The neurobiology of X-linked intellectual disability.

Unusual characteristics of the DNA binding domain of epigenetic regulatory protein MeCP2 determine its binding specificity. Biochemistry (2014) 0.93

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Eur J Hum Genet (2015) 0.87

A meta-analysis of gene expression quantitative trait loci in brain. Transl Psychiatry (2014) 0.87

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. Orphanet J Rare Dis (2014) 0.86

Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. Am J Med Genet A (2014) 0.84

MicroRNAs: Not "Fine-Tuners" but Key Regulators of Neuronal Development and Function. Front Neurol (2015) 0.83

Control of Dendritic Spine Morphological and Functional Plasticity by Small GTPases. Neural Plast (2016) 0.78

Intellectual disability-associated dBRWD3 regulates gene expression through inhibition of HIRA/YEM-mediated chromatin deposition of histone H3.3. EMBO Rep (2015) 0.76

A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder. Biomed Rep (2015) 0.75

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. Am J Hum Genet (2016) 0.75

Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection. Hum Genome Var (2017) 0.75

Epilepsy and intellectual disability linked protein Shrm4 interaction with GABABRs shapes inhibitory neurotransmission. Nat Commun (2017) 0.75

Extracellular interactions between GluR2 and N-cadherin in spine regulation. Neuron (2007) 2.45

Motor protein-dependent transport of AMPA receptors into spines during long-term potentiation. Nat Neurosci (2008) 2.10

Interaction between GRIP and liprin-alpha/SYD2 is required for AMPA receptor targeting. Neuron (2002) 2.05

A functional role of postsynaptic density-95-guanylate kinase-associated protein complex in regulating Shank assembly and stability to synapses. J Neurosci (2004) 1.53

Neurosteroids, GABAA receptors, and ethanol dependence. Psychopharmacology (Berl) (2005) 1.18

Cholesterol reduction impairs exocytosis of synaptic vesicles. J Cell Sci (2010) 1.18

Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation. Hum Mol Genet (2009) 1.12

A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation. Curr Biol (2010) 1.11

The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPδ and RhoGAP2. Hum Mol Genet (2011) 1.06

Developmental vulnerability of synapses and circuits associated with neuropsychiatric disorders. J Neurochem (2013) 1.05

The muscle relaxant thiocolchicoside is an antagonist of GABAA receptor function in the central nervous system. Neuropharmacology (2006) 1.05

GluA2 (GluR2) regulates metabotropic glutamate receptor-dependent long-term depression through N-cadherin-dependent and cofilin-mediated actin reorganization. J Neurosci (2011) 1.00

Changes in expression and function of extrasynaptic GABAA receptors in the rat hippocampus during pregnancy and after delivery. J Neurosci (2009) 1.00

2-Phenyl-imidazo[1,2-a]pyridine compounds containing hydrophilic groups as potent and selective ligands for peripheral benzodiazepine receptors: synthesis, binding affinity and electrophysiological studies. J Med Chem (2008) 0.99

The X-linked intellectual disability protein TSPAN7 regulates excitatory synapse development and AMPAR trafficking. Neuron (2012) 0.98

NSF interaction is important for direct insertion of GluR2 at synaptic sites. Mol Cell Neurosci (2005) 0.98

A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα. Nat Neurosci (2011) 0.97

The regulated expression, intracellular trafficking, and membrane recycling of the P2Y-like receptor GPR17 in Oli-neu oligodendroglial cells. J Biol Chem (2013) 0.97

β3 integrin interacts directly with GluA2 AMPA receptor subunit and regulates AMPA receptor expression in hippocampal neurons. Proc Natl Acad Sci U S A (2012) 0.93

A novel pathway for presynaptic mitogen-activated kinase activation via AMPA receptors. J Neurosci (2005) 0.91

AMPAR trafficking in synapse maturation and plasticity. Cell Mol Life Sci (2013) 0.91

Changes in expression of the delta subunit of the GABA (A) receptor and in receptor function induced by progesterone exposure and withdrawal. J Neurochem (2006) 0.87

The GluR2 subunit inhibits proliferation by inactivating Src-MAPK signalling and induces apoptosis by means of caspase 3/6-dependent activation in glioma cells. Eur J Neurosci (2009) 0.86

Distinct patterns of expression and regulation of GABA receptors containing the delta subunit in cerebellar granule and hippocampal neurons. J Neurochem (2005) 0.86

Synaptic dysfunction and intellectual disability. Adv Exp Med Biol (2012) 0.81

The transcription factor CCAAT enhancer-binding protein β protects rat cerebellar granule neurons from apoptosis through its transcription-activating isoforms. Eur J Neurosci (2013) 0.80

Plastic neuronal changes in GABA(A) receptor gene expression induced by progesterone metabolites: in vitro molecular and functional studies. Pharmacol Biochem Behav (2006) 0.80

The E1015K variant in the synprint region of the CaV2.1 channel alters channel function and is associated with different migraine phenotypes. J Biol Chem (2013) 0.79

Activation of subthalamic alpha 2 noradrenergic receptors induces motor deficits as a consequence of neuronal burst firing. Neurobiol Dis (2012) 0.78

Flumazenil selectively prevents the increase in alpha(4)-subunit gene expression and an associated change in GABA(A) receptor function induced by ethanol withdrawal. J Neurochem (2007) 0.78

Human astrocytes can be induced to differentiate into cells with neuronal phenotype. Exp Cell Res (2006) 0.77

Identification, isolation and expansion of myoendothelial cells involved in leech muscle regeneration. PLoS One (2009) 0.76

TSPAN7: A new player in excitatory synapse maturation and function. Bioarchitecture (2012) 0.76