Role of calcium/calmodulin-dependent kinase 2 in neurodevelopmental disorders

Neuronal L-Type Calcium Channel Signaling to the Nucleus Requires a Novel CaMKIIα-Shank3 Interaction

(2020) Tyler L. Perfitt et al.   JOURNAL OF NEUROSCIENCE

Twenty Years of SynGAP Research: From Synapses to Cognition

(2020) Timothy R. Gamache et al.   JOURNAL OF NEUROSCIENCE

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Flexible linkers in CaMKII control the balance between activating and inhibitory autophosphorylation

(2020) Moitrayee Bhattacharyya et al.   eLife

Heterogeneity in human hippocampal CaMKII transcripts reveals allosteric hub-dependent regulation

(2020) Roman Sloutsky et al.   Science Signaling

Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.( P139L) of the CAMK2B gene: A case report and brief review

(2020) Susanna Rizzi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors

(2019) Eli J. Rogers et al.   Frontiers in Molecular Neuroscience

Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review

(2019) Yaser Rafiq Mir et al.   JOURNAL OF MEDICAL GENETICS

CAMK2-dependent signaling in neurons is essential for survival

(2019) Martijn J. Kool et al.   JOURNAL OF NEUROSCIENCE

Reciprocal Activation within a Kinase-Effector Complex Underlying Persistence of Structural LTP

(2019) Takeo Saneyoshi et al.   NEURON

Synapse diversity and synaptome architecture in human genetic disorders

(2019) Seth G N Grant   HUMAN MOLECULAR GENETICS

IQSEC2-Associated Intellectual Disability and Autism

(2019) Nina S. Levy et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

(2019) Muhammad Ansar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability

(2018) Wenmiao Zhu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Physiological and unappreciated roles of CaMKII in the heart

(2018) Jan Beckendorf et al.   BASIC RESEARCH IN CARDIOLOGY

Postsynaptic density proteins and their involvement in neurodevelopmental disorders

(2018) Takeshi Kaizuka et al.   JOURNAL OF BIOCHEMISTRY

Sustained CaMKII Delta Gene Expression Is Specifically Required for Long-Lasting Memories in Mice

(2018) Gisela Zalcman et al.   MOLECULAR NEUROBIOLOGY

A novel role for CAMKIIβ in the regulation of cortical neuron migration: implications for neurodevelopmental disorders

(2018) Olivier Nicole et al.   MOLECULAR PSYCHIATRY

Calmodulin shuttling mediates cytonuclear signaling to trigger experience-dependent transcription and memory

(2018) Samuel M. Cohen et al.   Nature Communications

Analysis of the CaMKIIα and β splice-variant distribution among brain regions reveals isoform-specific differences in holoenzyme formation

(2018) Sarah G. Cook et al.   Scientific Reports

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

(2018) Poh Hui Chia et al.   eLife

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders

(2018) Tenpei Akita et al.   Annals of Clinical and Translational Neurology

Reconstituted Postsynaptic Density as a Molecular Platform for Understanding Synapse Formation and Plasticity

(2018) Menglong Zeng et al.   CELL

The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function

(2018) Martina Proietti Onori et al.   HUMAN MUTATION

Architecture of the Mouse Brain Synaptome

(2018) Fei Zhu et al.   NEURON

Subunit exchange enhances information retention by CaMKII in dendritic spines

(2018) Dilawar Singh et al.   eLife

Calmodulin kinases: essential regulators in health and disease

(2017) Sayaka Takemoto-Kimura et al.   JOURNAL OF NEUROCHEMISTRY

A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors

(2017) Jason R. Stephenson et al.   JOURNAL OF NEUROSCIENCE

The CaMKII holoenzyme structure in activation-competent conformations

(2017) Janette B. Myers et al.   Nature Communications

Emerging Synaptic Molecules as Candidates in the Etiology of Neurological Disorders

(2017) Viviana I. Torres et al.   NEURAL PLASTICITY

Human GRIN2B variants in neurodevelopmental disorders

(2016) Chun Hu et al.   JOURNAL OF PHARMACOLOGICAL SCIENCES

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

IQSEC2 and X-linked syndromal intellectual disability

(2016) Aaron F. Alexander-Bloch et al.   PSYCHIATRIC GENETICS

Molecular mechanism of activation-triggered subunit exchange in Ca2+/calmodulin-dependent protein kinase II

(2016) Moitrayee Bhattacharyya et al.   eLife

The Genetic Intersection of Neurodevelopmental Disorders and Shared Medical Comorbidities – Relations that Translate from Bench to Bedside

(2016) Jasmine T. Plummer et al.   Frontiers in Psychiatry

Quantitative Proteomics Analysis of CaMKII Phosphorylation and the CaMKII Interactome in the Mouse Forebrain

(2015) Anthony J. Baucum et al.   ACS Chemical Neuroscience

Nuclear Translocation of Calcium/Calmodulin-dependent Protein Kinase IIδ3 Promoted by Protein Phosphatase-1 Enhances Brain-derived Neurotrophic Factor Expression in Dopaminergic Neurons

(2015) Norifumi Shioda et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

Rapid Dispersion of SynGAP from Synaptic Spines Triggers AMPA Receptor Insertion and Spine Enlargement during LTP

(2015) Yoichi Araki et al.   NEURON

Polymorphisms in MicroRNA Genes And Genes Involving in NMDAR Signaling and Schizophrenia: A Case-Control Study in Chinese Han Population

(2015) Yanxia Zhang et al.   Scientific 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

γCaMKII Shuttles Ca2+/CaM to the Nucleus to Trigger CREB Phosphorylation and Gene Expression

(2014) Huan Ma et al.   CELL

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation

(2014) Hane Lee et al.   HUMAN MOLECULAR GENETICS

Temporal and Region-Specific Requirements of  CaMKII in Spatial and Contextual Learning

(2014) K. G. Achterberg et al.   JOURNAL OF NEUROSCIENCE

Epigenetic Modification of Spinal miR-219 Expression Regulates Chronic Inflammation Pain by Targeting CaMKII 

(2014) Z. Pan et al.   JOURNAL OF NEUROSCIENCE

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

CaMKII: Claiming Center Stage in Postsynaptic Function and Organization

(2014) Johannes W. Hell   NEURON

Balance and Stability of Synaptic Structures during Synaptic Plasticity

(2014) Daniel Meyer et al.   NEURON

Generation and Behavior Characterization of CaMKIIβ Knockout Mice

(2014) Adam D. Bachstetter et al.   PLoS One

Emerging role of CaMKII in neuropsychiatric disease

(2014) A.J. Robison   TRENDS IN NEUROSCIENCES

GRIN2Bmutations in west syndrome and intellectual disability with focal epilepsy

(2013) Johannes R. Lemke et al.   ANNALS OF NEUROLOGY

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

(2013) Inga Freunscht et al.   Behavioral and Brain Functions

Structural studies on the regulation of Ca2+/calmodulin dependent protein kinase II

(2013) Margaret M Stratton et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability

(2013) Marie Vincent et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

(2013) Frederic Tran Mau-Them et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations of the synapse genes and intellectual disability syndromes

(2013) Chiara Verpelli et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

Synaptopathies: diseases of the synaptome

(2012) Seth GN Grant   CURRENT OPINION IN NEUROBIOLOGY

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

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

Calcium/Calmodulin-dependent Protein Kinase II (CaMKII) Inhibition Induces Neurotoxicity via Dysregulation of Glutamate/Calcium Signaling and Hyperexcitability

(2012) Nicole M. Ashpole et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Mechanisms of CaMKII action in long-term potentiation

(2012) John Lisman et al.   NATURE REVIEWS NEUROSCIENCE

Genomics, Intellectual Disability, and Autism

(2012) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Comparative Study of Human and Mouse Postsynaptic Proteomes Finds High Compositional Conservation and Abundance Differences for Key Synaptic Proteins

(2012) Àlex Bayés et al.   PLoS One

CaMKII regulation in information processing and storage

(2012) Steven J. Coultrap et al.   TRENDS IN NEUROSCIENCES

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

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

CaMKII in cerebral ischemia

(2011) Steven J Coultrap et al.   ACTA PHARMACOLOGICA SINICA

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

De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

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

A Mechanism for Tunable Autoinhibition in the Structure of a Human Ca2+/Calmodulin- Dependent Kinase II Holoenzyme

(2011) Luke H. Chao et al.   CELL

 CaMKII Plays a Nonenzymatic Role in Hippocampal Synaptic Plasticity and Learning by Targeting  CaMKII to Synapses

(2011) N. Z. Borgesius et al.   JOURNAL OF NEUROSCIENCE

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

(2010) Cheryl Shoubridge et al.   NATURE GENETICS

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

(2010) Sabine Endele et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Characterization of the proteome, diseases and evolution of the human postsynaptic density

(2010) Àlex Bayés et al.   NATURE NEUROSCIENCE

CaMKII Triggers the Diffusional Trapping of Surface AMPARs through Phosphorylation of Stargazin

(2010) Patricio Opazo et al.   NEURON

Kinase-Dead Knock-In Mouse Reveals an Essential Role of Kinase Activity of Ca2+/Calmodulin-Dependent Protein Kinase II  in Dendritic Spine Enlargement, Long-Term Potentiation, and Learning

(2009) Y. Yamagata et al.   JOURNAL OF NEUROSCIENCE

βCaMKII controls the direction of plasticity at parallel fiber–Purkinje cell synapses

(2009) Geeske M van Woerden et al.   NATURE NEUROSCIENCE

Mutations inSYNGAP1in Autosomal Nonsyndromic Mental Retardation

(2009) Fadi F. Hamdan et al.   NEW ENGLAND JOURNAL OF MEDICINE

MicroRNA-219 modulates NMDA receptor-mediated neurobehavioral dysfunction

(2009) J. Kocerha et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Regulation of Ca2+/calmodulin-dependent protein kinase II catalysis byN-methyl-D-aspartate receptor subunit 2B

(2008) Kurup K. Pradeep et al.   BIOCHEMICAL JOURNAL

Excitation control: balancing PSD-95 function at the synapse

(2008) Dove Keith   Frontiers in Molecular Neuroscience