Late stage melanoma is hallmarked by low NLGN4X expression leading to HIF1A accumulation. | Late stage melanoma is hallmarked by low NLGN4X expression leading to HIF1A accumulation. Schörghofer D, Vock L, Mirea MA, Eckel O, Gschwendtner A, Neesen J, Richtig E, Hengstschläger M, Mikula M., Free PMC Article | 09/12/2024 |
The distribution of neuroligin4, an autism-related postsynaptic molecule, in the human brain. | The distribution of neuroligin4, an autism-related postsynaptic molecule, in the human brain. Toya A, Fukada M, Aoki E, Matsuki T, Ueda M, Eda S, Hashizume Y, Iio A, Masaki S, Nakayama A., Free PMC Article | 03/1/2023 |
RNA sequencing and functional studies of patient-derived cells reveal that neurexin-1 and regulators of this pathway are associated with poor outcomes in Ewing sarcoma. | RNA sequencing and functional studies of patient-derived cells reveal that neurexin-1 and regulators of this pathway are associated with poor outcomes in Ewing sarcoma. Roundhill EA, Chicon-Bosch M, Jeys L, Parry M, Rankin KS, Droop A, Burchill SA., Free PMC Article | 02/12/2022 |
Autism-associated variants of neuroligin 4X impair synaptogenic activity by various molecular mechanisms. | Autism-associated variants of neuroligin 4X impair synaptogenic activity by various molecular mechanisms. Yumoto T, Kimura M, Nagatomo R, Sato T, Utsunomiya S, Aoki N, Kitaura M, Takahashi K, Takemoto H, Watanabe H, Okano H, Yoshida F, Nao Y, Tomita T., Free PMC Article | 08/7/2021 |
Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization. | Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization. Kopp N, Amarillo I, Martinez-Agosto J, Quintero-Rivera F. | 07/24/2021 |
An Autism-Associated Mutation Impairs Neuroligin-4 Glycosylation and Enhances Excitatory Synaptic Transmission in Human Neurons. | An Autism-Associated Mutation Impairs Neuroligin-4 Glycosylation and Enhances Excitatory Synaptic Transmission in Human Neurons. Cast TP, Boesch DJ, Smyth K, Shaw AE, Ghebrial M, Chanda S., Free PMC Article | 04/3/2021 |
A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y. | A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y. Nguyen TA, Wu K, Pandey S, Lehr AW, Li Y, Bemben MA, Badger JD 2nd, Lauzon JL, Wang T, Zaghloul KA, Thurm A, Jain M, Lu W, Roche KW., Free PMC Article | 09/12/2020 |
Neuroligin-4 is primarily expressed in cerebral cortex and localized to excitatory synapses. Overexpression of NLGN4 in human embryonic stem cell-derived neurons resulted in an increase in excitatory synapse numbers but a remarkable decrease in synaptic strength. The syndromic autism mutation NLGN4-R704C elicited more excitatory synapses but with increased functional synaptic transmission via a postsynaptic mechanism. | Neuroligin-4 Regulates Excitatory Synaptic Transmission in Human Neurons. Marro SG, Chanda S, Yang N, Janas JA, Valperga G, Trotter J, Zhou B, Merrill S, Yousif I, Shelby H, Vogel H, Kalani MYS, Südhof TC, Wernig M., Free PMC Article | 11/2/2019 |
the effects of rs1421589 within NRXN1, rs4844285 and rs11795613 within NLGN3, as well as rs5961397 within NLGX4X on Hirschsprung's disease phenotypes were also statistically significant. | Significance of neurexin and neuroligin polymorphisms in regulating risk of Hirschsprung's disease. Li Y, Liu H, Dong Y., Free PMC Article | 10/5/2019 |
Steady-state fluorescence and microscale thermophoresis experiments allowed the authors to confirm the binding of some of mycotoxins to acetylcholinesterase and X-linked neuroligin 4, two proteins involved in synapse activity and, particularly for the second protein, neuronal plasticity and development. | Binding of mycotoxins to proteins involved in neuronal plasticity: a combined in silico/wet investigation. Scafuri B, Varriale A, Facchiano A, D'Auria S, Raggi ME, Marabotti A., Free PMC Article | 07/6/2019 |
Our data suggest that these four previously described neuroligin mutations are not primary risk factors for autism. | Not all neuroligin 3 and 4X missense variants lead to significant functional inactivation. Xu X, Hu Z, Zhang L, Liu H, Cheng Y, Xia K, Zhang X., Free PMC Article | 07/21/2018 |
NLGN4X might represent novel biomarkers and therapeutic targets for breast cancer. Inhibition of NLGN4X may be a new target for the prevention and treatment of breast cancer | Neuroligin 4X overexpression in human breast cancer is associated with poor relapse-free survival. Henderson HJ, Karanam B, Samant R, Vig K, Singh SR, Yates C, Bedi D., Free PMC Article | 01/6/2018 |
Noncoding polymorphisms on NLGN4X may be associated to autism suggesting the key role of NLGN4X in autism pathophysiology and in its male prevalence. | Association Analysis of Noncoding Variants in Neuroligins 3 and 4X Genes with Autism Spectrum Disorder in an Italian Cohort. Landini M, Merelli I, Raggi ME, Galluccio N, Ciceri F, Bonfanti A, Camposeo S, Massagli A, Villa L, Salvi E, Cusi D, Molteni M, Milanesi L, Marabotti A, Mezzelani A., Free PMC Article | 03/25/2017 |
Endogenous NLGN4X is intensely phosphorylated on T707 upon PKC stimulation in human neurons. | Autism-associated mutation inhibits protein kinase C-mediated neuroligin-4X enhancement of excitatory synapses. Bemben MA, Nguyen QA, Wang T, Li Y, Nicoll RA, Roche KW., Free PMC Article | 05/2/2015 |
Our data provided a further evidence for the involvement of NLGN3 and NLGN4X gene in the pathogenesis of autism in Chinese population. | Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients. Xu X, Xiong Z, Zhang L, Liu Y, Lu L, Peng Y, Guo H, Zhao J, Xia K, Hu Z. | 02/14/2015 |
The present study explores, for the first time, the contribution of NLGN3 and NLGN4X genetic variants in Greek patients with autistic disorder. | Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism. Volaki K, Pampanos A, Kitsiou-Tzeli S, Vrettou C, Oikonomakis V, Sofocleous C, Kanavakis E. | 05/24/2014 |
In vitro models show NLGN4X knockdown directly impacts neurodevelopmental process during the formation of neurons and their connections. | The functional genetic link of NLGN4X knockdown and neurodevelopment in neural stem cells. Shi L, Chang X, Zhang P, Coba MP, Lu W, Wang K., Free PMC Article | 03/22/2014 |
Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population. | Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population. Liu Y, Du Y, Liu W, Yang C, Liu Y, Wang H, Gong X., Free PMC Article | 08/31/2013 |
Neuroligins are adhesion proteins that bind to beta-neurexin to form functional synapses. | Analysis of the genes encoding neuroligins NLGN3 and NLGN4 in Bulgarian patients with autism. Avdjieva-Tzavella DM, Todorov TP, Todorova AP, Kirov AV, Hadjidekova SP, Rukova BB, Litvinenko IO, Hristova-Naydenova DN, Tincheva RS, Toncheva DI. | 04/6/2013 |
Five genes have been directly disrupted in Tourette Syndrome by independent genomic rearrangements and copy number variations with unique breakpoints. | Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism. Clarke RA, Lee S, Eapen V., Free PMC Article | 03/2/2013 |
The autism-associated DeltaE4 mutation in NLGN4 compromises the ability of NLGN4 to localize correctly to the cell surface when overexpressed and to induce synaptic differentiation. | Investigating synapse formation and function using human pluripotent stem cell-derived neurons. Kim JE, O'Sullivan ML, Sanchez CA, Hwang M, Israel MA, Brennand K, Deerinck TJ, Goldstein LS, Gage FH, Ellisman MH, Ghosh A., Free PMC Article | 04/16/2011 |
results indicate that the genetic variants located in NLGN4 can affect the cognitive abilities of boys. | Gender differences in cognitive ability associated with genetic variants of NLGN4. Zhang K, Gao X, Qi H, Li J, Zheng Z, Zhang F. | 02/26/2011 |
Results suggest that unique conformational reshaping of the neuroligin 4 surface is required to permit neurexin 1beta association. | Structural insights into the exquisite selectivity of neurexin/neuroligin synaptic interactions. Leone P, Comoletti D, Ferracci G, Conrod S, Garcia SU, Taylor P, Bourne Y, Marchot P., Free PMC Article | 08/23/2010 |
finding further contributes to consideration of neuroligins as probable candidate genes for future molecular genetic studies, suggesting that a defect of synaptogenesis may predispose to autism | A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population. Pampanos A, Volaki K, Kanavakis E, Papandreou O, Youroukos S, Thomaidis L, Karkelis S, Tzetis M, Kitsiou-Tzeli S. | 01/21/2010 |
This study indicated that the phenotypic spectrum of NLGN4X mutations and overexpressed NLGN4X transcript is associated with autism and nonsyndromic mental profound mental retardation. | Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level. Daoud H, Bonnet-Brilhault F, Védrine S, Demattéi MV, Vourc'h P, Bayou N, Andres CR, Barthélémy C, Laumonnier F, Briault S. | 01/21/2010 |