Rho GTPases in Intellectual Disability: From Genetics to Therapeutic Opportunities

PlexinD1 signaling controls morphological changes and migration termination in newborn neurons

(2018) Masato Sawada et al.   EMBO JOURNAL

Generalized epilepsy and mild intellectual disability associated with 13q34 deletion: A potential role for SOX1 and ARHGEF7

(2018) A. Orsini et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Hyperactivity of Rac1-GTPase pathway impairs neuritogenesis of cortical neurons by altering actin dynamics

(2018) Valentina Zamboni et al.   Scientific Reports

Mind the (sr)GAP – roles of Slit–Robo GAPs in neurons, brains and beyond

(2017) Bethany Lucas et al.   JOURNAL OF CELL SCIENCE

Gene networks associated with non-syndromic intellectual disability

(2017) Soohyun Lee et al.   JOURNAL OF NEUROGENETICS

The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures

(2017) Karl Martin Klein et al.   JOURNAL OF NEUROLOGY

A dual role for the RhoGEF Ephexin5 in regulation of dendritic spine outgrowth

(2017) A.M. Hamilton et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Spatiotemporal profile of postsynaptic interactomes integrates components of complex brain disorders

(2017) Jing Li et al.   NATURE NEUROSCIENCE

Pharmacological rescue of adult hippocampal neurogenesis in a mouse model of X-linked intellectual disability

(2017) Manuela Allegra et al.   NEUROBIOLOGY OF DISEASE

Aberrant Rac1-cofilin signaling mediates defects in dendritic spines, synaptic function, and sensory perception in fragile X syndrome

(2017) Alexander Pyronneau et al.   Science Signaling

An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio

(2017) Anastasiia Sadybekov et al.   Nature Communications

Rho GTPases as therapeutic targets in Alzheimer’s disease

(2017) Byron J. Aguilar et al.   Alzheimers Research & Therapy

RhoGEF9 splice isoforms influence neuronal maturation and synapse formation downstream of α2 GABAA receptors

(2017) Claire de Groot et al.   PLoS Genetics

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

(2017) Ethiraj Ravindran et al.   PLoS Genetics

Aberrant Rac1-cofilin signaling mediates defects in dendritic spines, synaptic function, and sensory perception in fragile X syndrome

(2017) Alexander Pyronneau et al.   Science Signaling

RhoGTPase Regulators Orchestrate Distinct Stages of Synaptic Development

(2017) Samuel Martin-Vilchez et al.   PLoS One

Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability

(2016) Hamid Meziane et al.   HUMAN MOLECULAR GENETICS

Mutations specific to the Rac-GEF domain ofTRIOcause intellectual disability and microcephaly

(2016) Reuben J Pengelly et al.   JOURNAL OF MEDICAL GENETICS

Behavioural effects of basal ganglia rho-kinase inhibition in the unilateral 6-hydroxydopamine rat model of Parkinson’s disease

(2016) Salim Yalcin Inan et al.   METABOLIC BRAIN DISEASE

The Rac-GAP alpha2-chimaerin regulates hippocampal dendrite and spine morphogenesis

(2016) Chris M. Valdez et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

Inability to activate Rac1-dependent forgetting contributes to behavioral inflexibility in mutants of multiple autism-risk genes

(2016) Tao Dong et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ARHGAP12 Functions as a Developmental Brake on Excitatory Synapse Function

(2016) W. Ba et al.   Cell Reports

Enlarged dendritic spines and pronounced neophobia in mice lacking the PSD protein RICH2

(2016) Tasnuva Sarowar et al.   Molecular Brain

Control of Dendritic Spine Morphological and Functional Plasticity by Small GTPases

(2016) Kevin M. Woolfrey et al.   NEURAL PLASTICITY

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

(2016) Philip Long et al.   Frontiers in Molecular Neuroscience

Fasudil attenuates aggregation of α-synuclein in models of Parkinson’s disease

(2016) Lars Tatenhorst et al.   Acta Neuropathologica Communications

Imbalance in chemical space: How to facilitate the identification of protein-protein interaction inhibitors

(2016) Mélaine A. Kuenemann et al.   Scientific Reports

Liprin-α1 and ERC1 control cell edge dynamics by promoting focal adhesion turnover

(2016) Veronica Astro et al.   Scientific Reports

Disruption of ArhGAP15 results in hyperactive Rac1, affects the architecture and function of hippocampal inhibitory neurons and causes cognitive deficits

(2016) Valentina Zamboni et al.   Scientific Reports

Trio gene is required for mouse learning ability

(2015) Wen Zong et al.   BRAIN RESEARCH

Loss of Either Rac1 or Rac3 GTPase Differentially Affects the Behavior of Mutant Mice and the Development of Functional GABAergic Networks

(2015) Roberta Pennucci et al.   CEREBRAL CORTEX

Anillin Regulates Neuronal Migration and Neurite Growth by Linking RhoG to the Actin Cytoskeleton

(2015) Dong Tian et al.   CURRENT BIOLOGY

The biology of IQGAP proteins: beyond the cytoskeleton

(2015) A. C. Hedman et al.   EMBO REPORTS

Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism

(2015) Camila Oliveira Freitas Machado et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Modulation of Rho GTPases rescues brain mitochondrial dysfunction, cognitive deficits and aberrant synaptic plasticity in female mice modeling Rett syndrome

(2015) Bianca De Filippis et al.   EUROPEAN NEUROPSYCHOPHARMACOLOGY

Roles of LIM kinases in central nervous system function and dysfunction

(2015) H. Cuberos et al.   FEBS LETTERS

TRIOloss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

(2015) Wei Ba et al.   HUMAN MOLECULAR GENETICS

ROCK1 and 2 differentially regulate actomyosin organization to drive cell and synaptic polarity

(2015) Karen A. Newell-Litwa et al.   JOURNAL OF CELL BIOLOGY

Hsc70 chaperone activity underlies Trio GEF function in axon growth and guidance induced by netrin-1

(2015) Jonathan DeGeer et al.   JOURNAL OF CELL BIOLOGY

Modulation of actin dynamics by Rac1 to target cognitive function

(2015) Maria V. Tejada-Simon   JOURNAL OF NEUROCHEMISTRY

The RhoGEF DOCK10 is essential for dendritic spine morphogenesis

(2015) Fanny Jaudon et al.   MOLECULAR BIOLOGY OF THE CELL

NOMA-GAP/ARHGAP33 regulates synapse development and autistic-like behavior in the mouse

(2015) S Schuster et al.   MOLECULAR PSYCHIATRY

Reversing excitatory GABAAR signaling restores synaptic plasticity and memory in a mouse model of Down syndrome

(2015) Gabriele Deidda et al.   NATURE MEDICINE

Rho GTPase RAC1 at the Molecular Interface Between Genetic and Environmental Factors of Autism Spectrum Disorders

(2015) Fares Zeidán-Chuliá et al.   NEUROMOLECULAR MEDICINE

Alpha1-chimaerin, a Rac1 GTPase-activating protein, is expressed at reduced mRNA levels in the brain of Alzheimer’s disease patients

(2015) Tomoko Kato et al.   NEUROSCIENCE LETTERS

Plasma membrane-associated platforms: Dynamic scaffolds that organize membrane-associated events

(2015) V. Astro et al.   Science Signaling

Regulation of cerebral cortex development by Rho GTPases: insights from in vivo studies

(2015) Roberta Azzarelli et al.   Frontiers in Cellular Neuroscience

Plasma membrane-associated platforms: Dynamic scaffolds that organize membrane-associated events

(2015) V. Astro et al.   Science Signaling

Rac-GTPases Regulate Microtubule Stability and Axon Growth of Cortical GABAergic Interneurons

(2014) Simona Tivodar et al.   CEREBRAL CORTEX

The X-linked Mental Retardation Protein OPHN1 Interacts with Homer1b/c to Control Spine Endocytic Zone Positioning and Expression of Synaptic Potentiation

(2014) A. Nakano-Kobayashi et al.   JOURNAL OF NEUROSCIENCE

Linking neocortical, cognitive, and genetic variability in autism with alterations of brain plasticity: The Trigger-Threshold-Target model

(2014) Laurent Mottron et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Aberrant Rho GTPases signaling and cognitive dysfunction: In vivo evidence for a compelling molecular relationship

(2014) Bianca De Filippis et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: An overview of Down syndrome, autism, Fragile X and Rett syndrome

(2014) Daniela Valenti et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms

(2014) Anand K. Srivastava et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Oligophrenin-1 (OPHN1), a Gene Involved in X-Linked Intellectual Disability, Undergoes RNA Editing and Alternative Splicing during Human Brain Development

(2014) Sabina Barresi et al.   PLoS One

Cytoskeletal Regulation by AUTS2 in Neuronal Migration and Neuritogenesis

(2014) Kei Hori et al.   Cell Reports

The rho kinase inhibitor Y-27632 improves motor performance in male SOD1G93A mice

(2014) René Günther et al.   Frontiers in Neuroscience

New innovations: Therapeutic opportunities for intellectual disabilities

(2013) Jonathan D. Picker et al.   ANNALS OF NEUROLOGY

Conversion of a Signal into Forces for Axon Outgrowth through Pak1-Mediated Shootin1 Phosphorylation

(2013) Michinori Toriyama et al.   CURRENT BIOLOGY

Rho GTPase signaling at the synapse: Implications for intellectual disability

(2013) Wei Ba et al.   EXPERIMENTAL CELL RESEARCH

Rho-GTPase-activating Protein Interacting with Cdc-42-interacting Protein 4 Homolog 2 (Rich2)

(2013) Fabrice Raynaud et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rac1-mediated indentation of resting neurons promotes the chain migration of new neurons in the rostral migratory stream of post-natal mouse brain

(2013) Takao Hikita et al.   JOURNAL OF NEUROCHEMISTRY

Developmental vulnerability of synapses and circuits associated with neuropsychiatric disorders

(2013) Peter Penzes et al.   JOURNAL OF NEUROCHEMISTRY

Actin dynamics in growth cone motility and navigation

(2013) Timothy M. Gomez et al.   JOURNAL OF NEUROCHEMISTRY

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

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

Systemic Delivery of MeCP2 Rescues Behavioral and Cellular Deficits in Female Mouse Models of Rett Syndrome

(2013) S. K. Garg et al.   JOURNAL OF NEUROSCIENCE

Epigenetic regulation of RAC1 induces synaptic remodeling in stress disorders and depression

(2013) Sam A Golden et al.   NATURE MEDICINE

CYFIP1 Coordinates mRNA Translation and Cytoskeleton Remodeling to Ensure Proper Dendritic Spine Formation

(2013) Silvia De Rubeis et al.   NEURON

Lack of the presynaptic RhoGAP protein oligophrenin1 leads to cognitive disabilities through dysregulation of the cAMP/PKA signalling pathway

(2013) M. Khelfaoui et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Rho GTPase-dependent plasticity of dendritic spines in the adult brain

(2013) Assunta Martino et al.   Frontiers in Cellular Neuroscience

Hace1 controls ROS generation of vertebrate Rac1-dependent NADPH oxidase complexes

(2013) Mads Daugaard et al.   Nature Communications

Behavioral effects of Rho GTPase modulation in a model of Alzheimer's disease

(2012) Marco Musilli et al.   BEHAVIOURAL BRAIN RESEARCH

Inhibition of SRGAP2 Function by Its Human-Specific Paralogs Induces Neoteny during Spine Maturation

(2012) Cécile Charrier et al.   CELL

Rac1 and Rac3 GTPases Control Synergistically the Development of Cortical and Hippocampal GABAergic Interneurons

(2012) Valentina Vaghi et al.   CEREBRAL CORTEX

Myo9b and RICS Modulate Dendritic Morphology of Cortical Neurons

(2012) Hui Long et al.   CEREBRAL CORTEX

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

Neocortical dendritic complexity is controlled during development by NOMA-GAP-dependent inhibition of Cdc42 and activation of cofilin

(2012) M. Rosario et al.   GENES & DEVELOPMENT

Deciphering the Molecular and Functional Basis of Dbl Family Proteins

(2012) Mamta Jaiswal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Alteration of Synaptic Network Dynamics by the Intellectual Disability Protein PAK3

(2012) A. Dubos et al.   JOURNAL OF NEUROSCIENCE

Tyrosine Phosphorylation of the Rho Guanine Nucleotide Exchange Factor Trio Regulates Netrin-1/DCC-Mediated Cortical Axon Outgrowth

(2012) J. DeGeer et al.   MOLECULAR AND CELLULAR BIOLOGY

Down syndrome: the brain in trisomic mode

(2012) Mara Dierssen   NATURE REVIEWS NEUROSCIENCE

Involvement of microglial RhoA/Rho-Kinase pathway activation in the dopaminergic neuron death. Role of angiotensin via angiotensin type 1 receptors

(2012) Begoña Villar-Cheda et al.   NEUROBIOLOGY OF DISEASE

Long-lasting efficacy of the cognitive enhancer Cytotoxic Necrotizing Factor 1

(2012) Sonia Borrelli et al.   NEUROPHARMACOLOGY

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report

(2012) Milene Mulatinho et al.   Molecular Cytogenetics

Genetic and Epigenetic Networks in Intellectual Disabilities

(2011) Hans van Bokhoven   Annual Review of Genetics

Modulation of dendritic spines and synaptic function by Rac1: A possible link to Fragile X syndrome pathology

(2011) Odelia Y.N. Bongmba et al.   BRAIN RESEARCH

Rac1-Dependent Cell Cycle Exit of MGE Precursors and GABAergic Interneuron Migration to the Cortex

(2011) Marina Vidaki et al.   CEREBRAL CORTEX

Animal models of intellectual disability: towards a translational approach

(2011) Carla A. Scorza et al.   Clinics

Molecular mechanisms of cognitive and behavioral comorbidities of epilepsy in children

(2011) Amy Brooks-Kayal   EPILEPSIA

The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPδ and RhoGAP2

(2011) Pamela Valnegri et al.   HUMAN MOLECULAR GENETICS

Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits

(2011) Ger J.A. Ramakers et al.   HUMAN MOLECULAR GENETICS

Rapid reversal of impaired inhibitory and excitatory transmission but not spine dysgenesis in a mouse model of mental retardation

(2011) Andrew D. Powell et al.   JOURNAL OF PHYSIOLOGY-LONDON

ARHGAP18, a GTPase-activating protein for RhoA, controls cell shape, spreading, and motility

(2011) Masao Maeda et al.   MOLECULAR BIOLOGY OF THE CELL

Local, persistent activation of Rho GTPases during plasticity of single dendritic spines

(2011) Hideji Murakoshi et al.   NATURE

α2-chimaerin controls neuronal migration and functioning of the cerebral cortex through CRMP-2

(2011) Jacque P K Ip et al.   NATURE NEUROSCIENCE

Modulation of RhoGTPases Improves the Behavioral Phenotype and Reverses Astrocytic Deficits in a Mouse Model of Rett Syndrome

(2011) Bianca De Filippis et al.   NEUROPSYCHOPHARMACOLOGY

Changes in hippocampal synapses and learning-memory abilities in a streptozotocin-treated rat model and intervention by using fasudil hydrochloride

(2011) Y. Hou et al.   NEUROSCIENCE

Control of synapse development and plasticity by Rho GTPase regulatory proteins

(2011) Kimberley F. Tolias et al.   PROGRESS IN NEUROBIOLOGY

Dissection of the Interplay between Class I PI3Ks and Rac Signaling in Phagocytic Functions

(2011) Carlotta Costa et al.   TheScientificWorldJOURNAL

Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of theFGD1gene

(2010) A. Orrico et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecules and Mechanisms Involved in the Generation and Migration of Cortical Interneurons

(2010) Luis R Hernández-Miranda et al.   ASN Neuro

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance

(2010) M Al-Owain et al.   CLINICAL GENETICS

The role of BDNF and its receptors in depression and antidepressant drug action: Reactivation of developmental plasticity

(2010) Eero Castrén et al.   Developmental Neurobiology

The role of Rho GTPase proteins in CNS neuronal migration

(2010) Eve-Ellen Govek et al.   Developmental Neurobiology

Generation of interneuron diversity in the mouse cerebral cortex

(2010) Diego M. Gelman et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient

(2010) R. Smigiel et al.   JOURNAL OF APPLIED GENETICS

Trio Is a Key Guanine Nucleotide Exchange Factor Coordinating Regulation of the Migration and Morphogenesis of Granule Cells in the Developing Cerebellum

(2010) Ya-Jing Peng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Evidence for the Involvement of Lfc and Tctex-1 in Axon Formation

(2010) C. Conde et al.   JOURNAL OF NEUROSCIENCE

CDKL5, a Protein Associated with Rett Syndrome, Regulates Neuronal Morphogenesis via Rac1 Signaling

(2010) Q. Chen et al.   JOURNAL OF NEUROSCIENCE

Olig1 and Olig2 triplication causes developmental brain defects in Down syndrome

(2010) Lina Chakrabarti et al.   NATURE NEUROSCIENCE

Identifying gene regulatory networks in schizophrenia

(2010) Steven G. Potkin et al.   NEUROIMAGE

Rho and Ras GTPases in Axon Growth, Guidance, and Branching

(2010) A. Hall et al.   Cold Spring Harbor Perspectives in Biology

Axon Growth and Guidance: Receptor Regulation and Signal Transduction

(2009) Michael O'Donnell et al.   Annual Review of Neuroscience

Peripheral delivery of a ROCK inhibitor improves learning and working memory.

(2009) Matthew J. Huentelman et al.   BEHAVIORAL NEUROSCIENCE

Role of Rac1 GTPase in JNK signaling and delayed neuronal cell death following global cerebral ischemia

(2009) Quan-Guang Zhang et al.   BRAIN RESEARCH

The Rho-Linked Mental Retardation Protein OPHN1 Controls Synaptic Vesicle Endocytosis via Endophilin A1

(2009) Akiko Nakano-Kobayashi et al.   CURRENT BIOLOGY

The Rho-linked mental retardation protein oligophrenin-1 controls synapse maturation and plasticity by stabilizing AMPA receptors

(2009) N. Nadif Kasri et al.   GENES & DEVELOPMENT

Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation

(2009) Malik Khelfaoui et al.   HUMAN MOLECULAR GENETICS

Integrins in cell migration - the actin connection

(2009) M. Vicente-Manzanares et al.   JOURNAL OF CELL SCIENCE

Rac1 inhibition negatively regulates transcriptional activity of the amyloid precursor protein gene

(2009) Pi-Lin Wang et al.   JOURNAL OF NEUROSCIENCE RESEARCH

A central role for the small GTPase Rac1 in hippocampal plasticity and spatial learning and memory

(2009) Ursula Haditsch et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Increased network excitability and impaired induction of long-term potentiation in the dentate gyrus of collybistin-deficient mice in vivo

(2009) Peter Jedlicka et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Kalirin loss results in cortical morphological alterations

(2009) Zhong Xie et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Lfc and Tctex-1 regulate the genesis of neurons from cortical precursor cells

(2009) Andrée Gauthier-Fisher et al.   NATURE NEUROSCIENCE

Mutations inSYNGAP1in Autosomal Nonsyndromic Mental Retardation

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

Kalirin regulates cortical spine morphogenesis and disease-related behavioral phenotypes

(2009) M. E. Cahill et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features

(2008) Imen Rejeb et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A balanced chromosomal translocation disruptingARHGEF9is associated with epilepsy, anxiety, aggression, and mental retardation

(2008) Vera M. Kalscheuer et al.   HUMAN MUTATION

Shootin1 interacts with actin retrograde flow and L1-CAM to promote axon outgrowth

(2008) Tadayuki Shimada et al.   JOURNAL OF CELL BIOLOGY

Gene discovery through imaging genetics: identification of two novel genes associated with schizophrenia

(2008) S G Potkin et al.   MOLECULAR PSYCHIATRY

Mammalian Rho GTPases: new insights into their functions from in vivo studies

(2008) Sarah J. Heasman et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Reversing Neurodevelopmental Disorders in Adults

(2008) Dan Ehninger et al.   NEURON