Cited by 797Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchNeuroscience and Neuropharmacology Research

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Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

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Zoghbi, H. Y., Bear, M. F.·2012·Cold Spring Harbor Perspectives in Biology

DOI 10.1101/cshperspect.a009886PMC PMC3282414

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Abstract

The discovery of the genetic causes of syndromic autism spectrum disorders and intellectual disabilities has greatly informed our understanding of the molecular pathways critical for normal synaptic function. The top-down approaches using human phenotypes and genetics helped identify causative genes and uncovered the broad spectrum of neuropsychiatric features that can result from various mutations in the same gene. Importantly, the human studies unveiled the exquisite sensitivity of cognitive function to precise levels of many diverse proteins. Bottom-up approaches applying molecular, biochemical, and neurophysiological studies to genetic models of these disorders revealed unsuspected pathogenic mechanisms and identified potential therapeutic targets. Moreover, studies in model organisms showed that symptoms of these devastating disorders can be reversed, which brings hope that affected individuals might benefit from interventions even after symptoms set in. Scientists predict that insights gained from studying these rare syndromic disorders will have an impact on the more common nonsyndromic autism and mild cognitive deficits.

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Authors: Zoghbi, H. Y., & Bear, M. F.
Affiliations: Howard Hughes Medical Institute (US)
ORCID: Zoghbi, H. Y.
Bear, M. F.
Venue: Cold Spring Harbor Perspectives in Biology
Publisher: Cold Spring Harbor Laboratory
Published: 2012-01-18
Volume: 4
Issue: 3
Pages: a009886-a009886
ISSN: 1943-0264 (ISSN-L)
DOI: 10.1101/cshperspect.a009886
PMC: PMC3282414
OpenAlex: W2147140183
Cited by: 797
References: 268
Citations by year: 2026: 40 · 2025: 44 · 2024: 59 · 2023: 50 · 2022: 53 · 2021: 75 · 2020: 87 · 2019: 66 · 2018: 52 · 2017: 61 · 2016: 66 · 2015: 49 · 2014: 46 · 2013: 32 · 2012: 15
Type: posted content
Language: en
Open access: bronze
doi.org
Locations: Cold Spring Harbor Perspectives in Biology (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
Keywords: synaptic dysfunction, neurodevelopmental disorders, autism spectrum disorder, intellectual disability, syndromic autism, genetic causes of autism, neuropsychiatric features, cognitive function, genetic models, model organisms, therapeutic target
MeSH terms: Animals, Child, Child Development Disorders, Pervasive, Disease Models, Animal, Gene Expression Regulation, Humans, Intellectual Disability, Synaptic Transmission, Cell Adhesion Molecules, Neuronal

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Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

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