NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease

Nature reviews. Neuroscience, Journal Year: 2013, Volume and Issue: 14(6), P. 383 - 400

Published: May 20, 2013

Language: Английский

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From the genetic architecture to synaptic plasticity in autism spectrum disorder

Nature reviews. Neuroscience, Journal Year: 2015, Volume and Issue: 16(9), P. 551 - 563

Published: Aug. 20, 2015

Language: Английский

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Advancing the understanding of autism disease mechanisms through genetics

Nature Medicine, Journal Year: 2016, Volume and Issue: 22(4), P. 345 - 361

Published: April 1, 2016

Language: Английский

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Neurobiology of rodent self-grooming and its value for translational neuroscience

Nature reviews. Neuroscience, Journal Year: 2015, Volume and Issue: 17(1), P. 45 - 59

Published: Dec. 17, 2015

Language: Английский

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Activity-dependent neuronal signalling and autism spectrum disorder

Nature, Journal Year: 2013, Volume and Issue: 493(7432), P. 327 - 337

Published: Jan. 15, 2013

Language: Английский

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SHANK proteins: roles at the synapse and in autism spectrum disorder

Nature reviews. Neuroscience, Journal Year: 2017, Volume and Issue: 18(3), P. 147 - 157

Published: Feb. 9, 2017

Language: Английский

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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

PLoS Genetics, Journal Year: 2014, Volume and Issue: 10(9), P. e1004580 - e1004580

Published: Sept. 4, 2014

SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on induction maturation dendritic spines, whereas SHANK1 induces enlargement spine heads. Mutations in been associated with autism spectrum disorders (ASD), but their prevalence clinical relevance remain to be determined. Here, we performed new screen meta-analysis copy-number coding-sequence variants ASD. Copy-number were analyzed 5,657 patients 19,163 controls, ascertained 760 2,147 492 1,090 controls (depending gene), and, individuals carrying de novo or truncating mutations underwent an extensive investigation. present ∼1% ASD: rare (0.04%) males normal IQ autism; 0.17% ASD mild intellectual disability; 0.69% up 2.12% cases moderate profound disability. summary, detected whole gradient severity cognitive impairment. Given frequency deleterious mutations, these remains ascertained. contrast, penetrance disability—more than 1 50—warrant its consideration mutation screening practice.

Language: Английский

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Autism-related deficits via dysregulated eIF4E-dependent translational control

Nature, Journal Year: 2012, Volume and Issue: 493(7432), P. 371 - 377

Published: Nov. 21, 2012

Language: Английский

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Common Mechanisms of Excitatory and Inhibitory Imbalance in Schizophrenia and Autism Spectrum Disorders

Current Molecular Medicine, Journal Year: 2015, Volume and Issue: 15(2), P. 146 - 167

Published: March 18, 2015

Autism Spectrum Disorders (ASD) and Schizophrenia (SCZ) are cognitive disorders with complex genetic architectures but overlapping behavioral phenotypes, which suggests common pathway perturbations. Multiple lines of evidence implicate imbalances in excitatory inhibitory activity (E/I imbalance) as a shared pathophysiological mechanism. Thus, understanding the molecular underpinnings E/I imbalance may provi de essential insight into etiology these uncover novel targets for future drug discovery. Here, we review key genetic, physiological, neuropathological, functional, studies that suggest alterations to excitatory/inhibitory circuits keys ASD SCZ pathogenesis. Keywords: Autism, dendritic spine, imbalance, GABAergic interneuron, glutamatergic, mTOR, NMDAR, schizophrenia.

Language: Английский

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The Genetic Landscapes of Autism Spectrum Disorders

Annual Review of Genomics and Human Genetics, Journal Year: 2013, Volume and Issue: 14(1), P. 191 - 213

Published: July 22, 2013

The autism spectrum disorders (ASD) are characterized by impairments in social interaction and stereotyped behaviors. For the majority of individuals with ASD, causes disorder remain unknown; however, up to 25% cases, a genetic cause can be identified. Chromosomal rearrangements as well rare de novo copy-number variants present ∼10–20% compared 1–2% general population and/or unaffected siblings. Rare coding-sequence mutations affecting neuronal genes have also been identified ∼5–10% ASD. Common such single-nucleotide polymorphisms seem contribute ASD susceptibility, but, taken individually, their effects appear small. Despite heterogeneous landscape, implicated thus far—which involved chromatin remodeling, metabolism, mRNA translation, synaptic function—seem converge common pathways homeostasis. Animal models developed study these should lead better understanding diversity landscapes

Language: Английский

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