et al.   Protein & Cell

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

(2016) Xiangling Meng et al.   eLife

Microglia contribute to circuit defects in Mecp2 null mice independent of microglia-specific loss of Mecp2 expression

(2016) Dorothy P Schafer et al.   eLife

Visual evoked potentials detect cortical processing deficits in Rett syndrome

(2015) Jocelyn J. LeBlanc et al.   ANNALS OF NEUROLOGY

Defects DuringMecp2Null Embryonic Cortex Development Precede the Onset of Overt Neurological Symptoms

(2015) Francesco Bedogni et al.   CEREBRAL CORTEX

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

(2015) Kyla Brown et al.   HUMAN MOLECULAR GENETICS

Mecp2 regulates neural cell differentiation by suppressing the Id1 to Her2 axis in zebrafish

(2015) H. Gao et al.   JOURNAL OF CELL SCIENCE

Perspective: Enforce the clinical guidelines

(2015) Monique Roobol   NATURE

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

(2015) Akiko Hayashi-Takagi et al.   NATURE

Branch-specific dendritic Ca2+ spikes cause persistent synaptic plasticity

(2015) Joseph Cichon et al.   NATURE

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

(2015) Harrison W. Gabel et al.   NATURE

Wild-type microglia do not reverse pathology in mouse models of Rett syndrome

(2015) Jieqi Wang et al.   NATURE

Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice

(2015) Shuang Hao et al.   NATURE

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

(2015) Simon X Chen et al.   NATURE NEUROSCIENCE

Rett syndrome: a complex disorder with simple roots

(2015) Matthew J. Lyst et al.   NATURE REVIEWS GENETICS

Epigenomic Signatures of Neuronal Diversity in the Mammalian Brain

(2015) Alisa Mo et al.   NEURON

Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders

(2015) Sacha B. Nelson et al.   NEURON

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

(2015) Aya Ito-Ishida et al.   NEURON

Mechanism of Deep Brain Stimulation

(2015) Satomi Chiken et al.   NEUROSCIENTIST

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

(2015) Keerthi Krishnan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2015) Benyam Kinde et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2015) M. Sahin et al.   SCIENCE

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

(2015) Yu Gao et al.   STEM CELLS

MeCP2 Suppresses Nuclear MicroRNA Processing and Dendritic Growth by Regulating the DGCR8/Drosha Complex

(2014) Tian-Lin Cheng et al.   DEVELOPMENTAL CELL

Excitation/inhibition imbalance and impaired synaptic inhibition in hippocampal area CA3 ofMecp2knockout mice

(2014) Gaston Calfa et al.   HIPPOCAMPUS

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

(2014) Emily Cunningham Williams et al.   HUMAN MOLECULAR GENETICS

Cell-Type-Specific Repression by Methyl-CpG-Binding Protein 2 Is Biased toward Long Genes

(2014) K. Sugino et al.   JOURNAL OF NEUROSCIENCE

The Developmental Switch in GABA Polarity Is Delayed in Fragile X Mice

(2014) Q. He et al.   JOURNAL OF NEUROSCIENCE

Equalizing excitation–inhibition ratios across visual cortical neurons

(2014) Mingshan Xue et al.   NATURE

Interneuron cell types are fit to function

(2014) Adam Kepecs et al.   NATURE

In vivo interrogation of gene function in the mammalian brain using CRISPR-Cas9

(2014) Lukasz Swiech et al.   NATURE BIOTECHNOLOGY

Cation-chloride cotransporters in neuronal development, plasticity and disease

(2014) Kai Kaila et al.   NATURE REVIEWS NEUROSCIENCE

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

(2014) Jorge Castro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2014) O. S. Khwaja et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2014) Nikolaos Mellios et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2014) Laura Dean Heckman et al.   eLife

An AT-Hook Domain in MeCP2 Determines the Clinical Course of Rett Syndrome and Related Disorders

(2013) Steven Andrew Baker et al.   CELL

Global Transcriptional and Translational Repression in Human-Embryonic-Stem-Cell-Derived Rett Syndrome Neurons

(2013) Yun Li et al.   Cell Stem Cell

Differential methylation of the micro-RNA 7b gene targets postnatal maturation of murine neuronalMecp2gene expression

(2013) Yongjun Chen et al.   Developmental Neurobiology

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

(2013) K. Han et al.   GENES & DEVELOPMENT

Systemic Delivery of MeCP2 Rescues Behavioral and Cellular Deficits in Female Mouse Models of Rett Syndrome

(2013) S. K. Garg et al.   JOURNAL OF NEUROSCIENCE

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

(2013) Daniel H. Ebert et al.   NATURE

The emergence of functional microcircuits in visual cortex

(2013) Ho Ko et al.   NATURE

Activity-dependent neuronal signalling and autism spectrum disorder

(2013) Daniel H. Ebert et al.   NATURE

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

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

(2013) Carsten K Pfeffer et al.   NATURE NEUROSCIENCE

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

(2013) Junjie U Guo et al.   NATURE NEUROSCIENCE

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

(2013) Matthew J Lyst et al.   NATURE NEUROSCIENCE

A disinhibitory circuit mediates motor integration in the somatosensory cortex

(2013) Soohyun Lee et al.   NATURE NEUROSCIENCE

BDNF deregulation in Rett syndrome

(2013) Wei Li et al.   NEUROPHARMACOLOGY

Rett Syndrome and Epilepsy: An Update for Child Neurologists

(2013) Alison Dolce et al.   PEDIATRIC NEUROLOGY

MeCP2 Binds to 5hmC Enriched within Active Genes and Accessible Chromatin in the Nervous System

(2012) Marian Mellén et al.   CELL

Dual Regulation of miRNA Biogenesis Generates Target Specificity in Neurotrophin-Induced Protein Synthesis

(2012) Yu-Wen A. Huang et al.   CELL

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

(2012) Rodney C. Samaco et al.   HUMAN MOLECULAR GENETICS

A Critical and Cell-Autonomous Role for MeCP2 in Synaptic Scaling Up

(2012) M. P. Blackman et al.   JOURNAL OF NEUROSCIENCE

MeCP2 Phosphorylation Is Required for Modulating Synaptic Scaling through mGluR5

(2012) X. Zhong et al.   JOURNAL OF NEUROSCIENCE

MeCP2 Is Critical for Maintaining Mature Neuronal Networks and Global Brain Anatomy during Late Stages of Postnatal Brain Development and in the Mature Adult Brain

(2012) M. V. C. Nguyen et al.   JOURNAL OF NEUROSCIENCE

The Rett Syndrome Protein MeCP2 Regulates Synaptic Scaling

(2012) Z. Qiu et al.   JOURNAL OF NEUROSCIENCE

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

(2012) M. Kron et al.   JOURNAL OF NEUROSCIENCE

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

(2012) N Farra et al.   MOLECULAR PSYCHIATRY

Wild-type microglia arrest pathology in a mouse model of Rett syndrome

(2012) Noël C. Derecki et al.   NATURE

Gain control by layer six in cortical circuits of vision

(2012) Shawn R. Olsen et al.   NATURE

A neural circuit for spatial summation in visual cortex

(2012) Hillel Adesnik et al.   NATURE

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

(2012) Rodney C Samaco et al.   NATURE GENETICS

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

(2012) Luc J Gentet et al.   NATURE NEUROSCIENCE

Development and Plasticity of the Primary Visual Cortex

(2012) J. Sebastian Espinosa et al.   NEURON

NMDA Receptor Regulation Prevents Regression of Visual Cortical Function in the Absence of Mecp2

(2012) Severine Durand et al.   NEURON

Disease Modeling Using Embryonic Stem Cells: MeCP2 Regulates Nuclear Size and RNA Synthesis in Neurons

(2012) Morteza Yazdani et al.   STEM CELLS

The Emerging Role of microRNAs in Schizophrenia and Autism Spectrum Disorders

(2012) Nikolaos Mellios et al.   Frontiers in Psychiatry

Mechanisms of Inhibition within the Telencephalon: “Where the Wild Things Are”

(2011) Gord Fishell et al.   Annual Review of Neuroscience

Lin28A and Lin28B Inhibit let-7 MicroRNA Biogenesis by Distinct Mechanisms

(2011) Elena Piskounova et al.   CELL

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

(2011) Rocio G. Urdinguio et al.   Epigenetics

Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome

(2011) Stephanie Fehr et al.   JOURNAL OF CHILD NEUROLOGY

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

(2011) Gaston Calfa et al.   JOURNAL OF NEUROPHYSIOLOGY

MeCP2 Is Critical within HoxB1-Derived Tissues of Mice for Normal Lifespan

(2011) C. S. Ward et al.   JOURNAL OF NEUROSCIENCE

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

(2011) Daniel T. Lioy et al.   NATURE

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

(2011) Darren Goffin et al.   NATURE NEUROSCIENCE

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

(2011) Hongda Li et al.   NATURE NEUROSCIENCE

Experience-Dependent Retinogeniculate Synapse Remodeling Is Abnormal in MeCP2-Deficient Mice

(2011) Joao Noutel et al.   NEURON

Ex Vivo Treatment with a Novel Synthetic Aminoglycoside NB54 in Primary Fibroblasts from Rett Syndrome Patients Suppresses MECP2 Nonsense Mutations

(2011) Manuela Vecsler et al.   PLoS One

Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome

(2011) K.-Y. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Adult Neural Function Requires MeCP2

(2011) C. M. McGraw et al.   SCIENCE

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

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

(2010) Maria C.N. Marchetto et al.   CELL

VISION, COGNITION AND DEVELOPMENTAL CHARACTERISTICS OF GIRLS AND WOMEN WITH RETT SYNDROME

(2010) Stephen Tetzchner et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

(2010) Bernardo Rudy et al.   Developmental Neurobiology

Cross talk between microRNA and epigenetic regulation in adult neurogenesis

(2010) Keith E. Szulwach et al.   JOURNAL OF CELL BIOLOGY

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

(2010) Cornelia Brendel et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Neuronal MeCP2 Is Expressed at Near Histone-Octamer Levels and Globally Alters the Chromatin State

(2010) Peter J. Skene et al.   MOLECULAR CELL

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

(2010) Hsiao-Tuan Chao et al.   NATURE

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

(2010) Heh-In Im et al.   NATURE NEUROSCIENCE

The widespread regulation of microRNA biogenesis, function and decay

(2010) Jacek Krol et al.   NATURE REVIEWS GENETICS

Correction of respiratory disorders in a mouse model of Rett syndrome

(2010) A. P. L. Abdala et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2010) H. Wu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MicroRNA miR-137 Regulates Neuronal Maturation by Targeting Ubiquitin Ligase Mind Bomb-1

(2010) Richard D. Smrt et al.   STEM CELLS

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure

(2009) B Schüle et al.   CLINICAL GENETICS

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

(2009) Keita Tsujimura et al.   EXPERIMENTAL NEUROLOGY

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

(2009) Shay Ben-Shachar et al.   HUMAN MOLECULAR GENETICS

Pathophysiology of Locus Ceruleus Neurons in a Mouse Model of Rett Syndrome

(2009) P. Taneja et al.   JOURNAL OF NEUROSCIENCE

Cation-Chloride Cotransporters and Neuronal Function

(2009) Peter Blaesse et al.   NEURON

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

(2009) R. C. Samaco et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2009) Daniela Tropea et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Communication Between the Synapse and the Nucleus in Neuronal Development, Plasticity, and Disease

(2008) Sonia Cohen et al.   Annual Review of Cell and Developmental Biology

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

(2008) Tasuku Nomura et al.   HUMAN MOLECULAR GENETICS

SMAD proteins control DROSHA-mediated microRNA maturation

(2008) Brandi N. Davis et al.   NATURE

Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome

(2008) J. L. Neul et al.   NEUROLOGY

A Biological Function for the Neuronal Activity-Dependent Component of Bdnf Transcription in the Development of Cortical Inhibition

(2008) Elizabeth J. Hong et al.   NEURON

Molecular mechanisms of experience-dependent plasticity in visual cortex

(2008) D. Tropea et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription

(2008) M. Chahrour et al.   SCIENCE

Early Defects of GABAergic Synapses in the Brain Stem of a MeCP2 Mouse Model of Rett Syndrome

(2007) L. Medrihan et al.   JOURNAL OF NEUROPHYSIOLOGY