Exclusive expression of MeCP2 in the nervous system distinguishes between brain and peripheral Rett syndrome-like phenotypes

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy

(2016) Gillian Hunter 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

Osteoblast function and bone histomorphometry in a murine model of Rett syndrome

(2015) Mary E. Blue et al.   BONE

Biomechanical properties of bone in a mouse model of Rett syndrome

(2015) Bushra Kamal et al.   BONE

Nestin-expressing vascular wall cells drive development of pulmonary hypertension

(2015) Farhan Saboor et al.   EUROPEAN RESPIRATORY JOURNAL

Renal Tubular Epithelial Vacuoles-A Marker for Both Hyperlipidemia and Ketoacidosis at Autopsy

(2015) Chong Zhou et al.   JOURNAL OF FORENSIC SCIENCES

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

(2015) Harrison W. Gabel et al.   NATURE

Rett syndrome: a complex disorder with simple roots

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

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

(2015) Valentina Conti et al.   PLoS One

Metabolic and Behavioural Phenotypes in Nestin-Cre Mice Are Caused by Hypothalamic Expression of Human Growth Hormone

(2015) Jeroen Declercq et al.   PLoS One

Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

(2014) Thomas M. Wishart et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Gait Analysis in a Mecp2 Knockout Mouse Model of Rett Syndrome Reveals Early-Onset and Progressive Motor Deficits

(2014) Kamal K. E. Gadalla et al.   PLoS One

DNA methylation reader MECP2: cell type- and differentiation stage-specific protein distribution

(2014) Congdi Song et al.   Epigenetics & Chromatin

An evaluation of the reliability of muscle fiber cross-sectional area and fiber number measurements in rat skeletal muscle

(2013) Lisa Ceglia et al.   BIOLOGICAL PROCEDURES ONLINE

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

(2013) Yun Li et al.   Cell Stem Cell

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

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

(2013) Christie M Buchovecky et al.   NATURE GENETICS

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

Vascular Dysfunction in a Mouse Model of Rett Syndrome and Effects of Curcumin Treatment

(2013) Anna Panighini et al.   PLoS One

Hyperlipidemia-Associated Renal Damage Decreases Klotho Expression in Kidneys from ApoE Knockout Mice

(2013) Cristina Sastre et al.   PLoS One

Breathing challenges in Rett Syndrome: Lessons learned from humans and animal models

(2013) Jan-Marino Ramirez et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome

(2012) Lianne Robinson et al.   BRAIN

Improved Survival and Reduced Phenotypic Severity Following AAV9/MECP2 Gene Transfer to Neonatal and Juvenile Male Mecp2 Knockout Mice

(2012) Kamal KE Gadalla et al.   MOLECULAR THERAPY

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

(2011) Darren Goffin et al.   NATURE NEUROSCIENCE

Synaptic plasticity deficits in an experimental model of rett syndrome: long-term potentiation saturation and its pharmacological reversal

(2011) S.-M. Weng et al.   NEUROSCIENCE

The benzodiazepine Midazolam mitigates the breathing defects of Mecp2-deficient mice

(2011) Nicolas Voituron et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

Pathogenesis of Lethal Cardiac Arrhythmias in Mecp2 Mutant Mice: Implication for Therapy in Rett Syndrome

(2011) M. D. McCauley et al.   Science Translational Medicine

Rett syndrome: Revised diagnostic criteria and nomenclature

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

Unrecognized Lung Disease in Classic Rett Syndrome

(2010) Claudio De Felice et al.   CHEST

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

Monoamine deficits in the brain of methyl-CpG binding protein 2 null mice suggest the involvement of the cerebral cortex in early stages of Rett syndrome

(2010) M. Santos et al.   NEUROSCIENCE

Profiling Scoliosis in Rett Syndrome

(2010) Alan K Percy et al.   PEDIATRIC RESEARCH

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

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

(2009) R.D. O'Connor et al.   BONE

Early breathing defects after moderate hypoxia or hypercapnia in a mouse model of Rett syndrome

(2009) Nicolas Voituron et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

AMPK and PPARδ Agonists Are Exercise Mimetics

(2008) Vihang A. Narkar et al.   CELL

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

Early Determinants of Fractures in Rett Syndrome

(2008) J. Downs et al.   PEDIATRICS