| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| S Hossein Fatemi, Elysabeth D Otte, Timothy D Folsom, Arthur C Eschenlauer, Randall J Roper, Justin W Aman, Paul D Thura. Early Chronic Fluoxetine Treatment of Ts65Dn Mice Rescues Synaptic Vesicular Deficits and Prevents Aberrant Proteomic Alterations. Genes. vol 15. issue 4. 2024-04-27. PMID:38674386. |
proteomic analysis of trisomic synaptic fractions revealed significant downregulation of proteins involved in synaptic vesicular traffic, including vesicular endocytosis (clta, cltb, cltc), synaptic assembly and maturation (exoc1, exoc3, exoc8), anterograde axonal transport (exoc1), neurotransmitter transport to psd (sacm1l), endosomal-lysosomal acidification (rogdi, dmxl2), and synaptic signaling (nrxn1, hip1, itsn1, ywhag). |
2024-04-27 |
2024-04-29 |
mouse |
| Bing Xu, Yugong Ho, Maria Fasolino, Joanna Medina, William Timothy O'Brien, Janine M Lamonica, Erin Nugent, Edward S Brodkin, Marc V Fuccillo, Maja Bucan, Zhaolan Zho. Allelic contribution of Nrxn1α to autism-relevant behavioral phenotypes in mice. PLoS genetics. vol 19. issue 2. 2023-02-27. PMID:36848371. |
copy number variations (cnvs) in the neurexin 1 (nrxn1) gene, which encodes a presynaptic protein involved in neurotransmitter release, are some of the most frequently observed single-gene variants associated with autism spectrum disorder (asd). |
2023-02-27 |
2023-08-14 |
mouse |
| Rebecca B Hughes, Jayde Whittingham-Dowd, Rachel E Simmons, Steven J Clapcote, Susan J Broughton, Neil Dawso. Ketamine Restores Thalamic-Prefrontal Cortex Functional Connectivity in a Mouse Model of Neurodevelopmental Disorder-Associated 2p16.3 Deletion. Cerebral cortex (New York, N.Y. : 1991). vol 30. issue 4. 2021-08-18. PMID:31812984. |
we have little understanding of how nrxn1 heterozygosity increases the risk of developing these disorders, particularly in terms of the impact on brain and neurotransmitter system function and brain network connectivity. |
2021-08-18 |
2023-08-13 |
mouse |
| Akitoyo Hishimoto, Olga Pletnikova, Doyle Lu Lang, Juan C Troncoso, Josephine M Egan, Qing-Rong Li. Neurexin 3 transmembrane and soluble isoform expression and splicing haplotype are associated with neuron inflammasome and Alzheimer's disease. Alzheimer's research & therapy. vol 11. issue 1. 2020-05-08. PMID:30902061. |
neurexins, nrxn1, nrxn2, and nrxn3, are presynaptic adhesion molecules that specify neuron synapses and regulate neurotransmitter release. |
2020-05-08 |
2023-08-13 |
Not clear |
| Steven E Hyma. Enlisting hESCs to Interrogate Genetic Variants Associated with Neuropsychiatric Disorders. Cell stem cell. vol 17. issue 3. 2016-06-07. PMID:26340523. |
(2015) combine gene targeting and stem cell technologies to identify a significant cellular effect of rare penetrant nrxn1 mutations in human neurons, which was found to cause a defect in neurotransmitter release. |
2016-06-07 |
2023-08-13 |
human |
| ChangHui Pak, Tamas Danko, Yingsha Zhang, Jason Aoto, Garret Anderson, Stephan Maxeiner, Fei Yi, Marius Wernig, Thomas C Südho. Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1. Cell stem cell. vol 17. issue 3. 2016-06-06. PMID:26279266. |
both heterozygous nrxn1 mutations selectively impaired neurotransmitter release in human neurons without changing neuronal differentiation or synapse formation. |
2016-06-06 |
2023-08-13 |
human |