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

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

CDKL5 alterations lead to early epileptic encephalopathy in both genders

(2011) Jao-Shwann Liang et al.   EPILEPSIA

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

Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features

(2011) Nils Rademacher et al.   NEUROGENETICS

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

A Tissue-Specific Atlas of Mouse Protein Phosphorylation and Expression

(2010) Edward L. Huttlin et al.   CELL

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

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

Female Human iPSCs Retain an Inactive X Chromosome

(2010) Jason Tchieu et al.   Cell Stem Cell

Long-term culture and differentiation of CNS precursors derived from anterior human neural rosettes following exposure to ventralizing factors

(2010) Silvia Colleoni et al.   EXPERIMENTAL CELL RESEARCH

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

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

Characterization of the proteome, diseases and evolution of the human postsynaptic density

(2010) Àlex Bayés et al.   NATURE NEUROSCIENCE

CDKL5truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome

(2009) C Córdova-Fletes et al.   CLINICAL GENETICS

The postsynaptic density

(2009) Eunjoon Kim et al.   CURRENT BIOLOGY

Xp22.3 genomic deletions involving theCDKL5gene in girls with early onset epileptic encephalopathy

(2009) Davide Mei et al.   EPILEPSIA

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)

(2009) André B. P. van Kuilenburg et al.   HUMAN GENETICS

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

(2009) Sara Ricciardi et al.   HUMAN MOLECULAR GENETICS

The NGL family of leucine-rich repeat-containing synaptic adhesion molecules

(2009) Jooyeon Woo et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Trans-synaptic adhesion between NGL-3 and LAR regulates the formation of excitatory synapses

(2009) Jooyeon Woo et al.   NATURE NEUROSCIENCE

Key clinical features to identify girls with CDKL5 mutations

(2008) Nadia Bahi-Buisson et al.   BRAIN

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

Serine phosphorylation of ephrinB2 regulates trafficking of synaptic AMPA receptors

(2008) Clara L Essmann et al.   NATURE NEUROSCIENCE

Association of polymorphisms in the haplotype block spanning the alternatively spliced exons of the NTNG1 gene at 1p13.3 with schizophrenia in Japanese populations

(2008) T. Ohtsuki et al.   NEUROSCIENCE LETTERS

Synaptic adhesion molecules and PSD-95

(2007) Kihoon Han et al.   PROGRESS IN NEUROBIOLOGY