ArticlePloS one2016
Nuclear Localization of the Autism Candidate Gene Neurobeachin and Functional Interaction with the NOTCH1 Intracellular Domain Indicate a Role in Regulating Transcription.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 29 citations in OpenAlex.
- LRBA regulates actin cytoskeleton dynamics through NMIIA during B cell immune responses.EMBO reports · 2026Article
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- The Notch Signaling Pathway: A Potential Target for Mental Disorders.Molecular neurobiology · 2025Review
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- N-acetylcysteine improves autism-like behavior by recovering autophagic deficiency and decreasing Notch-1/Hes-1 pathway activity.Experimental biology and medicine (Maywood, N.J.) · 2023Article
- De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability.Human genomics · 2022Article
- Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA.Journal of human genetics · 2021Article
- Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.Diabetes research and clinical practice · 2021Article
- Identification of the Novel Methylated Genes' Signature to Predict Prognosis in INRG High-Risk Neuroblastomas.Journal of oncology · 2021Article
- Post-Developmental Roles of Notch Signaling in the Nervous System.Biomolecules · 2020Review
- Autism Spectrum Disorder-Related Syndromes: Modeling withInternational journal of molecular sciences · 2019Review
- High-density genotyping reveals signatures of selection related to acclimation and economically important traits in 15 local sheep breeds from Russia.BMC genomics · 2019Article
- LRBA in the endomembrane system.Colombia medica (Cali, Colombia) · 2018Review
- The Possible Role of Neurobeachin in Extinction of Contextual Fear Memory.Scientific reports · 2018Article
- Potential for therapeutic targeting of AKAP signaling complexes in nervous system disorders.Pharmacology & therapeutics · 2018Review
- Molecular Dissection of Neurobeachin Function at Excitatory Synapses.Frontiers in synaptic neuroscience · 2018Article
- In Search of Autism's Roots.PLoS biology · 2016Article
- Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA.Molecular genetics and metabolismArticle
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7 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundNeurobeachin (NBEA) is an autism spectrum disorders (ASD) candidate gene. NBEA deficiency affects regulated secretion, receptor trafficking, synaptic architecture and protein kinase A (PKA)-mediated phosphorylation. NBEA is a large multidomain scaffolding protein. From N- to C-terminus, NBEA has a concanavalin A-like lectin domain flanked by armadillo repeats (ACA), an A-kinase anchoring protein domain that can bind to PKA, a domain of unknown function (DUF1088) and a BEACH domain, preceded by a pleckstrin homology-like domain and followed by WD40 repeats (PBW). Although most of these domains mediate protein-protein interactions, no interaction screen has yet been performed.
methodsYeast two-hybrid screens with the ACA and PBW domain modules of NBEA gave a list of interaction partners, which were analyzed for Gene Ontology (GO) enrichment. Neuro-2a cells were used for confocal microscopy and nuclear extraction analysis. NOTCH-mediated transcription was studied with luciferase reporter assays and qRT-PCR, combined with NBEA knockdown or overexpression.
resultsBoth domain modules showed a GO enrichment for the nucleus. PBW almost exclusively interacted with transcription regulators, while ACA interacted with a number of PKA substrates. NBEA was partially localized in the nucleus of Neuro-2a cells, albeit much less than in the cytoplasm. A nuclear localization signal was found in the DUF1088 domain, which was shown to contribute to the nuclear localization of an EGFP-DPBW fusion protein. Yeast two-hybrid identified the Notch1 intracellular domain as a physical interactor of the PBW domain and a role for NBEA as a negative regulator in Notch-mediated transcription was demonstrated.
conclusionDefining novel interaction partners of conserved NBEA domain modules identified a role for NBEA as transcriptional regulator in the nucleus. The physical interaction of NBEA with NOTCH1 is most relevant for ASD pathogenesis because NOTCH signaling is essential for neural development.
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