GoPubMed Proteins lists recent and important papers and reviews for
proteins. Page last changed on 19 Dec 2016.
Neurobeachin
NBEA, Neurobeachin, BCL8B, KIAA1544
This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011] (from
NCBI)
Sponsored links
Top mentioned proteins:
CAN, HAD, fibrillin-1, Rdl, E3 ubiquitin ligase
Papers on
NBEA
Extreme obesity is associated with variation in genes related to the circadian rhythm of food intake and hypothalamic signaling.
New
Maastricht, Netherlands. In Physiol Genomics, Jun 2015
Six novel rare deleterious missense variants were found in the genes for BAIAP3, NBEA, PRRC2A, RYR1, SIM1, and TRH, and a novel indel variant in LEPR.
Drosophila mutants of the autism candidate gene neurobeachin (rugose) exhibit neuro-developmental disorders, aberrant synaptic properties, altered locomotion, and impaired adult social behavior and activity patterns.
New
New York City, United States. In J Neurogenet, Jun 2015
Candidate gene studies have shown that the neurobeachin (NBEA) gene is disrupted in human patients with idiopathic autism ( Castermans et al., 2003 ).
Neurobeachin Regulates Glutamate- and GABA-Receptor Targeting to Synapses via Distinct Pathways.
New
Amsterdam, Netherlands. In Mol Neurobiol, Jun 2015
Neurobeachin (Nbea), a brain specific AKAP, is required for synaptic surface expression of both glutamate and GABA receptors.
Neurobeachin is required postsynaptically for electrical and chemical synapse formation.
New
Seattle, United States. In Curr Biol, Feb 2015
RESULTS: Here, using a forward genetic screen in zebrafish, we find that the autism-associated gene neurobeachin (nbea), which encodes a BEACH-domain-containing protein implicated in endomembrane trafficking, is required for both electrical and chemical synapse formation.
Prognostic significance of decreased expression of six large common fragile site genes in oropharyngeal squamous cell carcinomas.
Rochester, United States. In Transl Oncol, 2014
RNA sequencing previously revealed that there was a group of six large CFS genes which frequently had decreased expression in oropharyngeal squamous cell carcinomas (OPSCCs) and real-time reverse transcriptase polymerase chain reaction experiments validated that these six large CFS genes (PARK2, DLG2, NBEA, CTNNA3, DMD, and FHIT) had decreased expression in most of the tumor samples.
Platelet studies in autism spectrum disorder patients and first-degree relatives.
Leuven, Belgium. In Mol Autism, 2014
Altered platelet dense granule morphology was previously reported in three autism spectrum disorder (ASD) patients with chromosomal translocations that disrupted ASD candidate genes NBEA, SCAMP5, and AMYSIN, but a systematic analysis of platelet function in ASD is lacking in contrast to numerous reports of elevated serotonin levels in platelets and blood as potential biomarker for ASD.
Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder.
Bergen, Norway. In J Affect Disord, 2014
CONCLUSIONS: NBEA encodes neurobeachin, a scaffolding protein primarily expressed in the brain and involved in trafficking of vesicles containing neurotransmitter receptors.
A selected group of large common fragile site genes have decreased expression in oropharyngeal squamous cell carcinomas.
Rochester, United States. In Genes Chromosomes Cancer, 2014
These six genes are PARK2, DLG2, NBEA, CTNNA3, DMD, and FHIT.
The dwarf phenotype in GH240B mice, haploinsufficient for the autism candidate gene Neurobeachin, is caused by ectopic expression of recombinant human growth hormone.
Leuven, Belgium. In Plos One, 2013
Two knockout mouse models for the autism candidate gene Neurobeachin (Nbea) have been generated independently.
The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.
Review
Bethesda, United States. In Traffic, 2013
BDCP alterations affect lysosome size (LYST and NSMAF), apoptosis (NSMAF), autophagy (LYST, WDFY3, LRBA), granule size (LYST, NBEAL2, NBEA) or synapse formation (NBEA).
Pharmacogenomics in Alzheimer's disease: a genome-wide association study of response to cholinesterase inhibitors.
Milano, Italy. In Neurobiol Aging, 2013
Rs6720975 maps in the intronic region of PRKCE, a protein kinase involved in several cellular functions, whereas rs17798800 is intergenic and, according to expression quantitative trait locus (eQTL) analysis, it acts as a cis-regulator of NBEA, an A kinase-anchoring protein playing a substantial role in the maturation of the nervous system.
Neurobeachin regulates neurotransmitter receptor trafficking to synapses.
Göttingen, Germany. In J Cell Biol, 2013
We found that neurons lacking the BEACH (beige-Chediak/Higashi) domain protein Neurobeachin (Nbea) had strongly reduced synaptic responses caused by a reduction in surface levels of glutamate and GABA(A) receptors.
Platelets of mice heterozygous for neurobeachin, a candidate gene for autism spectrum disorder, display protein changes related to aberrant protein kinase A activity.
Leuven, Belgium. In Mol Autism, 2012
BACKGROUND: Neurobeachin (NBEA) has been identified as a candidate gene for autism spectrum disorders (ASD) in several unrelated patients with alterations in the NBEA gene.
Neurobeachin, a regulator of synaptic protein targeting, is associated with body fat mass and feeding behavior in mice and body-mass index in humans.
GeneRIF
Uppsala, Sweden. In Plos Genet, 2011
data obtained in mice and humans suggest that variation of Nbea abundance or activity critically affects body weight, presumably by influencing the activity of feeding-related neural circuits
The autism candidate gene Neurobeachin encodes a scaffolding protein implicated in membrane trafficking and signaling.
Review
Leuven, Belgium. In Curr Mol Med, 2011
Neurobeachin (NBEA) has recently been identified as a candidate gene for autism in a patient with a de novo chromosomal translocation and three patients with a monoallelic deletion.
Dendritic spine formation and synaptic function require neurobeachin.
GeneRIF
Münster, Germany. In Nat Commun, 2010
Data show that deletion of Nbea leads to reduced numbers of spinous synapses in cultured neurons from complete knockouts and in cortical tissue from heterozygous mice, accompanied by altered miniature postsynaptic currents.
Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses.
GeneRIF
Göttingen, Germany. In J Physiol, 2009
Our data demonstrate for the first time a function of Nbea at central synapses that may be based on its presumed role in targeting membrane proteins to synaptic contacts.
Neurobeachin (NBEA) is a target of recurrent interstitial deletions at 13q13 in patients with MGUS and multiple myeloma.
GeneRIF
Saint Louis, United States. In Exp Hematol, 2009
The NBEA gene at 13q13, and its expression are frequently disrupted in MM.
Non-random inactivation of large common fragile site genes in different cancers.
Review
Rochester, United States. In Cytogenet Genome Res, 2006
To determine if there was selection for the inactivation of different large CFS genes in different cancers, we examined the expression of 13 of the 20 known large CFS genes: FHIT, WWOX, PARK2, GRID2, NBEA, DLG2, RORA isoforms 1 and 4, DAB1, CNTNAP2, DMD, IL1RAPL1, IMMP2L and LARGE in breast, ovarian, endometrial and brain cancers using real-time RT-PCR analysis.
Neurobeachin is essential for neuromuscular synaptic transmission.
GeneRIF
Philadelphia, United States. In J Neurosci, 2004
Nbea-null mice suffered block of evoked synaptic transmission at neuromuscular junctions, whereas nerve conduction, synaptic structure and synaptic vesicle release were normal supporting a neurotransmitter release role of Nbea at neuromuscular junctions
