The Noonan Syndrome-linked Raf1L613V mutation drives increased glial number in the mouse cortex and enhanced learning

Mek1 Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome

(2018) Rifdat Aoidi et al.   Disease Models & Mechanisms

Human stem cell modeling in neurofibromatosis type 1 (NF1)

(2018) Michelle L. Wegscheid et al.   EXPERIMENTAL NEUROLOGY

Oligodendrocyte RasG12V expressed in its endogenous locus disrupts myelin structure through increased MAPK, nitric oxide, and notch signaling

(2017) Haley E. Titus et al.   GLIA

Reactive Astrocytes: Production, Function, and Therapeutic Potential

(2017) Shane A. Liddelow et al.   IMMUNITY

Divergent effects of intrinsically active MEK variants on developmental Ras signaling

(2017) Yogesh Goyal et al.   NATURE GENETICS

In vivo severity ranking of Ras pathway mutations associated with developmental disorders

(2017) Granton A. Jindal et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models

(2017) Jadwiga Schreiber et al.   Scientific Reports

Oligodendrocyte Nf1 Controls Aberrant Notch Activation and Regulates Myelin Structure and Behavior

(2017) Alejandro López-Juárez et al.   Cell Reports

Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders

(2017) Ileena Mitra et al.   PLoS Genetics

White matter microstructure of patients with neurofibromatosis type 1 and its relation to inhibitory control

(2016) M. Koini et al.   Brain Imaging and Behavior

Pathogenetics of the RASopathies

(2016) William E. Tidyman et al.   HUMAN MOLECULAR GENETICS

Human iPS Cell-Derived Neurons Uncover the Impact of Increased Ras Signaling in Costello Syndrome

(2016) G. E. Rooney et al.   JOURNAL OF NEUROSCIENCE

Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1

(2016) Jonathan M. Payne et al.   NEUROLOGY

Layer specific and general requirements for ERK/MAPK signaling in the developing neocortex

(2016) Lei Xing et al.   eLife

Neural stem cells secrete factors facilitating brain regeneration upon constitutive Raf-Erk activation

(2016) Yong-Hee Rhee et al.   Scientific Reports

Tumor necrosis factor alpha and its receptors in behaviour and neurobiology of adult mice, in the absence of an immune challenge

(2015) Marie Lou Camara et al.   BEHAVIOURAL BRAIN RESEARCH

RASopathies: unraveling mechanisms with animal models

(2015) G. A. Jindal et al.   Disease Models & Mechanisms

The 16p11.2 Deletion Mouse Model of Autism Exhibits Altered Cortical Progenitor Proliferation and Brain Cytoarchitecture Linked to the ERK MAPK Pathway

(2015) J. Pucilowska et al.   JOURNAL OF NEUROSCIENCE

Dysregulation of astrocyte extracellular signaling in Costello syndrome

(2015) Robert Krencik et al.   Science Translational Medicine

Ets Factors Regulate Neural Stem Cell Depletion and Gliogenesis in Ras Pathway Glioma

(2015) Joshua J. Breunig et al.   Cell Reports

Functional Redundancy of ERK1 and ERK2 MAP Kinases during Development

(2015) Christophe Frémin et al.   Cell Reports

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

(2014) Isabel Filges et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

NF1 regulation of RAS/ERK signaling is required for appropriate granule neuron progenitor expansion and migration in cerebellar development

(2014) Efrain Sanchez-Ortiz et al.   GENES & DEVELOPMENT

Neuronal NF1/RAS regulation of cyclic AMP requires atypical PKC activation

(2014) Corina Anastasaki et al.   HUMAN MOLECULAR GENETICS

RAS/ERK Signaling Controls Proneural Genetic Programs in Cortical Development and Gliomagenesis

(2014) S. Li et al.   JOURNAL OF NEUROSCIENCE

The Protein Tyrosine Phosphatase Shp2 Is Required for the Generation of Oligodendrocyte Progenitor Cells and Myelination in the Mouse Telencephalon

(2014) L. A. Ehrman et al.   JOURNAL OF NEUROSCIENCE

Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model

(2014) I. Filonova et al.   LEARNING & MEMORY

Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome

(2014) Yong-Seok Lee et al.   NATURE NEUROSCIENCE

Akt- or MEK-mediated mTOR inhibition suppresses Nf1 optic glioma growth

(2014) Aparna Kaul et al.   NEURO-ONCOLOGY

Next-generation sequencing identifies rare variants associated with Noonan syndrome

(2014) P.-C. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neuronal Activity Promotes Oligodendrogenesis and Adaptive Myelination in the Mammalian Brain

(2014) E. M. Gibson et al.   SCIENCE

Motor skill learning requires active central myelination

(2014) I. A. McKenzie et al.   SCIENCE

How Do Astrocytes Participate in Neural Plasticity?

(2014) Philip G. Haydon et al.   Cold Spring Harbor Perspectives in Biology

Learning and memory in children with Noonan syndrome

(2013) Elizabeth I. Pierpont et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The RASopathies

(2013) Katherine A. Rauen   Annual Review of Genomics and Human Genetics

Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1

(2013) Florian Mainberger et al.   BMC Neurology

Forebrain Engraftment by Human Glial Progenitor Cells Enhances Synaptic Plasticity and Learning in Adult Mice

(2013) Xiaoning Han et al.   Cell Stem Cell

Autism traits in the RASopathies

(2013) Brigid Adviento et al.   JOURNAL OF MEDICAL GENETICS

Sustained Activation of ERK1/2 MAPK in Oligodendrocytes and Schwann Cells Enhances Myelin Growth and Stimulates Oligodendrocyte Progenitor Expansion

(2013) A. Ishii et al.   JOURNAL OF NEUROSCIENCE

Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial

(2013) Thijs van der Vaart et al.   LANCET NEUROLOGY

TNF-α and its receptors modulate complex behaviours and neurotrophins in transgenic mice

(2013) Marie Lou Camara et al.   PSYCHONEUROENDOCRINOLOGY

Nf1 Loss and Ras Hyperactivation in Oligodendrocytes Induce NOS-Driven Defects in Myelin and Vasculature

(2013) Debra A. Mayes et al.   Cell Reports

ERK Inhibition Rescues Defects in Fate Specification of Nf1-Deficient Neural Progenitors and Brain Abnormalities

(2012) Yuan Wang et al.   CELL

SHP-2 acts via ROCK to regulate the cardiac actin cytoskeleton

(2012) Y. Langdon et al.   DEVELOPMENT

Regulated temporal-spatial astrocyte precursor cell proliferation involves BRAF signalling in mammalian spinal cord

(2012) A.-C. Tien et al.   DEVELOPMENT

The intermediate-activity L597VBRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway

(2012) C. Andreadi et al.   GENES & DEVELOPMENT

Astrocytes and disease: a neurodevelopmental perspective

(2012) A. V. Molofsky et al.   GENES & DEVELOPMENT

Neurofibromin Modulates Adult Hippocampal Neurogenesis and Behavioral Effects of Antidepressants

(2012) Y. Li et al.   JOURNAL OF NEUROSCIENCE

Disrupted ERK Signaling during Cortical Development Leads to Abnormal Progenitor Proliferation, Neuronal and Network Excitability and Behavior, Modeling Human Neuro-Cardio-Facial-Cutaneous and Related Syndromes

(2012) J. Pucilowska et al.   JOURNAL OF NEUROSCIENCE

Increased BRAF Heterodimerization Is the Common Pathogenic Mechanism for Noonan Syndrome-Associated RAF1 Mutants

(2012) X. Wu et al.   MOLECULAR AND CELLULAR BIOLOGY

MEK Is a Key Regulator of Gliogenesis in the Developing Brain

(2012) Xiaoyan Li et al.   NEURON

Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice

(2012) Aubin Michalon et al.   NEURON

MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1L613V mutation

(2011) Xue Wu et al.   JOURNAL OF CLINICAL INVESTIGATION

Neurofibromatosis-1 heterozygosity impairs CNS neuronal morphology in a cAMP/PKA/ROCK-dependent manner

(2011) Jacquelyn A. Brown et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Specific Functions for ERK/MAPK Signaling during PNS Development

(2011) Jason M. Newbern et al.   NEURON

Lovastatin as Treatment for Neurocognitive Deficits in Neurofibromatosis Type 1: Phase I Study

(2011) Maria T. Acosta et al.   PEDIATRIC NEUROLOGY

Kinase-Dead BRAF and Oncogenic RAS Cooperate to Drive Tumor Progression through CRAF

(2010) Sonja J. Heidorn et al.   CELL

The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc

(2010) Paul L. Greer et al.   CELL

Molecular and clinical analysis ofRAF1in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

(2010) Tomoko Kobayashi et al.   HUMAN MUTATION

Enhanced human brain associative plasticity in Costello syndrome

(2010) M. Dileone et al.   JOURNAL OF PHYSIOLOGY-LONDON

RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF

(2010) Poulikos I. Poulikakos et al.   NATURE

RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth

(2010) Georgia Hatzivassiliou et al.   NATURE

Behavioural phenotyping assays for mouse models of autism

(2010) Jill L. Silverman et al.   NATURE REVIEWS NEUROSCIENCE

An Embedded Subnetwork of Highly Active Neurons in the Neocortex

(2010) Lina Yassin et al.   NEURON

The Language Phenotype of Children and Adolescents With Noonan Syndrome

(2010) Elizabeth I. Pierpont et al.   JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade

(2009) Laura Cesarini et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Costello syndrome H-Ras alleles regulate cortical development

(2009) Annie Paquin et al.   DEVELOPMENTAL BIOLOGY

Dysregulation of the Wnt pathway inhibits timely myelination and remyelination in the mammalian CNS

(2009) S. P.J. Fancy et al.   GENES & DEVELOPMENT

Ube3a is required for experience-dependent maturation of the neocortex

(2009) Koji Yashiro et al.   NATURE NEUROSCIENCE

Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations

(2009) T. Nakamura et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Elevated Plus Maze for Mice

(2009) Munekazu Komada et al.   Jove-Journal of Visualized Experiments

Neurofibromin Regulation of ERK Signaling Modulates GABA Release and Learning

(2008) Yijun Cui et al.   CELL

Genotype differences in cognitive functioning in Noonan syndrome

(2008) E. I. Pierpont et al.   GENES BRAIN AND BEHAVIOR

Simultaneous inactivation of Erk1 and Erk2 leads to perturbations in the control of the cell cycle during neurogenesis

(2008) J. Pucilowska et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Effect of Simvastatin on Cognitive Functioning in Children With Neurofibromatosis Type 1

(2008) Lianne C. Krab   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Deletion of ERK2 Mitogen-Activated Protein Kinase Identifies Its Key Roles in Cortical Neurogenesis and Cognitive Function

(2008) I. S. Samuels et al.   JOURNAL OF NEUROSCIENCE

Neurofibromin Is Required for Barrel Formation in the Mouse Somatosensory Cortex

(2008) M. E. Lush et al.   JOURNAL OF NEUROSCIENCE

A Transcriptome Database for Astrocytes, Neurons, and Oligodendrocytes: A New Resource for Understanding Brain Development and Function

(2008) J. D. Cahoy et al.   JOURNAL OF NEUROSCIENCE

Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development

(2008) J. Newbern et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA