Involvement of Synaptic Genes in the Pathogenesis of Autism Spectrum Disorders: The Case of Synapsins

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

(2014) Dalila Pinto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phosphorylation of Synapsin I by Cyclin-Dependent Kinase-5 Sets the Ratio between the Resting and Recycling Pools of Synaptic Vesicles at Hippocampal Synapses

(2014) A. M. J. Verstegen et al.   JOURNAL OF NEUROSCIENCE

Neurobiology of autism gene products: towards pathogenesis and drug targets

(2014) Kristel T. E. Kleijer et al.   PSYCHOPHARMACOLOGY

Genetic aspects of autism spectrum disorders: insights from animal models

(2014) Swati Banerjee et al.   Frontiers in Cellular Neuroscience

Autism genetics

(2013) Antonio M. Persico et al.   BEHAVIOURAL BRAIN RESEARCH

Sensitive and critical periods in the development of handling induced seizures in mice lacking synapsins: Differences between synapsin I and synapsin II knockouts

(2013) Lars Etholm et al.   EXPERIMENTAL NEUROLOGY

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

(2013) Anna Corradi et al.   HUMAN MOLECULAR GENETICS

Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity

(2013) Gabriele Lignani et al.   HUMAN MOLECULAR GENETICS

Progress toward treatments for synaptic defects in autism

(2013) Richard Delorme et al.   NATURE MEDICINE

Modeling Autism by SHANK Gene Mutations in Mice

(2013) Yong-hui Jiang et al.   NEURON

Nonsense-Mediated mRNA Decay and Loss-of-Function of the Protein Underlie the X-Linked Epilepsy Associated with the W356× Mutation in Synapsin I

(2013) Maila Giannandrea et al.   PLoS One

Synapsin II desynchronizes neurotransmitter release at inhibitory synapses by interacting with presynaptic calcium channels

(2013) Lucian Medrihan et al.   Nature Communications

Channelopathy pathogenesis in autism spectrum disorders

(2013) Galina Schmunk et al.   Frontiers in Genetics

SHANK1 Deletions in Males with Autism Spectrum Disorder

(2012) Daisuke Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autism-related behavioral abnormalities in synapsin knockout mice

(2012) Barbara Greco et al.   BEHAVIOURAL BRAIN RESEARCH

Cadherins and neuropsychiatric disorders

(2012) Christoph Redies et al.   BRAIN RESEARCH

Genes associated with autism spectrum disorder

(2012) Xiaohong Li et al.   BRAIN RESEARCH BULLETIN

Synaptic and Extrasynaptic Origin of the Excitation/Inhibition Imbalance in the Hippocampus of Synapsin I/II/III Knockout Mice

(2012) P. Farisello et al.   CEREBRAL CORTEX

Temporal evolution of neurophysiological and behavioral features of synapsin I/II/III triple knock-out mice

(2012) Marco Cambiaghi et al.   EPILEPSY RESEARCH

Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

(2012) Martin H. Berryer et al.   HUMAN MUTATION

GABA system dysfunction in autism and related disorders: From synapse to symptoms

(2012) Suzanne Coghlan et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development

(2012) G. R. Anderson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

(2012) H. Y. Zoghbi et al.   Cold Spring Harbor Perspectives in Biology

De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

(2011) Fadi F. Hamdan et al.   BIOLOGICAL PSYCHIATRY

Retinitis Pigmentosa: Genes and Disease Mechanisms

(2011) Francesco Parmeggiani et al.   CURRENT GENOMICS

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

(2011) Anna Fassio et al.   HUMAN MOLECULAR GENETICS

Functional gene group analysis identifies synaptic gene groups as risk factor for schizophrenia

(2011) E S Lips et al.   MOLECULAR PSYCHIATRY

Synapsins: From synapse to network hyperexcitability and epilepsy

(2011) Anna Fassio et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Synapsin III: Role in neuronal plasticity and disease

(2011) Barbara Porton et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

The contribution of GABAergic dysfunction to neurodevelopmental disorders

(2011) Kartik Ramamoorthi et al.   TRENDS IN MOLECULAR MEDICINE

Alterations of GABAergic Signaling in Autism Spectrum Disorders

(2011) Rocco Pizzarelli et al.   NEURAL PLASTICITY

Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Ability

(2010) Dina Ruano et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

(2010) Hsiao-Tuan Chao et al.   NATURE

The synapsins: Key actors of synapse function and plasticity

(2010) F. Cesca et al.   PROGRESS IN NEUROBIOLOGY

The highly conserved synapsin domain E mediates synapsin dimerization and phospholipid vesicle clustering

(2009) Ilaria Monaldi et al.   BIOCHEMICAL JOURNAL

The role of synapsins in neuronal development

(2009) Eugenio F. Fornasiero et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Mice lacking synapsin III show abnormalities in explicit memory and conditioned fear

(2009) B. Porton et al.   GENES BRAIN AND BEHAVIOR

The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders

(2009) Pat Levitt et al.   JOURNAL OF CLINICAL INVESTIGATION

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

(2009) R. A. Kumar et al.   JOURNAL OF MEDICAL GENETICS

The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders

(2009) Catalina Betancur et al.   TRENDS IN NEUROSCIENCES

Opposite Changes in Glutamatergic and GABAergic Transmission Underlie the Diffuse Hyperexcitability of Synapsin I–Deficient Cortical Networks

(2008) Michela Chiappalone et al.   CEREBRAL CORTEX

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

(2008) A. Piton et al.   HUMAN MOLECULAR GENETICS

Synapsin-I- and synapsin-II-null mice display an increased age-dependent cognitive impairment

(2008) A. Corradi et al.   JOURNAL OF CELL SCIENCE

Neuroligins and neurexins link synaptic function to cognitive disease

(2008) Thomas C. Südhof   NATURE

Advances in autism genetics: on the threshold of a new neurobiology

(2008) Brett S. Abrahams et al.   NATURE REVIEWS GENETICS

Synapsin-dependent development of glutamatergic synaptic vesicles and presynaptic plasticity in postnatal mouse brain

(2008) I.L. Bogen et al.   NEUROSCIENCE

Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: A potential model of autism spectrum disorder

(2007) T DELOREY et al.   BEHAVIOURAL BRAIN RESEARCH