Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles

Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations

(2019) Laura Gouder et al.   Scientific Reports

Genetic compensation triggered by mutant mRNA degradation

(2019) Mohamed A. El-Brolosy et al.   NATURE

Atypical behaviour and connectivity in SHANK3-mutant macaques

(2019) Yang Zhou et al.   NATURE

Targeting Peripheral Somatosensory Neurons to Improve Tactile-Related Phenotypes in ASD Models

(2019) Lauren L. Orefice et al.   CELL

VITALITY-ALS, a phase III trial of tirasemtiv, a selective fast skeletal muscle troponin activator, as a potential treatment for patients with amyotrophic lateral sclerosis: study design and baseline characteristics

(2018) Jinsy A. Andrews et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Molecular Mechanisms of Lithium Action: Switching the Light on Multiple Targets for Dementia Using Animal Models

(2018) Fiona Kerr et al.   Frontiers in Molecular Neuroscience

Towards a Unified Understanding of Lithium Action in Basic Biology and its Significance for Applied Biology

(2017) Eric Jakobsson et al.   JOURNAL OF MEMBRANE BIOLOGY

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

(2017) A Kathuria et al.   MOLECULAR PSYCHIATRY

Cell diversity and network dynamics in photosensitive human brain organoids

(2017) Giorgia Quadrato et al.   NATURE

Genetic compensation: A phenomenon in search of mechanisms

(2017) Mohamed A. El-Brolosy et al.   PLoS Genetics

Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat

(2017) Hala Harony-Nicolas et al.   eLife

Zinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK3

(2017) Stefanie Pfaender et al.   Scientific Reports

Lithium Pharmacogenetics: Where Do We Stand?

(2016) Claudia Pisanu et al.   DRUG DEVELOPMENT RESEARCH

Shank3 is localized in axons and presynaptic specializations of developing hippocampal neurons and involved in the modulation of NMDA receptor levels at axon terminals

(2016) Sonja Halbedl et al.   JOURNAL OF NEUROCHEMISTRY

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

(2016) C Vicidomini et al.   MOLECULAR PSYCHIATRY

Adult restoration of Shank3 expression rescues selective autistic-like phenotypes

(2016) Yuan Mei et al.   NATURE

Mice with Shank3 Mutations Associated with ASD and Schizophrenia Display Both Shared and Distinct Defects

(2016) Yang Zhou et al.   NEURON

CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency

(2016) Michael Bidinosti et al.   SCIENCE

FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons

(2016) Julia Higelin et al.   Frontiers in Cellular Neuroscience

Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism

(2016) Xiaoming Wang et al.   Nature Communications

Actin-Dependent Alterations of Dendritic Spine Morphology in Shankopathies

(2016) Tasnuva Sarowar et al.   NEURAL PLASTICITY

Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome

(2016) Hélène Darville et al.   EBioMedicine

Phospholipase Cβ1b directly binds the SH3 domain of Shank3 for targeting and activation in cardiomyocytes

(2015) David R. Grubb et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports

(2015) Sylvie Serret et al.   BMC Psychiatry

FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders

(2015) Jessica Mariani et al.   CELL

Cas9-chromatin binding information enables more accurate CRISPR off-target prediction

(2015) Ritambhara Singh et al.   NUCLEIC ACIDS RESEARCH

Mechanisms Regulating Neuromuscular Junction Development and Function and Causes of Muscle Wasting

(2015) Lionel A. Tintignac et al.   PHYSIOLOGICAL REVIEWS

Shank3-mutant mice lacking exon 9 show altered excitation/inhibition balance, enhanced rearing, and spatial memory deficit

(2015) Jiseok Lee et al.   Frontiers in Cellular Neuroscience

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

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

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

(2015) Daniela M Cochoy et al.   Molecular Autism

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

(2014) Stefanie Grabrucker et al.   EXPERIMENTAL NEUROLOGY

FindFoci: A Focus Detection Algorithm with Automated Parameter Training That Closely Matches Human Assignments, Reduces Human Inconsistencies and Increases Speed of Analysis

(2014) Alex D. Herbert et al.   PLoS One

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

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

Derivation of Myogenic Progenitors Directly From Human Pluripotent Stem Cells Using a Sphere-Based Culture

(2014) Tohru Hosoyama et al.   Stem Cells Translational Medicine

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

scikit-image: image processing in Python

(2014) Stéfan van der Walt et al.   PeerJ

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

Lithium in the prevention of suicide in mood disorders: updated systematic review and meta-analysis

(2013) A. Cipriani et al.   BMJ-British Medical Journal

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

(2013) Latha Soorya et al.   Molecular Autism

Application of DSM-5 Criteria for Autism Spectrum Disorder to Three Samples of Children With DSM-IV Diagnoses of Pervasive Developmental Disorders

(2012) Marisela Huerta et al.   AMERICAN JOURNAL OF PSYCHIATRY

Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2

(2012) Michael J. Schmeisser et al.   NATURE

Molecular mechanisms underlying maturation and maintenance of the vertebrate neuromuscular junction

(2012) Lei Shi et al.   TRENDS IN NEUROSCIENCES

Building Muscle: Molecular Regulation of Myogenesis

(2012) C. F. Bentzinger et al.   Cold Spring Harbor Perspectives in Biology

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

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

Importance of Shank3 Protein in Regulating Metabotropic Glutamate Receptor 5 (mGluR5) Expression and Signaling at Synapses

(2011) Chiara Verpelli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Lentiviral Vector Design and Imaging Approaches to Visualize the Early Stages of Cellular Reprogramming

(2011) Eva Warlich et al.   MOLECULAR THERAPY

Developmental and Functional Nature of Human iPSC Derived Motoneurons

(2011) Marianne Stockmann et al.   Stem Cell Reviews and Reports

Rat Embryonic Fibroblasts Improve Reprogramming of Human Keratinocytes into Induced Pluripotent Stem Cells

(2011) Leonhard Linta et al.   STEM CELLS AND DEVELOPMENT

EBImage--an R package for image processing with applications to cellular phenotypes

(2010) G. Pau et al.   BIOINFORMATICS

Proline-rich synapse-associated protein-1 and 2 (ProSAP1/Shank2 and ProSAP2/Shank3)—scaffolding proteins are also present in postsynaptic specializations of the peripheral nervous system

(2010) M. Raab et al.   NEUROSCIENCE

Synaptogenesis of hippocampal neurons in primary cell culture

(2009) Andreas Grabrucker et al.   CELL AND TISSUE RESEARCH

Differentiation of spinal motor neurons from pluripotent human stem cells

(2009) Bao-Yang Hu et al.   Nature Protocols

The Floppy Infant: Evaluation of Hypotonia

(2009) D. E. Peredo et al.   PEDIATRICS IN REVIEW

Gamma and alpha motor neurons distinguished by expression of transcription factor Err3

(2009) A. Friese et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Efficient and rapid generation of induced pluripotent stem cells from human keratinocytes

(2008) Trond Aasen et al.   NATURE BIOTECHNOLOGY

Deletion 22q13.3 syndrome

(2008) Mary C Phelan   Orphanet Journal of Rare Diseases