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Journal articles on the topic 'DEPDC1A'

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Author: Grafiati

Published: 1 April 2023

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1

Kassambara, Alboukadel, Matthieu Schoenhals, Jérôme Moreaux, Jean-Luc Veyrune, Thierry Rème, Hartmut Goldschmidt, Dirk Hose, and Bernard Klein. "Inhibition of DEPDC1A, a Bad Prognostic Marker in Multiple Myeloma, Delays Growth and Induces Mature Plasma Cell Markers in Malignant Plasma Cells." PLoS ONE 8, no. 4 (April 30, 2013): e62752. http://dx.doi.org/10.1371/journal.pone.0062752.

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2

Xu, Wei, Juan Wang, Jinfu Xu, Shenyi Li, Ranran Zhang, Cong Shen, Min Xie, Bo Zheng, and Menghui Gu. "Long non-coding RNA DEPDC1-AS1 promotes proliferation and migration of human gastric cancer cells HGC-27 via the human antigen R–F11R pathway." Journal of International Medical Research 50, no. 4 (April 2022): 030006052210931. http://dx.doi.org/10.1177/03000605221093135.

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Objective Long non-coding (lnc) RNAs are critical regulators in carcinogenesis. The novel lncRNA DEPDC1 antisense RNA 1 ( DEPDC1-AS1) was recently associated with poor prognosis in triple-negative breast cancer and lung adenocarcinoma. However, its role in regulating the malignant progression of gastric cancer (GC) and its molecular mechanism are unclear. We herein explored the functions of DEPDC1-AS1 in GC progression. Methods DEPDC1-AS1 expression and prognosis in GC tissues were examined by bioinformatics analysis and quantitative reverse transcription polymerase chain reaction. The DEPDC1-AS1 function in GC cells was explored by the cell counting kit-8 assay, colony formation assay, Transwell assay, terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling, 5-ethynyl-2′-deoxyuridine-incorporation, and the xenograft tumor model. The DEPDC1-AS1 and human antigen (Hu)R interaction was determined by RNA pull-down and RNA immunoprecipitation. Results DEPDC1-AS1 was overexpressed in GC tissues and cell lines, and associated with a worse prognosis in GC patients. In vitro and in vivo assays showed that DEPDC1-AS1 promoted HGC-27 cell proliferation and migration. Mechanistically, DEPDC1-AS1 served as a scaffold by combining with HuR to target the specific mRNA F11R. Conclusion DEPDC1-AS1 plays a crucial role in GC development and progression and is a potential biomarker for the early detection or prognosis of GC.

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Xu, Wei, Juan Wang, Jinfu Xu, Shenyi Li, Ranran Zhang, Cong Shen, Min Xie, Bo Zheng, and Menghui Gu. "Long non-coding RNA DEPDC1-AS1 promotes proliferation and migration of human gastric cancer cells HGC-27 via the human antigen R–F11R pathway." Journal of International Medical Research 50, no. 4 (April 2022): 030006052210931. http://dx.doi.org/10.1177/03000605221093135.

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Objective Long non-coding (lnc) RNAs are critical regulators in carcinogenesis. The novel lncRNA DEPDC1 antisense RNA 1 ( DEPDC1-AS1) was recently associated with poor prognosis in triple-negative breast cancer and lung adenocarcinoma. However, its role in regulating the malignant progression of gastric cancer (GC) and its molecular mechanism are unclear. We herein explored the functions of DEPDC1-AS1 in GC progression. Methods DEPDC1-AS1 expression and prognosis in GC tissues were examined by bioinformatics analysis and quantitative reverse transcription polymerase chain reaction. The DEPDC1-AS1 function in GC cells was explored by the cell counting kit-8 assay, colony formation assay, Transwell assay, terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling, 5-ethynyl-2′-deoxyuridine-incorporation, and the xenograft tumor model. The DEPDC1-AS1 and human antigen (Hu)R interaction was determined by RNA pull-down and RNA immunoprecipitation. Results DEPDC1-AS1 was overexpressed in GC tissues and cell lines, and associated with a worse prognosis in GC patients. In vitro and in vivo assays showed that DEPDC1-AS1 promoted HGC-27 cell proliferation and migration. Mechanistically, DEPDC1-AS1 served as a scaffold by combining with HuR to target the specific mRNA F11R. Conclusion DEPDC1-AS1 plays a crucial role in GC development and progression and is a potential biomarker for the early detection or prognosis of GC.

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Hu, Feng, Ki On Fong, May P. L. Cheung, Jessica A. J. Liu, Rui Liang, Tsz Wai Li, Rakesh Sharma, Philip P. C. Ip, Xintao Yang, and Martin Cheung. "Abstract 5971: DEPDC1B promotes melanoma angiogenesis and metastasis through sequestration of ubiquitin ligase CDC16 to stabilize secreted SCUBE3." Cancer Research 82, no. 12_Supplement (June 15, 2022): 5971. http://dx.doi.org/10.1158/1538-7445.am2022-5971.

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Abstract The ability of melanoma to acquire metastasis through the induction of angiogenesis is one of the major causes of skin cancer death. Here, we find that high transcript levels of DEPDC1B in cutaneous melanomas are significantly associated with a poor prognosis. Tissue microarray analysis indicates DEPDC1B expression is positively correlated with SOX10 in the different stages of melanoma. Consistently, DEPDC1B is both required and sufficient for melanoma growth, metastasis, angiogenesis, and functions as a direct downstream target of SOX10 to partly mediate its oncogenic activity. In contrast to other tumor types, the DEPDC1B-mediated enhancement of melanoma metastatic potential is not dependent on the activities of RHO GTPase signaling and canonical Wnt signaling, but is acquired through secretion of SCUBE3, which is crucial for promoting angiogenesis in vitro and in vivo. Mechanistically, DEPDC1B regulates SCUBE3 protein stability through the competitive association with ubiquitin ligase CDC16 to prevent SCUBE3 from undergoing degradation via the ubiquitin-proteasome pathway. Importantly, expression of SOX10, DEPDC1B, and SCUBE3 are positively correlated with microvessel density in the advanced stage of melanomas. In conclusion, we reveal a SOX10-DEPDC1B-SCUBE3 regulatory axis promotes melanoma angiogenesis and metastasis, which suggests targeting secreted SCUBE3 can be a therapeutic strategy against metastatic melanoma. Citation Format: Feng Hu, Ki On Fong, May P.L Cheung, Jessica A.J Liu, Rui Liang, Tsz Wai Li, Rakesh Sharma, Philip P.C Ip, Xintao Yang, Martin Cheung. DEPDC1B promotes melanoma angiogenesis and metastasis through sequestration of ubiquitin ligase CDC16 to stabilize secreted SCUBE3 [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2022; 2022 Apr 8-13. Philadelphia (PA): AACR; Cancer Res 2022;82(12_Suppl):Abstract nr 5971.

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5

Ahuja, Palak, and Kailash Singh. "In Silico Approach for SAR Analysis of the Predicted Model of DEPDC1B: A Novel Target for Oral Cancer." Advances in Bioinformatics 2016 (February 29, 2016): 1–8. http://dx.doi.org/10.1155/2016/3136024.

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With the incidence rate of oral carcinogenesis increasing in the Southeast-Asian countries, due to increase in the consumption of tobacco and betel quid as well as infection from human papillomavirus, specifically type 16, it becomes crucial to predict the transition of premalignant lesion to cancerous tissue at an initial stage in order to control the process of oncogenesis. DEPDC1B, downregulated in the presence of E2 protein, was recently found to be overexpressed in oral cancer, which can possibly be explained by the disruption of the E2 open reading frame upon the integration of viral genome into the host genome. DEPDC1B mediates its effect by directly interacting with Rac1 protein, which is known to regulate important cell signaling pathways. Therefore, DEPDC1B can be a potential biomarker as well as a therapeutic target for diagnosing and curing the disease. However, the lack of 3D model of the structure makes the utilization of DEPDC1B as a therapeutic target difficult. The present study focuses on the prediction of a suitable 3D model of the protein as well as the analysis of protein-protein interaction between DEPDC1B and Rac1 protein using PatchDock web server along with the identification of allosteric or regulatory sites of DEPDC1B.

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Lou, Tingting, Luqing Zhang, Zongshan Jin, Chundi Miao, Jinqiu Wang, and Kongliang Ke. "miR-455-5p enhances 5-fluorouracil sensitivity in colorectal cancer cells by targeting PIK3R1 and DEPDC1." Open Medicine 17, no. 1 (January 1, 2022): 847–56. http://dx.doi.org/10.1515/med-2022-0474.

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Abstract Our previous study has demonstrated that miR-455-5p was a tumor suppressor in colorectal cancer (CRC). This study aimed to investigate the role of miR-455-5p in 5-fluorouracil (5-Fu) in CRC. The expression of miR-455-5p, PIK3R1, and DEPDC1 was analyzed in HT-29 cells after treatment with different concentrations (0, 0.5, 2.5, and 12.5 μM) of 5-Fu. The effects of miR-455-5p on cell proliferation and apoptosis were analyzed by CCK-8 and flow cytometry. PIK3R1 and DEPDC1 were overexpressed to measure the mechanism of miR-455-5p on 5-Fu sensitivity. And the direct binding between miR-455-5p and DEPDC1 was detected by a dual-luciferase reporter assay. We found that miR-455-5p decreased, while PIK3R1 and DEPDC1 increased after 5-Fu treatment. miR-455-5p mimic significantly suppressed cell viability and elevated cell apoptosis in 5-Fu-treated HT-29 cells, whereas miR-455-5p inhibitor showed the opposite effects. Overexpression of PIK3R1 and DEPDC1 could attenuate the effects of miR-455-5p mimic on the viability and apoptosis of 5-Fu-treated cells. miR-455-5p could directly bind to DEPDC1 in HT-29 cells. In conclusion, miR-455-5p enhanced 5-Fu sensitivity by targeting PIK3R1 and DEPDC1 in CRC. This study provides a novel role of miR-455-5p in CRC and restoring miR-455-5p might be a therapeutic strategy to enhance chemosensitivity to 5-Fu.

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Huang, Guangzhao, Su Chen, Jumpei Washio, Grace Paka Paka Lubamba, Nobuhiro Takahashi, and Chunjie Li. "Glycolysis-Related Gene Analyses Indicate That DEPDC1 Promotes the Malignant Progression of Oral Squamous Cell Carcinoma via the WNT/β-Catenin Signaling Pathway." International Journal of Molecular Sciences 24, no. 3 (January 19, 2023): 1992. http://dx.doi.org/10.3390/ijms24031992.

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Increasing evidence suggests that aerobic glycolysis is related to the progression of oral squamous cell carcinoma (OSCC). Hence, we focused on glycolysis-related gene sets to screen for potential therapeutic targets for OSCC. The expression profiles of OSCC samples and normal controls were obtained from The Cancer Genome Atlas (TCGA). Then, the differentially expressed gene sets were selected from the official GSEA website following extraction of the differentially expressed core genes (DECGs). Subsequently, we tried to build a risk model on the basis of DECGs to predict the prognosis of OSCC patients via Cox regression analysis. Furthermore, crucial glycolysis-related genes were selected to explore their biological roles in OSCC. Two active glycolysis-related pathways were acquired and 66 DECGs were identified. Univariate Cox regression analysis showed that six genes, including HMMR, STC2, DDIT4, DEPDC1, SLC16A3, and AURKA, might be potential prognostic factors. Subsequently, a risk formula consisting of DEPDC1, DDIT4, and SLC16A3 was established on basis of the six molecules. Furthermore, DEPDC1 was proven to be related to advanced stage cancer and lymph node metastasis. Moreover, functional experiments suggested that DEPDC1 promoted the aerobic glycolysis, migration, and invasion of OSCC via the WNT/β-catenin pathway. The risk score according to glycolysis-related gene expression might be an independent prognostic factor in OSCC. In addition, DEPDC1 was identified as playing a carcinogenic role in OSCC progression, suggesting that DEPDC1 might be a novel biomarker and therapeutic target for OSCC.

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Bin, Xiaoyun, Zongjiang Luo, Jianchu Wang, and Sufang Zhou. "Identification of a Five Immune Term Signature for Prognosis and Therapy Options (Immunotherapy versus Targeted Therapy) for Patients with Hepatocellular Carcinoma." Computational and Mathematical Methods in Medicine 2023 (February 2, 2023): 1–17. http://dx.doi.org/10.1155/2023/8958962.

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Background. Immune microenvironment implicated in liver cancer development. Nevertheless, previous studies have not fully investigated the immune microenvironment in liver cancer. Methods. The open-access data used for analysis were obtained from The Cancer Genome Atlas (TCGA-LIHC) and the International Cancer Genome Consortium databases (ICGC-JP and ICGC-FR). R program was employed to analyze all the data statistically. Results. First, the TCGA-LIHC, ICGC-FR, and ICGC-JP cohorts were selected for our analysis, which were merged into a combined cohort. Then, we quantified 53 immune terms in this combined cohort with large populations using the ssGSEA algorithm. Next, a prognostic approach was established based on five immune principles (CORE.SERUM.RESPONSE.UP, angiogenesis, CD8.T.cells, Th2.cells, and B.cells) was established, which showed great prognostic prediction efficiency. Clinical correlation analysis demonstrated that high-risk patients could reveal higher progressive clinical features. Next, to examine the inherent biological variations in high- and low-risk patients, pathway enrichment tests were conducted. DNA repair, E2F targets, G2M checkpoints, HEDGEHOG signaling, mTORC1 signaling, and MYC target were positively correlated with the risk score. Examination of genomic instability revealed that high-risk patients may exhibit a higher tumor mutation burden score. Meanwhile, the risk score showed a strong positive correlation with the tumor stemness index. In addition, the Tumor Immune Dysfunction and Exclusion outcome indicated that high-risk patients could be higher responsive to immunotherapy, whereas low-risk patients may be higher responsive to Erlotinib. Finally, six characteristic genes DEPDC1, DEPDC1B, NGFR, CALCRL, PRR11, and TRIP13 were identified for risk group prediction. Conclusions. In summary, our study identified a signature as a useful tool to indicate prognosis and therapy options for liver cancer patients.

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Pang, Yuzhi, Feifei Xie, Hui Cao, Chunmeng Wang, Meijun Zhu, Xiaoxiao Liu, Xiaojing Lu, et al. "Mutational inactivation of mTORC1 repressor gene DEPDC5 in human gastrointestinal stromal tumors." Proceedings of the National Academy of Sciences 116, no. 45 (October 21, 2019): 22746–53. http://dx.doi.org/10.1073/pnas.1914542116.

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Gastrointestinal stromal tumors (GISTs) are the most common human sarcoma and are initiated by activating mutations in the KIT or PDGFRA receptor tyrosine kinases. Chromosome 22q deletions are well-recognized frequent abnormalities in GISTs, occurring in ∼50% of GISTs. These deletions are thought to contribute to the pathogenesis of this disease via currently unidentified tumor suppressor mechanisms. Using whole exome sequencing, we report recurrent genomic inactivated DEPDC5 gene mutations in GISTs (16.4%, 9 of 55 patients). The demonstration of clonal DEPDC5 inactivation mutations in longitudinal specimens and in multiple metastases from individual patients suggests that these mutations have tumorigenic roles in GIST progression. DEPDC5 inactivation promotes GIST tumor growth in vitro and in nude mice. DEPDC5 reduces cell proliferation through the mTORC1-signaling pathway and subsequently induces cell-cycle arrest. Furthermore, DEPDC5 modulates the sensitivity of GIST to KIT inhibitors, and the combination therapy with mTOR inhibitor and KIT inhibitor may work better in GIST patients with DEPDC5 inactivation. These findings of recurrent genomic alterations, together with functional data, validate the DEPDC5 as a bona fide tumor suppressor contributing to GIST progression and a biologically relevant target of the frequent chromosome 22q deletions.

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Motomura, Takashi, Yuki Ono, Ken Shirabe, Takasuke Fukuhara, Hideyuki Konishi, Yohei Mano, Takeo Toshima, et al. "Neither MICA Nor DEPDC5 Genetic Polymorphisms Correlate with Hepatocellular Carcinoma Recurrence following Hepatectomy." HPB Surgery 2012 (October 24, 2012): 1–6. http://dx.doi.org/10.1155/2012/185496.

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Purpose. Genetic polymorphisms of MICA and DEPDC5 have been reported to correlate with progression to hepatocellular carcinoma (HCC) in chronic hepatitis C patients. However, correlation of these genetic variants with HCC recurrence following hepatectomy has not yet been clarified. Methods. Ninety-six consecutive HCC patients who underwent hepatectomy, including 64 patients who were hepatitis C virus (HCV) positive, were genotyped for MICA (rs2596542) and DEPDC5 (rs1012068). Recurrence-free survival rates (RFS) were compared for each genotype. Results. Five-year HCC recurrence-free survival (RFS) rates following hepatectomy were 20.7% in MICA GG allele carriers, 38.7% in GA, and 20.8% in AA, respectively (P=0.72). The five-year RFS rate was 23.8% in DEPDC5 TT allele carriers and 31.8% in TG/GG, respectively (P=0.47). The survival rates in all (including HCV-negative) patients were also similar among each MICA and DEPDC5 genotype following hepatectomy. Among HCV-positive patients carrying the DEPDC5 TG/GG allele, low fibrosis stage (F0-2) occurred more often compared with TT carriers (P<0.05). Conclusions. Neither MICA nor DEPDC5 genetic polymorphism correlates with HCC recurrence following hepatectomy. DEPDC5 minor genotype data suggest a high susceptibility for HCC development in livers, even those with low fibrosis stages.

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Zhao, Yanting, Helen Zhang, Jack M. Parent, and Lori L. Isom. "4346 Potential Sudden Unexpected Death in Epilepsy (SUDEP) Biomarkers in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes with DEPDC5 Loss-of-Function." Journal of Clinical and Translational Science 4, s1 (June 2020): 100. http://dx.doi.org/10.1017/cts.2020.311.

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OBJECTIVES/GOALS: Sudden Unexpected Death in Epilepsy (SUDEP) is a leading cause of death in epilepsy patients. This study aims to determine whether cardiac mechanisms contribute to SUDEP in epilepsy patients with variants in DEPDC5, a gene encoding a member of the mTOR GATOR complex, to identify SUDEP biomarkers. METHODS/STUDY POPULATION: SUDEP has been reported in 10% of epilepsy patients with DEPDC5 loss-of-function variants. We used human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) to measure changes in cellular excitability that are known to be substrates for cardiac arrhythmias. CRISPR-derived isogenic DEPDC5 iPSC-CMs and DEPDC5 patient-derived iPSC-CMs were used in this study. Whole-cell patch-clamp was used to measure voltage-gated sodium current (INa) and calcium current (I>Ca) in single iPSC-CMs in voltage-clamp mode; and to measure action potentials (APs) in 3-dimentional iPSC-CM-derived micro-tissues in current-clamp mode. RESULTS/ANTICIPATED RESULTS: CRISPR generated heterozygous deletion of 1 base-pair in the first coding exon of DEPDC5 gene, resulting in a premature stop codon, simulated the variants identified in DEPDC5 epilepsy patients. In CRISPR generated heterozygousDEPDC5 iPSC-CMs, whole-cell voltage-clamp recordings revealed that INa was increased and ICa was reduced compared with isogenic control iPSC-CMs. Whole-cell current-clamp recordings revealed that AP duration at 80% and 90% of repolarization, APD80 and APD90, respectively, were prolonged compared to isogenic control iPSC-CMs. Similar measurements will be performed for iPSC-CMs derived from DEPDC5 patients. DISCUSSION/SIGNIFICANCE OF IMPACT: This study shows that epilepsy patients with non-ion channel gene variants in DEPDC5 have altered CM excitability, which may serve as a substrate for cardiac arrhythmias in DEPDC5 patients. Importantly, this work may allow us to identify biomarkers for SUDEP risk in these patients in the future. CONFLICT OF INTEREST DESCRIPTION: L.L.I. is the recipient of a collaborative research grant from Stoke Therapeutics.

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Yuskaitis, Christopher J., Leigh-Ana Rossitto, Sarika Gurnani, Elizabeth Bainbridge, Annapurna Poduri, and Mustafa Sahin. "Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice." Human Molecular Genetics 28, no. 17 (May 17, 2019): 2952–64. http://dx.doi.org/10.1093/hmg/ddz123.

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Abstract DEPDC5 is now recognized as one of the genes most often implicated in familial/inherited focal epilepsy and brain malformations. Individuals with pathogenic variants in DEPDC5 are at risk for epilepsy, associated neuropsychiatric comorbidities and sudden unexplained death in epilepsy. Depdc5flox/flox-Syn1Cre (Depdc5cc+) neuronal-specific Depdc5 knockout mice exhibit seizures and neuronal mTORC1 hyperactivation. It is not known if Depdc5cc+ mice have a hyperactivity/anxiety phenotype, die early from terminal seizures or whether mTOR inhibitors rescue DEPDC5-related seizures and associated comorbidities. Herein, we report that Depdc5cc+ mice were hyperactive in open-field testing but did not display anxiety-like behaviors on the elevated-plus maze. Unlike many other mTOR-related models, Depdc5cc+ mice had minimal epileptiform activity and rare seizures prior to seizure-induced death, as confirmed by video-EEG monitoring. Treatment with the mTORC1 inhibitor rapamycin starting after 3 weeks of age significantly prolonged the survival of Depdc5cc+ mice and partially rescued the behavioral hyperactivity. Rapamycin decreased the enlarged brain size of Depdc5cc+ mice with corresponding decrease in neuronal soma size. Loss of Depdc5 led to a decrease in the other GATOR1 protein levels (NPRL2 and NPRL3). Rapamycin failed to rescue GATOR1 protein levels but rather rescued downstream mTORC1 hyperactivity as measured by phosphorylation of S6. Collectively, our data provide the first evidence of behavioral alterations in mice with Depdc5 loss and support mTOR inhibition as a rational therapeutic strategy for DEPDC5-related epilepsy in humans.

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Klofas, Lindsay K., Brittany P. Short, Chengwen Zhou, and Robert P. Carson. "Prevention of premature death and seizures in a Depdc5 mouse epilepsy model through inhibition of mTORC1." Human Molecular Genetics 29, no. 8 (April 13, 2020): 1365–77. http://dx.doi.org/10.1093/hmg/ddaa068.

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Abstract Mutations in DEP domain containing 5 (DEPDC5) are increasingly appreciated as one of the most common causes of inherited focal epilepsy. Epilepsies due to DEPDC5 mutations are often associated with brain malformations, tend to be drug-resistant, and have been linked to an increased risk of sudden unexplained death in epilepsy (SUDEP). Generation of epilepsy models to define mechanisms of epileptogenesis remains vital for future therapies. Here, we describe a novel mouse model of Depdc5 deficiency with a severe epilepsy phenotype, generated by conditional deletion of Depdc5 in dorsal telencephalic neuroprogenitor cells. In contrast to control and heterozygous mice, Depdc5-Emx1-Cre conditional knockout (CKO) mice demonstrated macrocephaly, spontaneous seizures and premature death. Consistent with increased mTORC1 activation, targeted neurons were enlarged and both neurons and astrocytes demonstrated increased S6 phosphorylation. Electrophysiologic characterization of miniature inhibitory post-synaptic currents in excitatory neurons was consistent with impaired post-synaptic response to GABAergic input, suggesting a potential mechanism for neuronal hyperexcitability. mTORC1 inhibition with rapamycin significantly improved survival of CKO animals and prevented observed seizures, including for up to 40 days following rapamycin withdrawal. These data not only support a primary role for mTORC1 hyperactivation in epilepsy following homozygous loss of Depdc5, but also suggest a developmental window for treatment which may have a durable benefit for some time even after withdrawal.

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Garcia-Mata, Rafael. "Arrested Detachment: A DEPDC1B-Mediated De-adhesion Mitotic Checkpoint." Developmental Cell 31, no. 4 (November 2014): 387–89. http://dx.doi.org/10.1016/j.devcel.2014.11.008.

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Farhan, Hanan, Khadiga Abougabal, Heba Gaber, and Dina Attia. "Disheveled EGL-10 and pleckstrin domain-containing 5 rs1012068 T/G gene polymorphism among Egyptian chronic HCV-infected patients: disease progression and related complications." Egyptian journal of Immunology 29 (July 1, 2022): 36–43. http://dx.doi.org/10.55133/eji.290305.

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Hepatitis C virus (HCV) infection related complications including fibrosis, cirrhosis and hepatocellular carcinoma (HCC) are influenced by host genetic factors. Identification of emerging host genetic variations is of promising value. Disheveled EGL-10 and pleckstrin domain-containing 5 (DEPDC5) rs1012068 T/G gene polymorphism has been implicated in liver disease. This study aimed to assess DEPDC5 rs1012068 T/G gene polymorphism with disease progression and related complications among Egyptian patients with chronic HCV infection. Sixty chronic HCV-infected patients and 60 apparently healthy controls were recruited in this study. Patients were classified into 20 with liver fibrosis, 20 with liver cirrhosis and 20 with HCC; all recruited from Outpatients Clinic and Tropical Medicine Inpatient Department, Faculty of Medicine, Beni-Suef University Hospital. DEPDC5 rs1012068 T/G gene polymorphism was assayed by real time-polymerase chain reaction (RT-PCR) TaqMan allelic discrimination. DEPDC5 rs1012068 GG genotype and G allele variants showed statistically significant higher frequency among patients with liver fibrosis when compared to controls (OR (95% CI) 10.500 (2.086 – 52.851), P= 0.004 and 0.388 (0.155 – 0.971), P= 0.011), respectively. DEPDC5 rs1012068G allele variant showed statistically significant higher frequency among patients with liver fibrosis when compared to HCC patients (OR (95% CI) 3.316 (1.286 – 8.550), P= 0.012) and to both HCC and cirrhosis patients (OR (95% CI) 2.579 (1.187-5.645), P= 0.016). In conclusion, our results suggest that DEPDC5 rs1012068 G allele could be considered genetic risk allele for liver fibrosis and disease progression among Egyptian patients with chronic HCV infection.

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Padi, Sathish K. R., Neha Singh, Jeremiah J. Bearss, Virginie Olive, Jin H. Song, Marina Cardó-Vila, Andrew S. Kraft, and Koichi Okumura. "Phosphorylation of DEPDC5, a component of the GATOR1 complex, releases inhibition of mTORC1 and promotes tumor growth." Proceedings of the National Academy of Sciences 116, no. 41 (September 23, 2019): 20505–10. http://dx.doi.org/10.1073/pnas.1904774116.

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The Pim and AKT serine/threonine protein kinases are implicated as drivers of cancer. Their regulation of tumor growth is closely tied to the ability of these enzymes to mainly stimulate protein synthesis by activating mTORC1 (mammalian target of rapamycin complex 1) signaling, although the exact mechanism is not completely understood. mTORC1 activity is normally suppressed by amino acid starvation through a cascade of multiple regulatory protein complexes, e.g., GATOR1, GATOR2, and KICSTOR, that reduce the activity of Rag GTPases. Bioinformatic analysis revealed that DEPDC5 (DEP domain containing protein 5), a component of GATOR1 complex, contains Pim and AKT protein kinase phosphorylation consensus sequences. DEPDC5 phosphorylation by Pim and AKT kinases was confirmed in cancer cells through the use of phospho-specific antibodies and transfection of phospho-inactive DEPDC5 mutants. Consistent with these findings, during amino acid starvation the elevated expression of Pim1 overcame the amino acid inhibitory protein cascade and activated mTORC1. In contrast, the knockout of DEPDC5 partially blocked the ability of small molecule inhibitors against Pim and AKT kinases both singly and in combination to suppress tumor growth and mTORC1 activity in vitro and in vivo. In animal experiments knocking in a glutamic acid (S1530E) in DEPDC5, a phospho mimic, in tumor cells induced a significant level of resistance to Pim and the combination of Pim and AKT inhibitors. Our results indicate a phosphorylation-dependent regulatory mechanism targeting DEPDC5 through which Pim1 and AKT act as upstream effectors of mTORC1 to facilitate proliferation and survival of cancer cells.

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Obara, Wataru. "Adjuvant cancer peptide vaccine treatment with intravesical BCG therapy for non-muscle-invasive bladder cancer." Journal of Clinical Oncology 31, no. 15_suppl (May 20, 2013): e15587-e15587. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.e15587.

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e15587 Background: We previously reported safety and high immunogenicity of peptide vaccine treatment using two novel peptides derived from oncoantigens, M phase phosphoprotein 1 (MPHOSPH1) and DEP domain containing 1 (DEPDC1), for patients with advanced bladder cancer. We further conducted a multi-center phase II clinical trial using the same peptides to investigate the effectiveness to prevent recurrence after TURBt for patients with non-muscle invasive bladder cancer (NMIBC). Methods: The key eligibility criteria were patients with intermediate or high risk for NMIBC, with tumors having expression of MPHOSPH1 and/or DEPDC1, and with HLA class I expression on tumor cells. HLA-A24-restricted MPH and/or DEP derived peptide were subcutaneously administered in combination with intravesical BCG therapy after TUR-Bt. All enrolled patients had received the vaccination without knowing HLA-A status, and the HLA genotypes were used for a key-open marker. The primary endpoint was to examine effect on recurrence free survival (RFS) and secondary endpoint was induction of peptide-specific CTL response, injection site of reaction (ISR) and adverse effect. Results: A total of 133 patients were enrolled. RFS rates at 2 years in all patients were 74.4 %. Although the difference in RFS between the A24(+) and A24(-) groups (77.2% vs. 70.4%) was not statistically significant (p=0.24), that in the ISR-positive group was significantly better than that in the ISR-negative group (81.6% vs. 54.3%, p=0.0004). The peptide vaccine treatment was well-tolerated without any treatment- associated severe adverse events, while the bladder irritability caused by BCG treatment was observed in 64 cases (48.1%). The MPHOSPH1 and DEPDC1 peptide-specific CTL responses in the 24(+) group were observed in 82 % and 83 % of patients, respectively. Four (7.4%) cases in the 24(-) group revealed the peptide-specific CTL response, indicating some cross-reactivity against the vaccinated peptides on other HLA allele(s). Conclusions: Combination immunotherapy of intravesical BCG and cancer peptide vaccine demonstrated the promising clinical effect on recurrence prevention for NMIBC as well as good immunogenicity and safety. Clinical trial information: 00633204.

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Jansen, Laura A. "Delving Deeper into DEPDC5." Epilepsy Currents 18, no. 3 (May 1, 2018): 197–99. http://dx.doi.org/10.5698/1535-7597.18.3.197.

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Li, Pulin, Xiaojuan Chen, Sijing Zhou, Xingyuan Xia, Enze Wang, Rui Han, Daxiong Zeng, Guanghe Fei, and Ran Wang. "High Expression of DEPDC1B Predicts Poor Prognosis in Lung Adenocarcinoma." Journal of Inflammation Research Volume 15 (July 2022): 4171–84. http://dx.doi.org/10.2147/jir.s369219.

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Dang, Xiao-Wei, Qi Pan, Zhen-Hai Lin, Hao-Hao Wang, Lu-Hao Li, Lin Li, Dong-Qi Shen, and Pei-Ju Wang. "Overexpressed DEPDC1B contributes to the progression of hepatocellular carcinoma by CDK1." Aging 13, no. 16 (May 25, 2021): 20094–115. http://dx.doi.org/10.18632/aging.203016.

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21

Marchesi, Stefano, Francesca Montani, Gianluca Deflorian, Rocco D’Antuono, Alessandro Cuomo, Serena Bologna, Carmela Mazzoccoli, Tiziana Bonaldi, Pier Paolo Di Fiore, and Francesco Nicassio. "DEPDC1B Coordinates De-adhesion Events and Cell-Cycle Progression at Mitosis." Developmental Cell 31, no. 4 (November 2014): 420–33. http://dx.doi.org/10.1016/j.devcel.2014.09.009.

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22

IGASE, Masaya, Yuki MORINAGA, Masahiro KATO, Toshihiro TSUKUI, Yusuke SAKAI, Masaru OKUDA, and Takuya MIZUNO. "Establishment of rat anti-canine DEP domain containing 1B (DEPDC1B) monoclonal antibodies." Journal of Veterinary Medical Science 82, no. 4 (2020): 483–87. http://dx.doi.org/10.1292/jvms.19-0667.

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23

Samanta, Debopam. "DEPDC5-related epilepsy: A comprehensive review." Epilepsy & Behavior 130 (May 2022): 108678. http://dx.doi.org/10.1016/j.yebeh.2022.108678.

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24

Feng, Xuefei, Chundong Zhang, Ling Zhu, Lian Zhang, Hongxia Li, Longxia He, Yan Mi, Yitao Wang, Jiang Zhu, and Youquan Bu. "DEPDC1 is required for cell cycle progression and motility in nasopharyngeal carcinoma." Oncotarget 8, no. 38 (June 29, 2017): 63605–19. http://dx.doi.org/10.18632/oncotarget.18868.

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25

Mi, Yan, Chundong Zhang, Youquan Bu, Ying Zhang, Longxia He, Hongxia Li, Huifang Zhu, Yi Li, Yunlong Lei, and Jiang Zhu. "DEPDC1 is a novel cell cycle related gene that regulates mitotic progression." BMB Reports 48, no. 7 (July 31, 2015): 413–18. http://dx.doi.org/10.5483/bmbrep.2015.48.7.036.

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26

Kikuchi, Ryogo, Masahiro Toda, Oltea Sampetrean, Hideyuki Saya, and Kazunari Yoshida. "CBIO-17EXPRESSION AND FUNCTIONAL ANALYSIS OF AN ONCOANTIGEN, DEPDC1, IN MALIGNANT GLIOMA." Neuro-Oncology 17, suppl 5 (November 2015): v58.3—v58. http://dx.doi.org/10.1093/neuonc/nov209.17.

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27

Wang, Wei, Aili Li, Xiaodan Han, Qingqing Wang, Jinyong Guo, Youru Wu, Chen Wang, and Guojin Huang. "DEPDC1 up‐regulates RAS expression to inhibit autophagy in lung adenocarcinoma cells." Journal of Cellular and Molecular Medicine 24, no. 22 (October 5, 2020): 13303–13. http://dx.doi.org/10.1111/jcmm.15947.

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28

Kanehira, M., Y. Harada, R. Takata, T. Shuin, T. Miki, T. Fujioka, Y. Nakamura, and T. Katagiri. "Involvement of upregulation of DEPDC1 (DEP domain containing 1) in bladder carcinogenesis." Oncogene 26, no. 44 (April 23, 2007): 6448–55. http://dx.doi.org/10.1038/sj.onc.1210466.

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29

Weston, Matthew. "Getting Sucker Punched by Depdc5 Really Hurts." Epilepsy Currents 20, no. 6 (September 14, 2020): 378–80. http://dx.doi.org/10.1177/1535759720956992.

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30

Chen, Dan, Satoko Ito, Toshinori Hyodo, Eri Asano-Inami, Hong Yuan, and Takeshi Senga. "Phosphorylation of DEPDC1 at Ser110 is required to maintain centrosome organization during mitosis." Experimental Cell Research 358, no. 2 (September 2017): 101–10. http://dx.doi.org/10.1016/j.yexcr.2017.06.005.

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31

Ramalho-Carvalho, João, João Barbosa Martins, Lina Cekaite, Anita Sveen, Jorge Torres-Ferreira, Inês Graça, Pedro Costa-Pinheiro, et al. "Epigenetic disruption of miR-130a promotes prostate cancer by targeting SEC23B and DEPDC1." Cancer Letters 385 (January 2017): 150–59. http://dx.doi.org/10.1016/j.canlet.2016.10.028.

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32

Kikuchi, Ryogo, Oltea Sampetrean, Hideyuki Saya, Kazunari Yoshida, and Masahiro Toda. "Functional analysis of the DEPDC1 oncoantigen in malignant glioma and brain tumor initiating cells." Journal of Neuro-Oncology 133, no. 2 (May 29, 2017): 297–307. http://dx.doi.org/10.1007/s11060-017-2457-1.

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Tsai, M. H., C. K. Chan, Y. C. Chang, Y. T. Yu, S. T. Chuang, W. L. Fan, S. C. Li, et al. "DEPDC5 mutations in familial and sporadic focal epilepsy." Clinical Genetics 92, no. 4 (March 30, 2017): 397–404. http://dx.doi.org/10.1111/cge.12992.

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34

Myers, Kenneth A., and Ingrid E. Scheffer. "DEPDC5 as a potential therapeutic target for epilepsy." Expert Opinion on Therapeutic Targets 21, no. 6 (April 13, 2017): 591–600. http://dx.doi.org/10.1080/14728222.2017.1316715.

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35

Marsan, Elise, Saeko Ishida, Adrien Schramm, Sarah Weckhuysen, Giuseppe Muraca, Sarah Lecas, Ning Liang, et al. "Depdc5 knockout rat: A novel model of mTORopathy." Neurobiology of Disease 89 (May 2016): 180–89. http://dx.doi.org/10.1016/j.nbd.2016.02.010.

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36

Ishida, Saeko. "DEPDC5, a new key to understand various epilepsies." Folia Pharmacologica Japonica 152, no. 6 (2018): 281–85. http://dx.doi.org/10.1254/fpj.152.281.

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37

Ishida, Saeko, Fabienne Picard, Gabrielle Rudolf, Eric Noé, Guillaume Achaz, Pierre Thomas, Pierre Genton, et al. "Mutations of DEPDC5 cause autosomal dominant focal epilepsies." Nature Genetics 45, no. 5 (March 31, 2013): 552–55. http://dx.doi.org/10.1038/ng.2601.

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38

Yang, Mian, Haibin He, Tao Peng, Yi Lu, and Jiazi Yu. "Identification of 9 Gene Signatures by WGCNA to Predict Prognosis for Colon Adenocarcinoma." Computational Intelligence and Neuroscience 2022 (March 29, 2022): 1–15. http://dx.doi.org/10.1155/2022/8598046.

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Abstract:

Background. A risk assessment model for prognostic prediction of colon adenocarcinoma (COAD) was established based on weighted gene co-expression network analysis (WGCNA). Methods. From the Cancer Genome Atlas (TCGA) database, RNA-seq data and clinical data of COAD patients were retrieved. After screening of differentially expressed genes (DEGs), WGCNA was performed to identify gene modules and screen those associated with COAD progression. Then, via protein-protein interaction (PPI) network construction of module genes, hub genes were obtained, which were then subjected to the least absolute shrinkage and selection operator (LASSO) and Cox regression to build a hub gene-based prognostic scoring model. The receiver operating characteristic curve (ROC curve) was plotted for the optimal cutoff (OCO) of the risk score, based on which, patients were assigned to high or low-risk groups. Areas under the ROC curve (AUCs) were calculated, and model performance was visualized using Kaplan–Meier (KM) survival curves and verified in the external dataset GSE29621. Finally, the model’s independent prognostic value was evaluated by univariate and multivariate Cox regression analyses, and a nomogram was built. Results. Totally 2840 DEGs were screened from COAD dataset of TCGA, including 1401 upregulated ones and 1439 downregulated ones, which were divided into 10 modules by WGCNA. The eigenvalue of the black module was found to have a high correlation with COAD progression. PPI interaction networks were constructed for genes in the black module, and 34 hub genes were obtained by using the MCODE plug-in. A LASSO-Cox regression approach was utilized to analyze the hub genes, and a prognostic risk score model based on the signatures of 9 genes (CHEK1, DEPDC1B, FANCI, MCM10, NCAPG, PARPBP, PLK4, RAD51AP1, and RFC4) was constructed. KM analysis identified shorter overall lower survival in the high-risk group. The model was verified to have favorable predictive ability through training set and validation set. The nomogram, composed of tumor node metastasis (TNM) staging and risk score, was of good predictability. Conclusions. The COAD prognostic risk model constructed upon the signatures of 9 genes (CHEK1, DEPDC1B, FANCI, MCM10, NCAPG, PARPBP, PLK4, RAD51AP1, and RFC4) can effectively predict the survival status of COAD patients.

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39

Tosi, Anna, Silvia Dalla Santa, Elisa Cappuzzello, Carolina Marotta, Dawid Walerich, Giannino Del Sal, Paola Zanovello, Roberta Sommaggio, and Antonio Rosato. "Identification of a HLA-A*0201-restricted immunogenic epitope from the universal tumor antigen DEPDC1." OncoImmunology 6, no. 8 (April 5, 2017): e1313371. http://dx.doi.org/10.1080/2162402x.2017.1313371.

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40

Harada, Yosuke, Mitsugu Kanehira, Yoshiko Fujisawa, Ryo Takata, Taro Shuin, Tsuneharu Miki, Tomoaki Fujioka, Yusuke Nakamura, and Toyomasa Katagiri. "Cell-Permeable Peptide DEPDC1-ZNF224 Interferes with Transcriptional Repression and Oncogenicity in Bladder Cancer Cells." Cancer Research 70, no. 14 (June 29, 2010): 5829–39. http://dx.doi.org/10.1158/0008-5472.can-10-0255.

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41

Sendoel, Ataman, Simona Maida, Xue Zheng, Youjin Teo, Lilli Stergiou, Carlo-Alberto Rossi, Deni Subasic, et al. "DEPDC1/LET-99 participates in an evolutionarily conserved pathway for anti-tubulin drug-induced apoptosis." Nature Cell Biology 16, no. 8 (July 27, 2014): 812–20. http://dx.doi.org/10.1038/ncb3010.

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42

Huang, Lin, Keng Chen, Zhao-peng Cai, Fu-chao Chen, Hui-yong Shen, Wei-hua Zhao, Song-jie Yang, Xu-biao Chen, Guo-xue Tang, and Xi Lin. "DEPDC1 promotes cell proliferation and tumor growth via activation of E2F signaling in prostate cancer." Biochemical and Biophysical Research Communications 490, no. 3 (August 2017): 707–12. http://dx.doi.org/10.1016/j.bbrc.2017.06.105.

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43

Jia, Boquan, Jun Liu, Xin Hu, Lu Xia, and Ying Han. "Pan-cancer analysis of DEPDC1 as a candidate prognostic biomarker and associated with immune infiltration." Annals of Translational Medicine 10, no. 24 (December 2022): 1355. http://dx.doi.org/10.21037/atm-22-5598.

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44

Cui, Feilun, Jiangpeng Hu, Jian Tan, and Huaming Tang. "AB079. Upregulation of DEPDC1B correlates with tumor progression and predicts a poor prognosis in prostate cancer." Translational Andrology and Urology 6, S3 (August 2017): AB079. http://dx.doi.org/10.21037/tau.2017.s079.

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45

Hu, Feng, Ki On Fong, May Pui Lai Cheung, Jessica Aijia Liu, Rui Liang, Tsz Wai Li, Rakesh Sharma, Philip Pun‐Ching IP, Xintao Yang, and Martin Cheung. "DEPDC1B Promotes Melanoma Angiogenesis and Metastasis through Sequestration of Ubiquitin Ligase CDC16 to Stabilize Secreted SCUBE3." Advanced Science 9, no. 10 (January 27, 2022): 2105226. http://dx.doi.org/10.1002/advs.202105226.

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46

Xu, Yu, Wei Sun, Biqiang Zheng, Xin Liu, Zhiguo Luo, Yunyi Kong, Midie Xu, and Yong Chen. "DEPDC1B knockdown inhibits the development of malignant melanoma through suppressing cell proliferation and inducing cell apoptosis." Experimental Cell Research 379, no. 1 (June 2019): 48–54. http://dx.doi.org/10.1016/j.yexcr.2019.03.021.

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47

Van ’t Hof, Femke, and Eva Brilstra. "Focale epilepsie en de GATOR1 complex genen." Epilepsie, periodiek voor professionals 19, no. 2 (June 1, 2021): 11–13. http://dx.doi.org/10.54160/epilepsie.11027.

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Een monogene oorzaak bij focale epilepsie is minder zeldzaam dan vroeger werd gedacht. De meest voorkomende groep erfelijke, focale epilepsieën worden veroorzaakt door varianten in de GATOR1 complex genen (DEPDC5, NPRL2 en NPRL3), ook wel de ‘GATORopathieën’ genoemd. Er is steeds meer bekend over de verschillende ziekte-uitingen van deze aandoeningen, en zelfs over de consequenties voor behandeling. Dit maakt genetische diagnostiek belangrijk.

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48

Arenas-Cabrera, Carmen, Pablo Baena-Palomino, Javier Sánchez-García, María Oliver-Romero, Yamin Chocrón-González, and Manuel Caballero-Martínez. "Sleep-related hypermotor epilepsy with genetic diagnosis: description of a case series in a tertiary referral hospital." Journal of Central Nervous System Disease 14 (January 2022): 117957352110601. http://dx.doi.org/10.1177/11795735211060114.

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Introduction Sleep-related hypermotor epilepsy (SHE) is characterized by asymmetric tonic/dystonic posturing and/or complex hyperkinetic seizures occurring mostly during sleep. Experts agree that SHE should be considered a unique syndrome. PURPOSE We present 8 cases of SHE for which a genetic diagnosis was carried out using a multigene epilepsy panel. Methods We retrospectively screened familial and isolated cases of SHE in current follow-ups in our center. Results We included 8 (5F/3M) patients, 5 of whom had a positive familial history of epilepsy. We identified a pathogenic mutation in CHRNA4, CHRNB2, and 3 different pathogenic changes in DEPDC5. Conclusions Awareness of SHE needs to be raised, given its implications for finding an appropriate treatment, its relationship to cognitive and psychiatric comorbidities, and the opportunity to prevent the disorder in the descendants. We present our series with their clinical, radiological, electroencephalographic, and genetic characteristics, in which we found 3 pathogenic mutations in the DEPDC5 gene but not previously reported in the literature. Identifying new pathogenic mutations or new genes responsible for SHE will facilitate a better understanding of the disease and a correct genetic counseling.

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Córdova-Palomera, A., M. Fatjó-Vilas, H. Palma-Gudiel, H. Blasco-Fontecilla, O. Kebir, and L. Fañanás. "Further Evidence of Depdc7 Dna Hypomethylation in Depression: a Study in Adult Twins." European Psychiatry 30, no. 6 (May 4, 2015): 715–18. http://dx.doi.org/10.1016/j.eurpsy.2015.04.001.

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AbstractLate and early stressful factors have widely been recognized to play a role in the aetiology of depression. Recent research indicates that such adverse environmental stimuli may alter gene expression in humans via epigenetic modifications. While epigenetic changes such as DNA methylation are likely involved in these processes, it is still unknown what specific genomic loci may be hyper- or hypo-methylated in depression. The association between depressive symptoms during the last 30 days (Brief Symptom Inventory [BSI]) and peripheral-blood DNA methylation levels at genomic loci previously reported as epigenetically altered in saliva and brain of depressive patients was evaluated in a community sample of 34 adult Caucasian MZ twins (17 pairs). Intrapair DNA methylation differences in an intron of DEPDC7 (chr11:33040743) were associated with intrapair differences in current depressive symptoms. Accordingly, a site-specific 10% DNA hypomethylation in a co-twin would correlate with a current depressive symptom score around 3.1 BSI points above the score of his/her less-depressed co-twin. These findings indicate that DEPDC7 hypomethylation in peripheral blood DNA may be associated with recent depressive symptomatology, in line with previous results.

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50

Anderson, Matthew P. "DEPDC5 takes a second hit in familial focal epilepsy." Journal of Clinical Investigation 128, no. 6 (April 30, 2018): 2194–96. http://dx.doi.org/10.1172/jci121052.

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