GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing

(2013) Elisa Grillo et al.   PLoS One

Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome

(2012) Giuseppe Marangi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1–PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons

(2012) Sara Ricciardi et al.   NATURE CELL BIOLOGY

Deletion of Glutamate Delta-1 Receptor in Mouse Leads to Aberrant Emotional and Social Behaviors

(2012) Roopali Yadav et al.   PLoS One

Induction of excitatory and inhibitory presynaptic differentiation by GluD1

(2011) Kyounghee Ryu et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Inflammation in epilepsy: Clinical observations

(2011) Eleonora Aronica et al.   EPILEPSIA

iPS cells to model CDKL5-related disorders

(2011) Mariangela Amenduni et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Induced pluripotent stem cells (iPSCs) and neurological disease modeling: progress and promises

(2011) M. C. Marchetto et al.   HUMAN MOLECULAR GENETICS

Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

(2011) Aaron Y.L. Cheung et al.   HUMAN MOLECULAR GENETICS

ExtrasynapticN-Methyl-d-aspartate (NMDA) Receptor Stimulation Induces Cytoplasmic Translocation of the CDKL5 Kinase and Its Proteasomal Degradation

(2011) Laura Rusconi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Glutamate receptor δ1 induces preferentially inhibitory presynaptic differentiation of cortical neurons by interacting with neurexins through cerebellin precursor protein subtypes

(2011) Misato Yasumura et al.   JOURNAL OF NEUROCHEMISTRY

Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathway

(2011) Jean-Christophe Roux et al.   NEUROBIOLOGY OF DISEASE

Cell-Surface Marker Signatures for the Isolation of Neural Stem Cells, Glia and Neurons Derived from Human Pluripotent Stem Cells

(2011) Shauna H. Yuan et al.   PLoS One

Isogenic Pairs of Wild Type and Mutant Induced Pluripotent Stem Cell (iPSC) Lines from Rett Syndrome Patients as In Vitro Disease Model

(2011) Gene Ananiev et al.   PLoS One

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

Differential Modeling of Fragile X Syndrome by Human Embryonic Stem Cells and Induced Pluripotent Stem Cells

(2010) Achia Urbach et al.   Cell Stem Cell

Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes

(2010) J. Nectoux et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy

(2010) Juliette Nectoux et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

MeCP2 Is Required for Normal Development of GABAergic Circuits in the Thalamus

(2010) Zhong-Wei Zhang et al.   JOURNAL OF NEUROPHYSIOLOGY

CDKL5, a Protein Associated with Rett Syndrome, Regulates Neuronal Morphogenesis via Rac1 Signaling

(2010) Q. Chen et al.   JOURNAL OF NEUROSCIENCE

CDKL5 is a brain MeCP2 target gene regulated by DNA methylation

(2010) Delphine Carouge et al.   NEUROBIOLOGY OF DISEASE

Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader–Willi syndromes

(2010) Stormy J. Chamberlain et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

(2009) Christiane Zweier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

(2009) R. Artuso et al.   BRAIN & DEVELOPMENT

CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery

(2009) Sara Ricciardi et al.   HUMAN MOLECULAR GENETICS

Widespread changes in dendritic and axonal morphology inMecp2-mutant mouse models of rett syndrome: Evidence for disruption of neuronal networks

(2009) Pavel V. Belichenko et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Isolation of human iPS cells using EOS lentiviral vectors to select for pluripotency

(2009) Akitsu Hotta et al.   NATURE METHODS

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

(2009) Christopher A. Chapleau et al.   NEUROBIOLOGY OF DISEASE

Postsynaptic glutamate receptor   family contributes to presynaptic terminal differentiation and establishment of synaptic transmission

(2009) T. Kuroyanagi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dissection of phenotype reveals possible association between schizophrenia and Glutamate Receptor Delta 1 (GRID1) gene promoter

(2009) Jens Treutlein et al.   SCHIZOPHRENIA RESEARCH

Common variants in polygenic schizophrenia

(2009) Joseph T Glessner et al.   GENOME BIOLOGY

Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1

(2008) Isamu Kameshita et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

CDKL5 Expression Is Modulated during Neuronal Development and Its Subcellular Distribution Is Tightly Regulated by the C-terminal Tail

(2008) Laura Rusconi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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