Lipid Binding Defects and Perturbed Synaptogenic Activity of a Collybistin R290H Mutant That Causes Epilepsy and Intellectual Disability

A conformational switch in collybistin determines the differentiation of inhibitory postsynapses

(2014) T. Soykan et al.   EMBO JOURNAL

GROMACS 4.5: a high-throughput and highly parallel open source molecular simulation toolkit

(2013) Sander Pronk et al.   BIOINFORMATICS

Molecular basis for prospective pharmacological treatment strategies in intellectual disability syndromes

(2013) Chiara Verpelli et al.   Developmental Neurobiology

Class III phosphatidylinositol 3-kinase and its catalytic product PtdIns3P in regulation of endocytic membrane traffic

(2013) Camilla Raiborg et al.   FEBS Journal

Collybistin activation by GTP-TC10 enhances postsynaptic gephyrin clustering and hippocampal GABAergic neurotransmission

(2013) S. Mayer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features

(2011) Gaetan Lesca et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Differential Regulation of the Postsynaptic Clustering of γ-Aminobutyric Acid Type A (GABAA) Receptors by Collybistin Isoforms

(2011) Tzu-Ting Chiou et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Collybistin splice variants differentially interact with gephyrin and Cdc42 to regulate gephyrin clustering at GABAergic synapses

(2011) S. K. Tyagarajan et al.   JOURNAL OF CELL SCIENCE

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

(2011) Keiko Shimojima et al.   JOURNAL OF HUMAN GENETICS

GABAA Receptor Trafficking-Mediated Plasticity of Inhibitory Synapses

(2011) Bernhard Luscher et al.   NEURON

The contribution of GABAergic dysfunction to neurodevelopmental disorders

(2011) Kartik Ramamoorthi et al.   TRENDS IN MOLECULAR MEDICINE

The Role of Collybistin in Gephyrin Clustering at Inhibitory Synapses: Facts and Open Questions

(2011) Theofilos Papadopoulos et al.   Frontiers in Cellular Neuroscience

The cell biology of synaptic inhibition in health and disease

(2010) Katharine R Smith et al.   CURRENT OPINION IN NEUROBIOLOGY

PH-Domain-driven targeting of collybistin but not Cdc42 activation is required for synaptic gephyrin clustering

(2010) Suneel Reddy-Alla et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Complex Role of Collybistin and Gephyrin in GABAAReceptor Clustering

(2010) Leila Saiepour et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neuroligin 2 Drives Postsynaptic Assembly at Perisomatic Inhibitory Synapses through Gephyrin and Collybistin

(2009) Alexandros Poulopoulos et al.   NEURON

Function and dysfunction of the PI system in membrane trafficking

(2008) Mariella Vicinanza et al.   EMBO JOURNAL

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

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

GROMACS 4:  Algorithms for Highly Efficient, Load-Balanced, and Scalable Molecular Simulation

(2008) Berk Hess et al.   Journal of Chemical Theory and Computation