Cited by 169Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Molecular mechanisms of autism: a possible role for Ca2+ signaling

Krey, Jocelyn F, Dolmetsch, Ricardo E·2007·Current Opinion in Neurobiology

Abstract

Autism spectrum disorders (ASDs) are a group of developmental disorders characterized by social and emotional deficits, language impairments and stereotyped behaviors that manifest in early postnatal life. The molecular mechanisms that underlie ASDs are not known, but several recent developments suggest that some forms of autism are caused by failures in activity-dependent regulation of neural development. Mutations of several voltage-gated and ligand-gated ion channels that regulate neuronal excitability and Ca2+ signaling have been associated with ASDs. In addition, Ca2+-regulated signaling proteins involved in synapse formation and dendritic growth have been implicated in ASDs. These recent advances suggest a set of signaling pathways that might have a role in generating these increasingly prevalent disorders.

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Crossref · 10.1016/j.conb.2007.01.010

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83 of 83 references verified0 citation errors · 0 not checkable

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  • Several lines of evidence, including rare mutations affecting calcium conductance in humans, indicate excessive Ca2+ signalling plays a pivotal role in the pathophysiology of autism.

    “Several lines of evidence, including rare mutations affecting calcium (Ca2+) conductance in humans, indicate that excessive Ca2+ signalling plays a pivotal role in the pathophysiology of autism [243].”
  • Timothy Syndrome-causing point mutations in CACNA1C disrupt development of neuronal dendrites, bone, and skin, and also affect ongoing electrical function in heart and brain.

    “For example, point mutations in CACNA1C that underlie Timothy Syndrome perturb the development of neuronal dendrites (Krey and Dolmetsch, 2007), bones (Ramachandran et al., 2013), and skin (Yucel et al., 2013), as well as ongoing electrophysiological function of heart and brain (Krey and Dolmetsch, 2007; Splawski et al., 2005; Splawski et al., 2004).”

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Authors
Krey, J. F., & Dolmetsch, R. E.
Affiliations
Stanford Medicine (US)
Corresponding author
Dolmetsch, Ricardo E
Venue
Current Opinion in Neurobiology
Publisher
Elsevier BV
Published
2007-02
Volume
17
Issue
1
Pages
112-119
ISSN
0959-4388 (ISSN-L)
OpenAlex
W2075296758
Cited by
169
References
83
Citations by year
2026: 3 · 2025: 4 · 2024: 4 · 2023: 5 · 2022: 3 · 2021: 8 · 2020: 12 · 2019: 7 · 2018: 9 · 2017: 8 · 2016: 11 · 2015: 13 · 2014: 6 · 2013: 14 · 2012: 13
FWCI
0.96
Type
journal article
Language
en
Open access
closed
Locations
  • Current Opinion in Neurobiology (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • McKnight Foundation
  • National Institutes of Health
  • National Institute of Neurological Disorders and Stroke (R01NS048564)
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
Keywords
autism spectrum disorder, calcium signaling, ion channels, voltage-gated ion channels, ligand-gated ion channels, neuronal excitability, synaptogenesis, dendritic growth, neural development, activity-dependent regulation
MeSH terms
Autistic Disorder, Brain, Cell Differentiation, Environment, Humans, Ion Channels, Synaptic Transmission, Synapses, Receptors, Neurotransmitter, Calcium Signaling

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