ArticleThe Journal of physiology2009
Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses.
Article in The Journal of physiology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.
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52 citing papers in PubMed, 1 synthesis or guideline pooled it, 82 citations in OpenAlex.
- Endosomal system genetics and autism spectrum disorders: A literature review.Neuroscience and biobehavioral reviews · 2016Pooled it
- Article
- Proteomic Insights into Heroin Use: Links to Neurodegeneration.Molecular neurobiology · 2026Article
- Neurobeachin regulates receptor downscaling at GABAergic inhibitory synapses in a protein kinase A-dependent manner.Communications biology · 2024Article
- BEACH domain proteins function as cargo-sorting adaptors in secretory and endocytic pathways.The Journal of cell biology · 2024Article
- Neurobeachin regulates hematopoietic progenitor differentiation and survival by modulating Notch activity.Blood advances · 2024Article
- THUMPD3 regulates alternative splicing of ECM transcripts in human lung cancer cells and promotes proliferation and migration.PloS one · 2024Article
- Genetic alterations in the neuronal development genes are associated with changes of the tumor immune microenvironment in pancreatic cancer.Annals of pancreatic cancer · 2023Article
- Recent progress in type 1 classical dendritic cell cross-presentation - cytosolic, vacuolar, or both?Current opinion in immunology · 2023Review
- Neurobeachin controls the asymmetric subcellular distribution of electrical synapse proteins.Current biology : CB · 2023Article
- Critical periods and Autism Spectrum Disorders, a role for sleep.Neurobiology of sleep and circadian rhythms · 2023Article
- The evolving biology of cross-presentation.Seminars in immunology · 2023Review
- NMJ-related diseases beyond the congenital myasthenic syndromes.Frontiers in cell and developmental biology · 2023Review
- Neurobeachin, a promising target for use in the treatment of alcohol use disorder.Addiction biology · 2022Article
- Prazosin use in a patient with rare Neurobeachin gene deletion shows improvement in paranoid behavior: a case report.Journal of medical case reports · 2021Article
- 13q Deletion Syndrome InvolvingGenes · 2021Article
- Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA.Journal of human genetics · 2021Article
- Enhanced LTP of population spikes in the dentate gyrus of mice haploinsufficient for neurobeachin.Scientific reports · 2020Article
- Understanding the Molecular and Cell Biological Mechanisms of Electrical Synapse Formation.Frontiers in neuroanatomy · 2020Article
- A Genome-Wide Analysis of the Penumbral Volume in Inbred Mice following Middle Cerebral Artery Occlusion.Scientific reports · 2019Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The development of neuronal networks in the brain requires the differentiation of functional synapses. Neurobeachin (Nbea) was identified as a putative regulator of membrane protein trafficking associated with tubulovesicular endomembranes and postsynaptic plasma membranes. Nbea is essential for evoked transmission at neuromuscular junctions, but its role in the central nervous system has not been characterized. Here, we have studied central synapses of a newly generated gene-trap knockout (KO) mouse line at embryonic day 18, because null-mutant mice are paralysed and die perinatally. Although the overall brain architecture was normal, we identified major abnormalities of synaptic function in mutant animals. In acute slices from the brainstem, both spontaneous excitatory and inhibitory postsynaptic currents were clearly reduced and failure rates of evoked inhibitory responses were markedly increased. In addition, the frequency of miniature excitatory and both the frequency and amplitudes of miniature inhibitory postsynaptic currents were severely diminished in KO mice, indicating a perturbation of both action potential-dependent and -independent transmitter release. Moreover, Nbea appears to be important for the formation and composition of central synapses because the area density of mature asymmetric contacts in the fetal brainstem was reduced to 30% of wild-type levels, and the expression levels of a subset of synaptic marker proteins were smaller than in littermate controls. 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, and are consistent with the 'excitatory-inhibitory imbalance' model of autism where Nbea gene rearrangements have been detected in some patients.
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