Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

(2014) Claire C. Homan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

prickle modulates microtubule polarity and axonal transport to ameliorate seizures in flies

(2014) S. N. Ehaideb et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Cul-3-BTB ubiquitylation pathway regulates junctional levels and asymmetry of core planar polarity proteins

(2013) H. Strutt et al.   DEVELOPMENT

Mutations in Extracellular Matrix GenesNID1andLAMC1Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles

(2013) Benjamin W. Darbro et al.   HUMAN MUTATION

Role of Ubiquitin Ligases and the Proteasome in Oncogenesis: Novel Targets for Anticancer Therapies

(2013) Lindsey N. Micel et al.   JOURNAL OF CLINICAL ONCOLOGY

Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction

(2013) L P Sowers et al.   MOLECULAR PSYCHIATRY

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Loss of Usp9x Disrupts Cortical Architecture, Hippocampal Development and TGFβ-Mediated Axonogenesis

(2013) Shane Stegeman et al.   PLoS One

PRICKLE1 Interaction with SYNAPSIN I Reveals a Role in Autism Spectrum Disorders

(2013) Lily Paemka et al.   PLoS One

Deubiquitinase FAM/USP9X Interacts with the E3 Ubiquitin Ligase SMURF1 Protein and Protects It from Ligase Activity-dependent Self-degradation

(2012) Yang Xie et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification of Ubiquitin-specific Protease 9X (USP9X) as a Deubiquitinase Acting on Ubiquitin-Peroxin 5 (PEX5) Thioester Conjugate

(2012) Cláudia P. Grou et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans

(2011) Hirotaka Tao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mink1 Regulates  -Catenin-Independent Wnt Signaling via Prickle Phosphorylation

(2011) A. M. Daulat et al.   MOLECULAR AND CELLULAR BIOLOGY

Deubiquitinase Inhibition by Small-Molecule WP1130 Triggers Aggresome Formation and Tumor Cell Apoptosis

(2010) V. Kapuria et al.   CANCER RESEARCH

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Drosophila as a Model for Epilepsy: bss Is a Gain-of-Function Mutation in the Para Sodium Channel Gene That Leads to Seizures

(2010) L. Parker et al.   GENETICS

Regulation of Planar Cell Polarity by Smurf Ubiquitin Ligases

(2009) Masahiro Narimatsu et al.   CELL

USP9X Enhances the Polarity and Self-Renewal of Embryonic Stem Cell-derived Neural Progenitors

(2009) Lachlan A. Jolly et al.   MOLECULAR BIOLOGY OF THE CELL

Deubiquitinase USP9X stabilizes MCL1 and promotes tumour cell survival

(2009) Martin Schwickart et al.   NATURE

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

(2008) Alexander G. Bassuk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Huntingtin Regulates RE1-silencing Transcription Factor/Neuron-restrictive Silencer Factor (REST/NRSF) Nuclear Trafficking Indirectly through a Complex with REST/NRSF-interacting LIM Domain Protein (RILP) and Dynactin p150Glued

(2008) Masahito Shimojo   JOURNAL OF BIOLOGICAL CHEMISTRY