Postnatal Neurodevelopmental Disorders: Meeting at the Synapse?

By H. Zoghbi. Science, 2003

709 citations recorded by the source corpus.

Subfields: Clinical Psychology, Cognitive Neuroscience, Genetics

View Paper: https://www.semanticscholar.org/paper/4fa9162bb6b0f3d64f1bece233a5f287c4426e96

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Citations in the corpus

Pten regulates neuronal arborization and social interaction in mice. (2006, positive): “Conversely, in Rett Syndrome and some reports of autism, neuronal atrophy and reduced dendritic spines have been reported (Zoghbi, 2003).”
Disrupted-In-Schizophrenia 1 regulates integration of newly generated neurons in the adult brain. (2007, background): “Emerging evidence also suggests that many mental disorders are developmental in nature and may result from defects in neuronal integration (Arnold et al., 2005; Lewis and Levitt, 2002; Zoghbi, 2003).”
Autism spectrum disorders: developmental disconnection syndromes (2007, background): “These genetic findings in idiopathic ASDs and nonsyndromic mental retardation emphasize the overlap between the autisms and more general disruption of brain development, as is also suggested by the multitude of syndromic causes of the autisms, including Fragile X syndrome, Joubert syndrome and, rare”
Activity-dependent validation of excitatory versus inhibitory synapses by neuroligin-1 versus neuroligin-2. (2007, positive): “Mutations in NL genes are found in patients with familial autismspectrum disorders (Jamain et al., 2003; Laumonnier et al., 2004; Yan et al., 2005; Zoghbi, 2003), including a point mutation in the neuroligin-3 (NL3) gene (the Arg451Cys substitution) that causes at least partial retention of NL3 in t”
A synaptic trek to autism. (2009, background): “Abnormal balance between inhibitory and excitatory currents in ASD The possibility that alteration of synaptic functions could lead to ASD was first indicated by the phenotypic overlap between autism, fragile X syndrome, and Rett syndrome [12,13].”
A model for neural development and treatment of Rett Syndrome using human induced pluripotent stem cells (2010, background): “Strong evidence implicates synapse alteration in ASD, including RTT (Zoghbi, 2003).”
Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses (2011, result): “Therefore, our analysis strongly supports the hypothesis that autism is primarily a disease of synaptic and neuronal connectivity malfunction (Zoghbi, 2003).”
5-hmC–mediated epigenetic dynamics during postnatal neurodevelopment and aging (2011, background): “Disruption of DNA methylation–related processes leads to diverse neurological disorders, often characterized by postnatal manifestatio”
Structural variation of chromosomes in autism spectrum disorder. (2008, background): “2 (MIM 610883), most likely because we limited our cases to more strictly defined ASD.”
From synapse to nucleus: calcium-dependent gene transcription in the control of synapse development and function. (2008, background): “This is the time when activity-dependent synaptic development is underway (Zoghbi, 2003) and raises the possibility that Rett syndrome is a disorder of activity-dependent gene transcription.”
The autistic neuron: troubled translation? (2008, background): “The identification of mutations in neuroligins as rare genetic causes of autism suggested that defects in synaptic function may be intimately involved in autism pathogenesis (Zoghbi, 2003; Persico and”
Common circuit defect of excitatory-inhibitory balance in mouse models of autism (2009, neutral): “ASD is primarily a genetic disorder of prenatal and early postnatal brain development involving multiple risk genes, disrupted epigenetic pathways and possible environmental insults [2].”
Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation. (2006, background): “One hint may lie in the fact that MeCP2 protein levels increase as neurons mature (Zoghbi, 2003).”