Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses.
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Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndromeNeurobeachin is required postsynaptically for electrical and chemical synapse formationNeurobeachin, a regulator of synaptic protein targeting, is associated with body fat mass and feeding behavior in mice and body-mass index in humansSubgroup-specific alternative splicing in medulloblastomaThe biochemical anatomy of cortical inhibitory synapsesGray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice.Straightforward assay for quantification of social avoidance in Drosophila melanogasterTandem mass spectrometry identifies many mouse brain O-GlcNAcylated proteins including EGF domain-specific O-GlcNAc transferase targets.Synapse associated protein 102 (SAP102) binds the C-terminal part of the scaffolding protein neurobeachin.The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.The dwarf phenotype in GH240B mice, haploinsufficient for the autism candidate gene Neurobeachin, is caused by ectopic expression of recombinant human growth hormone.Short copy number variations potentially associated with tonic immobility responses in newly hatched chicks.Trafficking of kainate receptors.Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorderA-kinase anchoring proteins as potential drug targets.Neurobeachin regulates neurotransmitter receptor trafficking to synapses.Platelets of mice heterozygous for neurobeachin, a candidate gene for autism spectrum disorder, display protein changes related to aberrant protein kinase A activityLRBA is Essential for Allogeneic Responses in Bone Marrow TransplantationUsing C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders.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 patternsEndosomal system genetics and autism spectrum disorders: A literature review.The enlarged lysosomes in beige j cells result from decreased lysosome fission and not increased lysosome fusion.Neurobeachin Regulates Glutamate- and GABA-Receptor Targeting to Synapses via Distinct Pathways.The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.Candidate genes in ocular dominance plasticityThe BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein Golf to Olfactory Cilia.Dendritic spine formation and synaptic function require neurobeachin.Genetic ablation of VIAAT in glycinergic neurons causes a severe respiratory phenotype and perinatal death.The interplay between electrical and chemical synaptogenesisThe Possible Role of Neurobeachin in Extinction of Contextual Fear MemoryMolecular Dissection of Neurobeachin Function at Excitatory Synapses
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Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses.
description
2009 nî lūn-bûn
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2009年の論文
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2009年学术文章
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2009年学术文章
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name
Neurobeachin, a protein implic ...... nctioning of central synapses.
@en
Neurobeachin, a protein implic ...... nctioning of central synapses.
@nl
type
label
Neurobeachin, a protein implic ...... nctioning of central synapses.
@en
Neurobeachin, a protein implic ...... nctioning of central synapses.
@nl
prefLabel
Neurobeachin, a protein implic ...... nctioning of central synapses.
@en
Neurobeachin, a protein implic ...... nctioning of central synapses.
@nl
P2093
P2860
P1476
Neurobeachin, a protein implic ...... unctioning of central synapses
@en
P2093
Astrid Rohlmann
Johanna Andrae
Manfred W Kilimann
Markus Döring
Richard Fairless
Weiqi Zhang
P2860
P304
P356
10.1113/JPHYSIOL.2009.178236
P407
P577
2009-09-01T00:00:00Z