| LncRNA-p21 suppresses cell proliferation and induces apoptosis in gastric cancer by sponging miR-514b-3p and up-regulating ARHGEF9 expression. | LncRNA-p21 suppresses cell proliferation and induces apoptosis in gastric cancer by sponging miR-514b-3p and up-regulating ARHGEF9 expression.
Ma X, Yan W, Xu P, Ma L, Zan Y, Huang L, Wang G, Liu L, Hui W. | 09/24/2022 |
| ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration. | ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.
Yang H, Liao H, Gan S, Xiao T, Wu L., Free PMC Article | 07/16/2022 |
| Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder. | Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.
Ghesh L, Besnard T, Nizon M, Trochu E, Landeau-Trottier G, Breheret F, Thauvin-Robinet C, Bruel AL, Kuentz P, Coubes C, Cuisset L, Mignot C, Keren B, Bézieau S, Cogné B. | 06/11/2022 |
| Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor alpha2 subunit. | Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA(A) receptor α2 subunit.
Hines DJ, Contreras A, Garcia B, Barker JS, Boren AJ, Moufawad El Achkar C, Moss SJ, Hines RM., Free PMC Article | 05/21/2022 |
| De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females. | De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.
Scala M, Zonneveld-Huijssoon E, Brienza M, Mecarelli O, van der Hout AH, Zambrelli E, Turner K, Zara F, Peron A, Vignoli A, Striano P. | 01/15/2022 |
| Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy. | Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy.
Yao R, Zhang Y, Liu J, Wang J, Xu Y, Li N, Wang J, Yu T. | 01/23/2021 |
| Identification of TAF1, SAT1, and ARHGEF9 as DNA methylation biomarkers for hepatocellular carcinoma. | Identification of TAF1, SAT1, and ARHGEF9 as DNA methylation biomarkers for hepatocellular carcinoma.
Cai C, Xie X, Zhou J, Fang X, Wang F, Wang M. | 08/29/2020 |
| Study identified a novel mutation in ARHGEF9, c.868C > T/p.R290C, which co-segregated with epileptic encephalopathy, and validated its association with epileptic encephalopathy. Further analysis revealed that all ARHGEF9 mutations were associated with intellectual disability. | ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.
Wang JY, Zhou P, Wang J, Tang B, Su T, Liu XR, Li BM, Meng H, Shi YW, Yi YH, He N, Liao WP. | 10/5/2019 |
| Autism spectrum disorder patient with the smallest inactivating deletion in the collybistin gene. | Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder.
Bhat G, LaGrave D, Millson A, Herriges J, Lamb AN, Matalon R. | 02/4/2017 |
| Collybistin forms a complex with mTOR and eIF3 and by sequestering these proteins downregulates mTORC1 signaling and protein synthesis potentially contributing to intellectual disability and autism. | Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism.
Machado CO, Griesi-Oliveira K, Rosenberg C, Kok F, Martins S, Passos-Bueno MR, Sertie AL., Free PMC Article | 09/24/2016 |
| Impairment of the membrane lipid binding activity of Collybistin R290H and a consequent defect in inhibitory synapse maturation represent a likely molecular pathomechanism of epilepsy and mental retardation in humans. | Lipid binding defects and perturbed synaptogenic activity of a Collybistin R290H mutant that causes epilepsy and intellectual disability.
Papadopoulos T, Schemm R, Grubmüller H, Brose N., Free PMC Article | 06/6/2015 |
| The enhancement of Cb-induced gephyrin clustering by GTP-TC10 does not depend on the guanine nucleotide exchange activity of Cb but involves an interaction that resembles reported interactions of other small GTPases with their effectors | Collybistin activation by GTP-TC10 enhances postsynaptic gephyrin clustering and hippocampal GABAergic neurotransmission.
Mayer S, Kumar R, Jaiswal M, Soykan T, Ahmadian MR, Brose N, Betz H, Rhee JS, Papadopoulos T., Free PMC Article | 03/1/2014 |
| Phosphorylation of gephyrin in hippocampal neurons by cyclin-dependent kinase CDK5 at Ser-270 is dependent on collybistin. | Phosphorylation of gephyrin in hippocampal neurons by cyclin-dependent kinase CDK5 at Ser-270 is dependent on collybistin.
Kuhse J, Kalbouneh H, Schlicksupp A, Mükusch S, Nawrotzki R, Kirsch J., Free PMC Article | 11/24/2012 |
| Data indicate that ARHGEF9 is likely to be responsible for syndromic X-linked mental retardation associated with epilepsy. | Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.
Shimojima K, Sugawara M, Shichiji M, Mukaida S, Takayama R, Imai K, Yamamoto T. | 01/28/2012 |
| These results reveal that G(s) and G(q) signalings regulate hPEM-2 functions through PKA and c-Src in Neuro-2a neuroblastoma cells, respectively. | Gs and Gq signalings regulate hPEM-2-induced cell responses in Neuro-2a cells.
Nagae R, Sato K, Yasui Y, Banno Y, Nagase T, Ueda H. | 01/14/2012 |
| major regulator of GABAergic postsynaptic gephyrin clustering | Collybistin splice variants differentially interact with gephyrin and Cdc42 to regulate gephyrin clustering at GABAergic synapses.
Tyagarajan SK, Ghosh H, Harvey K, Fritschy JM., Free PMC Article | 12/10/2011 |
| Study propose that the collybistin-gephyrin complex has an intimate role in the clustering of GABA(A)Rs containing the alpha2 subunit. | Complex role of collybistin and gephyrin in GABAA receptor clustering.
Saiepour L, Fuchs C, Patrizi A, Sassoè-Pognetto M, Harvey RJ, Harvey K., Free PMC Article | 10/4/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Mutation of ARHGAP9 in patients with coronary spastic angina.
Takefuji M, Asano H, Mori K, Amano M, Kato K, Watanabe T, Morita Y, Katsumi A, Itoh T, Takenawa T, Hirashiki A, Izawa H, Nagata K, Hirayama H, Takatsu F, Naoe T, Yokota M, Kaibuchi K. | 01/20/2010 |
| Results show that hPEM-2 is a target protein of Smurf1. | Smurf1 directly targets hPEM-2, a GEF for Cdc42, via a novel combination of protein interaction modules in the ubiquitin-proteasome pathway.
Yamaguchi K, Ohara O, Ando A, Nagase T. | 01/21/2010 |
| translocates gephyrin to submembrane microaggregates; collybistin mutation (G55A)is found in exon 2 of the ARHGEF9 gene in a patient with clinical symptoms of both hyperekplexia and epilepsy | The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering.
Harvey K, Duguid IC, Alldred MJ, Beatty SE, Ward H, Keep NH, Lingenfelter SE, Pearce BR, Lundgren J, Owen MJ, Smart TG, Lüscher B, Rees MI, Harvey RJ., Free PMC Article | 01/21/2010 |
| Here we identified residues critical for interaction with gephyrin in the linker region between the SH3 and the DH domains of collybistin. | Identification of a gephyrin-binding motif in the GDP/GTP exchange factor collybistin.
Grosskreutz Y, Hermann A, Kins S, Fuhrmann JC, Betz H, Kneussel M. | 01/21/2010 |