Rett syndrome: a neurological disorder with metabolic components

Liver X receptors link lipid metabolism and inflammation

(2017) Ira G. Schulman   FEBS LETTERS

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

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

Proteomic analysis of the Rett syndrome experimental model mecp2Q63X mutant zebrafish

(2017) Alessio Cortelazzo et al.   Journal of Proteomics

Radically truncated MeCP2 rescues Rett syndrome-like neurological defects

(2017) Rebekah Tillotson 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

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

Alzheimer's disease and metabolic syndrome: A link from oxidative stress and inflammation to neurodegeneration

(2017) Eduardo Rojas-Gutierrez et al.   SYNAPSE

Mitochondrial Dysfunction in the Pathogenesis of Rett Syndrome: Implications for Mitochondria-Targeted Therapies

(2017) Natalya Shulyakova et al.   Frontiers in Cellular Neuroscience

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

(2017) Sabine Lagger et al.   PLoS Genetics

RNA sequencing and proteomics approaches reveal novel deficits in the cortex of Mecp2-deficient mice, a model for Rett syndrome

(2017) Natasha L. Pacheco et al.   Molecular Autism

TheMECP2variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

(2016) B. Schönewolf-Greulich et al.   CLINICAL GENETICS

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

(2016) Surabi Veeraragavan et al.   HUMAN MOLECULAR GENETICS

MeCP2 co-ordinates liver lipid metabolism with the NCoR1/HDAC3 corepressor complex

(2016) Stephanie M. Kyle et al.   HUMAN MOLECULAR GENETICS

MeCP2 deficiency results in robust Rett-like behavioural and motor deficits in male and female rats

(2016) Kelsey C. Patterson et al.   HUMAN MOLECULAR GENETICS

Defective cholesterol metabolism in amyotrophic lateral sclerosis

(2016) Jonas Abdel-Khalik et al.   JOURNAL OF LIPID RESEARCH

A specific mutation inTBL1XR1causes Pierpont syndrome

(2016) Charlotte A Heinen et al.   JOURNAL OF MEDICAL GENETICS

Characterization of Rett Syndrome-like phenotypes in Mecp2-knockout rats

(2016) Yang Wu et al.   Journal of Neurodevelopmental Disorders

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

(2016) Alexi Nott et al.   NATURE NEUROSCIENCE

Systemic Radical Scavenger Treatment of a Mouse Model of Rett Syndrome: Merits and Limitations of the Vitamin E Derivative Trolox

(2016) Oliwia A. Janc et al.   Frontiers in Cellular Neuroscience

Reduction of aberrant NF-κB signalling ameliorates Rett syndrome phenotypes in Mecp2-null mice

(2016) Noriyuki Kishi et al.   Nature Communications

Misregulation of Alternative Splicing in a Mouse Model of Rett Syndrome

(2016) Ronghui Li et al.   PLoS Genetics

Lovastatin fails to improve motor performance and survival in methyl-CpG-binding protein2-null mice

(2016) Claudia Villani et al.   eLife

MeCP2 Related Studies Benefit from the Use of CD1 as Genetic Background

(2016) Clementina Cobolli Gigli et al.   PLoS One

Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome

(2016) Christopher S. Ward et al.   PLoS One

N-acetylglucosamine modification in the lumen of the endoplasmic reticulum

(2015) Mitsutaka Ogawa et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

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

(2015) Francesco Bedogni et al.   CEREBRAL CORTEX

You are what you eat

(2015) Stéphanie Olivier-Van Stichelen et al.   CURRENT OPINION IN CLINICAL NUTRITION AND METABOLIC CARE

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

(2015) Kyla Brown et al.   HUMAN MOLECULAR GENETICS

Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene

(2015) Meagan R. Pitcher et al.   HUMAN MOLECULAR GENETICS

PTP1B inhibition suggests a therapeutic strategy for Rett syndrome

(2015) Navasona Krishnan et al.   JOURNAL OF CLINICAL INVESTIGATION

Rett syndrome: a complex disorder with simple roots

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

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

Cytokine Dysregulation inMECP2- andCDKL5-Related Rett Syndrome: Relationships with Aberrant Redox Homeostasis, Inflammation, andω-3 PUFAs

(2015) Silvia Leoncini et al.   Oxidative Medicine and Cellular Longevity

MeCP2 Affects Skeletal Muscle Growth and Morphology through Non Cell-Autonomous Mechanisms

(2015) Valentina Conti et al.   PLoS One

Disturbance of cardiac gene expression and cardiomyocyte structure predisposes Mecp2-null mice to arrhythmias

(2015) Munetsugu Hara et al.   Scientific Reports

Statin Therapy and Risk of Acute Memory Impairment

(2015) Brian L. Strom et al.   JAMA Internal Medicine

Cholesterol levels in Fragile X syndrome

(2014) Elizabeth Berry-Kravis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A new syndrome of intellectual disability with dysmorphism due toTBL1XR1deletion

(2014) Linda Pons et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Aberrant redox homoeostasis and mitochondrial dysfunction in Rett syndrome: Figure 1

(2014) Michael Müller et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

(2014) Michael Freilinger et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

(2014) Hirotomo Saitsu et al.   JOURNAL OF HUMAN GENETICS

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

(2014) Vishnu Anand Cuddapah et al.   JOURNAL OF MEDICAL GENETICS

Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): Implications for the disease phenotype

(2014) W.A. Gold et al.   MITOCHONDRION

Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome

(2014) Claudio De Felice et al.   NEUROBIOLOGY OF DISEASE

Twenty years of surveillance in Rett syndrome: what does this tell us?

(2014) Alison Anderson et al.   Orphanet Journal of Rare Diseases

Brain Region-Specific Expression of MeCP2 Isoforms Correlates with DNA Methylation within Mecp2 Regulatory Elements

(2014) Carl O. Olson et al.   PLoS One

Cholesterol Metabolism Is Altered in Rett Syndrome: A Study on Plasma and Primary Cultured Fibroblasts Derived from Patients

(2014) Marco Segatto et al.   PLoS One

Characterization of the MeCP2R168X Knockin Mouse Model for Rett Syndrome

(2014) Eike Wegener et al.   PLoS One

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

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

(2014) Juan Ausió et al.   TRENDS IN MOLECULAR MEDICINE

MeCP2 post-translational modifications: a mechanism to control its involvement in synaptic plasticity and homeostasis?

(2014) Elisa Bellini et al.   Frontiers in Cellular Neuroscience

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

(2014) Ling-jie He et al.   Nature Communications

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

Scavenger receptor B1 post-translational modifications in Rett syndrome

(2013) Claudia Sticozzi et al.   FEBS LETTERS

Emerging roles of the corepressors NCoR1 and SMRT in homeostasis

(2013) A. Mottis et al.   GENES & DEVELOPMENT

Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome

(2013) Dag H. Yasui et al.   HUMAN MOLECULAR GENETICS

Functional characterization of the MECP2/IRAK1 lupus risk haplotype in human T cells and a human MECP2 transgenic mouse

(2013) Kristi A. Koelsch et al.   JOURNAL OF AUTOIMMUNITY

Oligodendrocyte Lineage Cells Contribute Unique Features to Rett Syndrome Neuropathology

(2013) M. V. C. Nguyen et al.   JOURNAL OF NEUROSCIENCE

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

(2013) Daniel H. Ebert et al.   NATURE

A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome

(2013) Christie M Buchovecky et al.   NATURE GENETICS

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

(2013) Matthew J Lyst et al.   NATURE NEUROSCIENCE

Lovastatin Corrects Excess Protein Synthesis and Prevents Epileptogenesis in a Mouse Model of Fragile X Syndrome

(2013) Emily K. Osterweil et al.   NEURON

The first mecp2-null zebrafish model shows altered motor behaviors

(2013) Thomas Pietri et al.   Frontiers in Neural Circuits

Preclinical research in Rett syndrome: setting the foundation for translational success

(2012) D. M. Katz et al.   Disease Models & Mechanisms

Epilepsy in Rett syndrome, andCDKL5- andFOXG1-gene-related encephalopathies

(2012) Renzo Guerrini et al.   EPILEPSIA

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

(2012) Stephanie Fehr et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Methyl CpG-binding Protein Isoform MeCP2_e2 Is Dispensable for Rett Syndrome Phenotypes but Essential for Embryo Viability and Placenta Development

(2012) Masayuki Itoh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women With Rett Syndrome

(2012) Kathleen J. Motil et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Regulation of cholesterol homeostasis

(2012) Mariëtte Y.M. van der Wulp et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Hepatic Hdac3 promotes gluconeogenesis by repressing lipid synthesis and sequestration

(2012) Zheng Sun et al.   NATURE MEDICINE

New insights into the role of cytochrome P450 reductase (POR) in microsomal redox biology

(2012) Todd D. Porter   Acta Pharmaceutica Sinica B

Therapeutics for Childhood Neurofibromatosis Type 1 and Type 2

(2011) Simone L. Ardern-Holmes et al.   Current Treatment Options in Neurology

Statin-induced myopathy: a review and update

(2011) Thura T Abd et al.   Expert Opinion On Drug Safety

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

Cholesterol metabolism in Huntington disease

(2011) Joanna M. Karasinska et al.   Nature Reviews Neurology

Genome-Wide Activity-Dependent MeCP2 Phosphorylation Regulates Nervous System Development and Function

(2011) Sonia Cohen et al.   NEURON

Cholesterol metabolism in neurons and astrocytes

(2011) Frank W. Pfrieger et al.   PROGRESS IN LIPID RESEARCH

Oxidative stress in Rett syndrome: Natural history, genotype, and variants

(2011) Silvia Leoncini et al.   REDOX REPORT

A Circadian Rhythm Orchestrated by Histone Deacetylase 3 Controls Hepatic Lipid Metabolism

(2011) D. Feng et al.   SCIENCE

An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males

(2011) Ren-Hua Chung et al.   Molecular Autism

Rett syndrome: Revised diagnostic criteria and nomenclature

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

Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation

(2010) Garilyn M Jentarra et al.   BMC NEUROSCIENCE

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

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

A novelCDKL5mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome

(2009) Stefano Sartori et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Autism and other neuropsychiatric symptoms are prevalent in individuals withMeCP2duplication syndrome

(2009) Melissa B. Ramocki et al.   ANNALS OF NEUROLOGY

Central nervous system: cholesterol turnover, brain development and neurodegeneration

(2009) John M. Dietschy   BIOLOGICAL CHEMISTRY

Mecp2 deficiency decreases bone formation and reduces bone volume in a rodent model of Rett syndrome

(2009) R.D. O'Connor et al.   BONE

Systemic oxidative stress in classic Rett syndrome

(2009) Claudio De Felice et al.   FREE RADICAL BIOLOGY AND MEDICINE

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

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

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

(2009) C. Philippe et al.   JOURNAL OF MEDICAL GENETICS

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

(2009) M. A. Mencarelli et al.   JOURNAL OF MEDICAL GENETICS

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

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

A Novel MECP2 Mutation in a Boy with Neonatal Encephalopathy and Facial Dysmorphism

(2009) Kristina Jülich et al.   JOURNAL OF PEDIATRICS

Non–cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology

(2009) Nurit Ballas et al.   NATURE NEUROSCIENCE

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

(2009) B. B. Zeev et al.   NEUROLOGY

Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function

(2009) J. Tao 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

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

(2008) Francesca Ariani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Long-term plasma levels of leptin and adiponectin in Rett syndrome

(2008) P. Blardi et al.   CLINICAL ENDOCRINOLOGY

Liver-specific deletion of histone deacetylase 3 disrupts metabolic transcriptional networks

(2008) Sarah K Knutson et al.   EMBO JOURNAL

A partial loss of function allele of Methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome

(2008) R. C. Samaco et al.   HUMAN MOLECULAR GENETICS

Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice

(2008) Bredford Kerr et al.   HUMAN MOLECULAR GENETICS

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

(2008) J. L. Neul et al.   NEUROLOGY

The Blood-Brain Barrier in Health and Chronic Neurodegenerative Disorders

(2008) Berislav V. Zlokovic   NEURON

Deletion of Mecp2 in Sim1-Expressing Neurons Reveals a Critical Role for MeCP2 in Feeding Behavior, Aggression, and the Response to Stress

(2008) Sharyl L. Fyffe et al.   NEURON

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

(2008) M. Chahrour et al.   SCIENCE

Sympathetic overactivity and plasma leptin levels in Rett syndrome

(2007) Maurizio Acampa et al.   NEUROSCIENCE LETTERS