P. Billuart

发表

Regulating Axon Branch Stability The Role of p190 RhoGAP in Repressing a Retraction Signaling Pathway

L. Luo, P. Billuart, C. Winter, 2001, Cell.

A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

Y. Berwald‐Netter, P. Billuart, A. Koulakoff, 1998, Cell.

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

H. R. Crollius, P. Billuart, J. Fryns, 1998, Nature.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

A Point Mutation in the RNA Recognition Motif of CSTF2 Associated with Intellectual Disability in Humans Causes Defects in 3′ End Processing

P. Billuart, V. Kalscheuer, T. Bienvenu, 2020, bioRxiv.

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

E. Bertini, A. Durr, P. Billuart, 2005, Neurology.

RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann–Steiner Syndrome

A. Afenjar, P. Billuart, N. Lebrun, 2018, NeuroMolecular Medicine.

The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity

P. Billuart, C. Verpelli, C. Sala, 2017, The Journal of Neuroscience.

Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation.

P. Billuart, J. Chelly, C. Moraine, 1998, Pathologie-biologie.

Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant

P. Billuart, N. Lebrun, T. Bienvenu, 2017, Clinical genetics.

Oligophrenin-1 Connects Exocytotic Fusion to Compensatory Endocytosis in Neuroendocrine Cells

P. Billuart, Y. Bailly, N. Vitale, 2015, The Journal of Neuroscience.

[A role for astrocytes in intellectual disabilities?]

N. Rouach, P. Billuart, N. Cresto, 2020, Medecine sciences : M/S.

Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation.

P. Billuart, J. Chelly, C. Moraine, 2000, Annales de genetique.

GTPase-activating protein oligophrenin 1 is a new partner of multifunctional adapter protein intersectin 1

P. Billuart, S. Gasman, S. Houy, 2012 .

Hippocampal Excitatory Synaptic Transmission and Plasticity Are Differentially Altered during Postnatal Development by Loss of the X-Linked Intellectual Disability Protein Oligophrenin-1

N. Rouach, P. Billuart, N. Lebrun, 2022, Cells.

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

M. Giustetto, Y. Hérault, Y. Humeau, 2016, Human molecular genetics.

Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

E. Bertini, P. Billuart, G. Neri, 2011, Human mutation.

Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2308/y Mouse Model

P. Billuart, J. Nectoux, T. Bienvenu, 2015, Journal of Molecular Neuroscience.

Early‐onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A

P. Billuart, N. Lebrun, P. Jeannet, 2015, American journal of medical genetics. Part A.

A gene for dominant nonspecific X-linked mental retardation is located in Xq28.

P. Billuart, G. Ponsot, J. Chelly, 1997, American journal of human genetics.

Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation.

P. Billuart, J. Chelly, A. Kahn, 1996, Human molecular genetics.

OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.

R. Salomon, P. Billuart, J. Rendu, 2015, Human molecular genetics.

Neuronal JNK pathway activation by IL-1 is mediated through IL1RAPL1, a protein required for development of cognitive functions

M. Giustetto, Marta Pallotto, P. Billuart, 2010, Communicative & integrative biology.

Supplementary information Ptchd 1 deficiency induces exciatory synaptic and cognitive dysfunctions in mouse

J. Vincent, Y. Hérault, H. Meziane, 2017 .

Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models

Y. Hérault, T. Sorg, H. Meziane, 2022, Biomedicines.

ROCK/PKA Inhibition Rescues Hippocampal Hyperexcitability and GABAergic Neuron Alterations in a Oligophrenin-1 Knock-Out Mouse Model of X-Linked Intellectual Disability

M. Caleo, P. Billuart, L. Restani, 2020, The Journal of Neuroscience.

A mosaic genetic screen for genes necessary for Drosophila mushroom body neuronal morphogenesis

Ethan K. Scott, L. Luo, E. Scott, 2003, Development.

Somatic mutations of the beta-catenin gene are frequent in mouse and human hepatocellular carcinomas.

M. Buendia, P. Billuart, J. Chelly, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Doublecortin Interacts with μ Subunits of Clathrin Adaptor Complexes in the Developing Nervous System

S. Mcconnell, B. Schaar, P. Billuart, 2001, Molecular and Cellular Neuroscience.

Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous system.

S. Mcconnell, B. Schaar, P. Billuart, 2001, Molecular and cellular neurosciences.

Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences.

P. Billuart, D. Lacombe, N. Lebrun, 2018, Gene.

Mapping of the X-Breakpoint Involved in a Balanced X;12 Translocation in a Female with Mild Mental Retardation

P. Billuart, D. Cohen, J. Chelly, 1997, European journal of human genetics : EJHG.

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.

J. Gécz, Y. Humeau, P. Billuart, 2015, Human molecular genetics.

CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy

P. Billuart, T. Bienvenu, M. Rio, 2017, Human mutation.

Emerging major synaptic signaling pathways involved in intellectual disability

P. Billuart, J. Chelly, A. Pavlowsky, 2012, Molecular Psychiatry.

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

A. Meindl, H. Ropers, R. Sudbrak, 2000, Nature Genetics.

Somatic mutations of the b -catenin gene are frequent in mouse and human hepatocellular carcinomas

P. Billuart, J. Chelly, A. Kahn, 1998 .

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

J. Vincent, Y. Hérault, H. Meziane, 2017, Molecular Psychiatry.

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome

A. Afenjar, P. Billuart, A. Briand-Suleau, 2017, European Journal of Human Genetics.

Autophosphorylation-independent and -dependent Functions of Focal Adhesion Kinase during Development*

J. Girault, P. Billuart, J. Corsi, 2009, The Journal of Biological Chemistry.

Oligophrenin1 protects mice against myocardial ischemia and reperfusion injury by modulating inflammation and myocardial apoptosis.

P. Billuart, M. Elvers, M. Klier, 2016, Cellular signalling.

Loss of oligophrenin1 leads to uncontrolled Rho activation and increased thrombus formation in mice

P. Billuart, P. Münzer, O. Borst, 2015, Journal of thrombosis and haemostasis : JTH.

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

P. Billuart, J. Fryns, H. van Bokhoven, 1998, Human molecular genetics.

A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3′ end processing is associated with intellectual disability in humans

P. Billuart, V. Kalscheuer, T. Bienvenu, 2020, Nucleic acids research.

A Postsynaptic Signaling Pathway that May Account for the Cognitive Defect Due to IL1RAPL1 Mutation

M. Giustetto, Y. Humeau, M. Passafaro, 2010, Current Biology.

Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2308/y Mouse Model

P. Billuart, J. Nectoux, T. Bienvenu, 2015, Journal of Molecular Neuroscience.

Astrocytes close the mouse critical period for visual plasticity

Jérôme Ribot, G. Dallérac, N. Rouach, 2021, Science.

Loss of X-Linked Mental Retardation Gene Oligophrenin1 in Mice Impairs Spatial Memory and Leads to Ventricular Enlargement and Dendritic Spine Immaturity

G. Ramakers, M. Nosten-Bertrand, B. Giros, 2007, The Journal of Neuroscience.

IL1RAPL1 controls inhibitory networks during cerebellar development in mice

Y. Humeau, P. Billuart, N. Vitale, 2009, The European journal of neuroscience.

Loss of Function of KCNC1 is associated with intellectual disability without seizures

P. Billuart, T. Bienvenu, G. Viot, 2017, European Journal of Human Genetics.

Do Astrocytes Play a Role in Intellectual Disabilities?

N. Rouach, P. Billuart, N. Cresto, 2019, Trends in Neurosciences.

Protein Kinase A Deregulation in the Medial Prefrontal Cortex Impairs Working Memory in Murine Oligophrenin-1 Deficiency

Y. Humeau, E. Normand, P. Billuart, 2017, The Journal of Neuroscience.

Target-Specific Vulnerability of Excitatory Synapses Leads to Deficits in Associative Memory in a Model of Intellectual Disorder

Y. Humeau, E. Normand, F. Levet, 2013, The Journal of Neuroscience.

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.

D. Smadja, P. Billuart, O. Dulac, 1997, Journal of medical genetics.

Identification of intellectual disability genes showing circadian clock-dependent expression in the mouse hippocampus

P. Billuart, O. Khwaja, F. Letourneur, 2015, Neuroscience.

A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα

M. Passafaro, P. Billuart, J. Chelly, 2011, Nature Neuroscience.

The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain

P. Billuart, M. Ahmadian, A. Koulakoff, 2003, Molecular and Cellular Neuroscience.

Construction of a highly annotated cosmid contig spanning 550Kb within the X-linked nonspecific mental retardation candidate region at Xp21.3-22.1.

J. Weissenbach, T. Bruls, P. Marynen, 1999, American journal of medical genetics.

IL-38 Ameliorates Skin Inflammation and Limits IL-17 Production from γδ T Cells.

B. Brüne, P. Billuart, T. Schmid, 2019, Cell reports.

Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24.

P. Billuart, G. Ponsot, J. Chelly, 1997, American journal of medical genetics.

Astrocytes close the critical period for visual plasticity

Jérôme Ribot, G. Dallérac, N. Rouach, 2020, bioRxiv.

The intellectual disability protein Oligophrenin‐1 controls astrocyte morphology and migration

J. Livet, N. Rouach, P. Billuart, 2020, Glia.

Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes.

Y. Hérault, M. Dahan, H. Meziane, 2016, Human molecular genetics.

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

P. Saintot, P. Billuart, J. Chelly, 2012, The Journal of physiology.

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell‐Derived Neurons With Oligophrenin‐1 Loss of Function

E. Bertini, C. Compagnucci, P. Billuart, 2016, Stem cells translational medicine.

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

M. Passafaro, P. Billuart, J. Chelly, 2009, Human molecular genetics.

Activation of the PI3K/AKT/mTOR Pathway in Cajal–Retzius Cells Leads to Their Survival and Increases Susceptibility to Kainate-Induced Seizures

A. Pierani, S. Moriceau, N. Rouach, 2023, International journal of molecular sciences.

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

M. Caleo, P. Billuart, C. Spalletti, 2017, Neurobiology of Disease.

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

Y. Humeau, A. Lüthi, P. Billuart, 2014, Philosophical Transactions of the Royal Society B: Biological Sciences.

Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulb.

M. Passafaro, I. Zamparo, A. Gritti, 2016, Human molecular genetics.

Major synaptic signaling pathways involved in intellectual disability

P. Billuart, J. Chelly, A. Pavlowsky, 2012, Molecular Psychiatry.

Astrocyte Transcriptome from the Mecp2308-Truncated Mouse Model of Rett Syndrome

P. Billuart, V. Baud, J. Chelly, 2015, NeuroMolecular Medicine.

RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann–Steiner Syndrome

A. Afenjar, P. Billuart, N. Lebrun, 2018, NeuroMolecular Medicine.

From Fragile X Mental Retardation Protein to Rac1 GTPase New Insights from Fly CYFIP

P. Billuart, J. Chelly, 2003, Neuron.

Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization

P. Billuart, C. Bagni, F. Bradke, 2023, Biological Psychiatry.

Autophosphorylation-independent and -dependent Functions of Focal Adhesion Kinase during Development*

J. Girault, P. Billuart, J. Corsi, 2009, The Journal of Biological Chemistry.

X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter.

E. Bertini, P. Billuart, J. Chelly, 1996, American journal of medical genetics.