Stem cell-derived neurons from autistic individuals with SHANK3 mutation show morphogenetic abnormalities during early development

Pharmacological enhancement of mGlu5 receptors rescues behavioral deficits in SHANK3 knock-out mice

(2016) C Vicidomini et al.   MOLECULAR PSYCHIATRY

CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency

(2016) Michael Bidinosti et al.   SCIENCE

Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons

(2016) F. Yi et al.   SCIENCE

Phelan–McDermid Syndrome and SHANK3: Implications for Treatment

(2015) Jesse L. Costales et al.   Neurotherapeutics

Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators

(2015) Lara J. Duffney et al.   Cell Reports

Neuronal nucleus and cytoplasm volume deficit in children with autism and volume increase in adolescents and adults

(2015) Jerzy Wegiel et al.   Acta Neuropathologica Communications

Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

(2015) Sergio I. Nemirovsky et al.   PLoS One

Elevated fetal steroidogenic activity in autism

(2014) S Baron-Cohen et al.   MOLECULAR PSYCHIATRY

Steering cell migration: lamellipodium dynamics and the regulation of directional persistence

(2014) Matthias Krause et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Capture of microtubule plus-ends at the actin cortex promotes axophilic neuronal migration by enhancing microtubule tension in the leading process

(2014) B. Ian Hutchins et al.   Frontiers in Cellular Neuroscience

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

(2014) Claire S. Leblond et al.   PLoS Genetics

Association of gestational maternal hypothyroxinemia and increased autism risk

(2013) Gustavo C. Román et al.   ANNALS OF NEUROLOGY

Actin Filament Severing by Cofilin Dismantles Actin Patches and Produces Mother Filaments for New Patches

(2013) Qian Chen et al.   CURRENT BIOLOGY

Calcium Release-Dependent Actin Flow in the Leading Process Mediates Axophilic Migration

(2013) B. I. Hutchins et al.   JOURNAL OF NEUROSCIENCE

Shank3 Deficiency Induces NMDA Receptor Hypofunction via an Actin-Dependent Mechanism

(2013) L. J. Duffney et al.   JOURNAL OF NEUROSCIENCE

SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

(2013) Aleksandr Shcheglovitov et al.   NATURE

Modeling Autism by SHANK Gene Mutations in Mice

(2013) Yong-hui Jiang et al.   NEURON

The utility of patient specific induced pluripotent stem cells for the modelling of Autistic Spectrum Disorders

(2013) Graham Cocks et al.   PSYCHOPHARMACOLOGY

SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders

(2013) Catalina Betancur et al.   Molecular Autism

SHANK3 as an autism spectrum disorder-associated gene

(2012) Shigeo Uchino et al.   BRAIN & DEVELOPMENT

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

(2012) Luigi Boccuto et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent Shank3 Null Mutant Mice

(2012) M. Yang et al.   JOURNAL OF NEUROSCIENCE

Modeling psychiatric disorders at the cellular and network levels

(2012) K J Brennand et al.   MOLECULAR PSYCHIATRY

Directed differentiation of human pluripotent stem cells to cerebral cortex neurons and neural networks

(2012) Yichen Shi et al.   Nature Protocols

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

(2011) Joachim Hallmayer   ARCHIVES OF GENERAL PSYCHIATRY

Diminished Gray Matter Within the Hypothalamus in Autism Disorder: A Potential Link to Hormonal Effects?

(2011) Florian Kurth et al.   BIOLOGICAL PSYCHIATRY

The spatio-temporal expression of ProSAP/shank family members and their interaction partner LAPSER1 during Xenopus laevis development

(2011) Susanne Gessert et al.   DEVELOPMENTAL DYNAMICS

Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

(2011) Aaron Y.L. Cheung et al.   HUMAN MOLECULAR GENETICS

Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

(2011) Xiaoming Wang et al.   HUMAN MOLECULAR GENETICS

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

Experience-Dependent Retinogeniculate Synapse Remodeling Is Abnormal in MeCP2-Deficient Mice

(2011) Joao Noutel et al.   NEURON

Isogenic Pairs of Wild Type and Mutant Induced Pluripotent Stem Cell (iPSC) Lines from Rett Syndrome Patients as In Vitro Disease Model

(2011) Gene Ananiev et al.   PLoS One

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

(2011) Ozlem Bozdagi et al.   Molecular Autism

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

(2010) Catalina Betancur   BRAIN RESEARCH

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

(2010) Maria C.N. Marchetto et al.   CELL

From Nose to Brain: Development of Gonadotrophin-Releasing Hormone -1 Neurones

(2010) S. Wray   JOURNAL OF NEUROENDOCRINOLOGY

Changes in the Developmental Trajectories of Striatum in Autism

(2009) Marieke Langen et al.   BIOLOGICAL PSYCHIATRY

A synaptic trek to autism

(2009) Thomas Bourgeron   CURRENT OPINION IN NEUROBIOLOGY