Neurobeachin regulates neurotransmitter receptor trafficking to synapses

Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity

(2012) Gabriela Lopez-Herrera et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of neurotransmitter release mechanisms by photolysis of caged Ca2+ in an autaptic neuron culture system

(2012) Andrea Burgalossi et al.   Nature Protocols

Synapse Associated Protein 102 (SAP102) Binds the C-Terminal Part of the Scaffolding Protein Neurobeachin

(2012) Juliane Lauks et al.   PLoS One

Neurobeachin, a Regulator of Synaptic Protein Targeting, Is Associated with Body Fat Mass and Feeding Behavior in Mice and Body-Mass Index in Humans

(2012) Pawel K. Olszewski et al.   PLoS Genetics

The trafficking proteins Vacuolar Protein Sorting 35 and Neurobeachin interact with the glycine receptor β-subunit

(2011) Isabel del Pino et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

(2011) Walter HA Kahr et al.   NATURE GENETICS

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

(2011) Cornelis A Albers et al.   NATURE GENETICS

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

(2011) Meral Gunay-Aygun et al.   NATURE GENETICS

Dendritic spine formation and synaptic function require neurobeachin

(2011) Katharina Niesmann et al.   Nature Communications

Automated analysis of neuronal morphology, synapse number and synaptic recruitment

(2010) Sabine K. Schmitz et al.   JOURNAL OF NEUROSCIENCE METHODS

CKAMP44: A Brain-Specific Protein Attenuating Short-Term Synaptic Plasticity in the Dentate Gyrus

(2010) J. von Engelhardt et al.   SCIENCE

Neurobeachin (NBEA) is a target of recurrent interstitial deletions at 13q13 in patients with MGUS and multiple myeloma

(2009) Julie O'Neal et al.   EXPERIMENTAL HEMATOLOGY

Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses

(2009) Lucian Medrihan et al.   JOURNAL OF PHYSIOLOGY-LONDON

Functional Proteomics Identify Cornichon Proteins as Auxiliary Subunits of AMPA Receptors

(2009) J. Schwenk et al.   SCIENCE

GABAA receptor trafficking and its role in the dynamic modulation of neuronal inhibition

(2008) Tija C. Jacob et al.   NATURE REVIEWS NEUROSCIENCE

Glutamate Receptor Dynamics in Dendritic Microdomains

(2008) Thomas M. Newpher et al.   NEURON

Gephyrin: where do we stand, where do we go?

(2008) Jean-Marc Fritschy et al.   TRENDS IN NEUROSCIENCES