Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID

Translational neurobiology in Shank mutant mice - Model systems for neuropsychiatric disorders

(2015) Michael J. Schmeisser   ANNALS OF ANATOMY-ANATOMISCHER ANZEIGER

The PSD protein ProSAP2/Shank3 displays synapto-nuclear shuttling which is deregulated in a schizophrenia-associated mutation

(2014) Stefanie Grabrucker et al.   EXPERIMENTAL NEUROLOGY

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

Neurobiology of autism gene products: towards pathogenesis and drug targets

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

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

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

Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice

(2014) Xiaoming Wang et al.   Molecular Autism

Organizing Principles of Mammalian Nonsense-Mediated mRNA Decay

(2013) Maximilian Wei-Lin Popp et al.   Annual Review of Genetics

The Genetic Landscapes of Autism Spectrum Disorders

(2013) Guillaume Huguet et al.   Annual Review of Genomics and Human Genetics

SHANK3Gene Mutations Associated with Autism Facilitate Ligand Binding to the Shank3 Ankyrin Repeat Region

(2013) Marie Germaine Mameza et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Loss of Predominant Shank3 Isoforms Results in Hippocampus-Dependent Impairments in Behavior and Synaptic Transmission

(2013) M. Kouser et al.   JOURNAL OF NEUROSCIENCE

The Nedd4-binding protein 3 (N4BP3) is crucial for axonal and dendritic branching in developing neurons

(2013) Michael J Schmeisser et al.   Neural Development

Modeling Autism by SHANK Gene Mutations in Mice

(2013) Yong-hui Jiang et al.   NEURON

DSM-5 and autism spectrum disorders (ASDs): an opportunity for identifying ASD subtypes

(2013) Rebecca Grzadzinski et al.   Molecular Autism

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

(2013) Catalina Betancur et al.   Molecular Autism

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

(2013) Latha Soorya et al.   Molecular Autism

SHANK1 Deletions in Males with Autism Spectrum Disorder

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

Complex autism spectrum disorder in a patient with a 17q12 microduplication

(2012) Tracy Brandt et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic architecture in autism spectrum disorder

(2012) Bernie Devlin et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

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

Autism-Associated Mutations in ProSAP2/Shank3 Impair Synaptic Transmission and Neurexin-Neuroligin-Mediated Transsynaptic Signaling

(2012) M. H. Arons et al.   JOURNAL OF NEUROSCIENCE

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturation

(2011) Andreas M Grabrucker et al.   EMBO JOURNAL

Amyloid beta protein-induced zinc sequestration leads to synaptic loss via dysregulation of the ProSAP2/Shank3 scaffold

(2011) Andreas M Grabrucker et al.   Molecular Neurodegeneration

SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism

(2011) C M Durand et al.   MOLECULAR PSYCHIATRY

Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies

(2011) Andreas M. Grabrucker et al.   TRENDS IN CELL BIOLOGY

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

(2010) Catalina Betancur   BRAIN RESEARCH

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

(2010) Simone Berkel et al.   NATURE GENETICS

Genetically encoded dendritic marker sheds light on neuronal connectivity in Drosophila

(2010) L. J. J. Nicolai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

De novo mutations in the gene encoding the synaptic scaffolding proteinSHANK3in patients ascertained for schizophrenia

(2010) Julie Gauthier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Synaptic Cross-talk betweenN-Methyl-d-aspartate Receptors and LAPSER1-β-Catenin at Excitatory Synapses

(2009) Michael J. Schmeisser et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2009) Catalina Betancur et al.   TRENDS IN NEUROSCIENCES