| Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery. | Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery.
Wang H, Liu W, Zhang Y, Liu Q, Cai L, Jiang Y., Free PMC Article | 10/26/2023 |
| Risk signature identification and NPRL2 affects sunitinib sensitivity in clear cell renal cell carcinoma. | Risk signature identification and NPRL2 affects sunitinib sensitivity in clear cell renal cell carcinoma.
Du X, Zhao Z, Zhao X, Wang H, Jiang L, Tang W. | 05/23/2023 |
| NPRL2 down-regulation facilitates the growth of hepatocellular carcinoma via the mTOR pathway and autophagy suppression. | NPRL2 down-regulation facilitates the growth of hepatocellular carcinoma via the mTOR pathway and autophagy suppression.
Wang YC, Tsai MC, Chen YS, Hsieh PM, Hung CM, Lin HY, Hsu YC, Yeh JH, Hsiao P, Su YC, Ma CH, Lee CY, Lin CC, Shu CW, Li YC, Tsai MH, Lin JY, Peng WH, Yu ML, Lin CW., Free PMC Article | 12/3/2022 |
| Nitrogen Permease Regulator Like-2 (NPRL2 ) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations. | Nitrogen Permease Regulator Like-2 (NPRL2 ) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations.
Zhou X, Chen FY, Ye XG, Liu ZG. | 10/29/2022 |
| A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review. | A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.
Zhang J, Shen Y, Yang Z, Yang F, Li Y, Yu B, Chen W, Gan J., Free PMC Article | 04/2/2022 |
| FOXO1 inhibits prostate cancer cell proliferation via suppressing E2F1 activated NPRL2 expression. | FOXO1 inhibits prostate cancer cell proliferation via suppressing E2F1 activated NPRL2 expression.
Tang Y, Jiang L, Zhao X, Hu D, Zhao G, Luo S, Du X, Tang W. | 03/5/2022 |
| NPRL2 reduces the niraparib sensitivity of castration-resistant prostate cancer via interacting with UBE2M and enhancing neddylation. | NPRL2 reduces the niraparib sensitivity of castration-resistant prostate cancer via interacting with UBE2M and enhancing neddylation.
Zhao X, Jiang L, Hu D, Tang Y, Zhao G, Du X, Luo S, Tang W. | 09/25/2021 |
| NPRL2 promotes docetaxel chemoresistance in castration resistant prostate cancer cells by regulating autophagy through the mTOR pathway. | NPRL2 promotes docetaxel chemoresistance in castration resistant prostate cancer cells by regulating autophagy through the mTOR pathway.
Luo S, Shao L, Chen Z, Hu D, Jiang L, Tang W. | 12/12/2020 |
| these results demonstrate a new role for the NPRL2, distinct from its function in mTORC1 regulation. | Tumor suppressor NPRL2 induces ROS production and DNA damage response.
Ma Y, Silveri L, LaCava J, Dokudovskaya S., Free PMC Article | 07/6/2019 |
| Arg-78 of Nprl2 catalyzes GATOR1-stimulated GTP hydrolysis by the Rag GTPases. | Arg-78 of Nprl2 catalyzes GATOR1-stimulated GTP hydrolysis by the Rag GTPases.
Shen K, Valenstein ML, Gu X, Sabatini DM., Free PMC Article | 05/4/2019 |
| overall, 63 distinct variants were identified: 53 in DEPDC5, three in NPRL2 and seven in NPRL3 . Among these, 46 were novel (including 39 single nucleotide variants and seven CNVs) and 16 were newly defined as recurrent variants; 34 were loss-of-function (LoF) variants (nonsense, splice-site, frameshift indels and CNVs). | The landscape of epilepsy-related GATOR1 variants.
Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, Nordli DR Jr, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S., Free PMC Article | 04/20/2019 |
| The expression level of NPRL2 was significantly up-regulated in prostate cancer and its high expression was correlated with poor prognosis. | High expression of NPRL2 is linked to poor prognosis in patients with prostate cancer.
Chen Z, Luo S, Chen Y, Xie X, Du Z, Jiang L. | 04/13/2019 |
| The high levels of NPRL2 expression in castrate-resistant prostate cancer promote resistance to Everolimus by enhancing autophagy. | NPRL2 enhances autophagy and the resistance to Everolimus in castration-resistant prostate cancer.
Chen Z, Jiang Q, Zhu P, Chen Y, Xie X, Du Z, Jiang L, Tang W. | 04/13/2019 |
| NPRL2 overexpression enhances sensitivity to CPT-11 treatment in colon cancer cells. | Overexpression of Nitrogen Permease Regulator Like-2 (NPRL2) Enhances Sensitivity to Irinotecan (CPT-11) in Colon Cancer Cells by Activating the DNA Damage Checkpoint Pathway.
Liu S, Liu B., Free PMC Article | 09/8/2018 |
| We found no correlation between the DLEC1, TUSC4 and MLH1 gene expression and NSCLC patient characteristics (gender, age and smoking) or cancer histopathology. No significant differences in the gene expression among NSCLC subtypes indicate the weakness of DLEC1, TUSC4 and MLH1 expression analysis as potential differentiating markers of NSCLC subtypes in the Polish population. | Small suitability of the DLEC1, MLH1 and TUSC4 mRNA expression analysis as potential prognostic or differentiating markers for NSCLC patients in the Polish population.
Kordiak J, Czarnecka KH, Pastuszak-Lewandoska D, Antczak A, Migdalska-Sęk M, Nawrot E, Domańska-Senderowska D, Kiszałkiewicz J, Brzeziańska-Lasota E. | 04/7/2018 |
| This study demonstrated that NPRL2 mutation in familial focal epilepsies and focal cortical dysplasia. | Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
Weckhuysen S, Marsan E, Lambrecq V, Marchal C, Morin-Brureau M, An-Gourfinkel I, Baulac M, Fohlen M, Kallay Zetchi C, Seeck M, de la Grange P, Dermaut B, Meurs A, Thomas P, Chassoux F, Leguern E, Picard F, Baulac S. | 06/3/2017 |
| Data confirmed NPRL2 was downregulated in gliomas. More importantly, NPRL2 was able to inhibit cell proliferation in vitro and repress tumorigenicity in vivo, suggesting its role as a tumor suppressor. | Downregulation of nitrogen permease regulator like-2 activates PDK1-AKT1 and contributes to the malignant growth of glioma cells.
Huang N, Cheng S, Mi X, Tian Q, Huang Q, Wang F, Xu Z, Xie Z, Chen J, Cheng Y. | 05/20/2017 |
| The positive regulation of mTORC1 activity by NPRL2 is mediated through NPRL2 interaction with Raptor. | Amino acid-dependent NPRL2 interaction with Raptor determines mTOR Complex 1 activation.
Kwak SS, Kang KH, Kim S, Lee S, Lee JH, Kim JW, Byun B, Meadows GG, Joe CO. | 12/17/2016 |
| NPRL2 mutations are significant cause of focal epilepsy. | Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Ricos MG, Hodgson BL, Pippucci T, Saidin A, Ong YS, Heron SE, Licchetta L, Bisulli F, Bayly MA, Hughes J, Baldassari S, Palombo F, Epilepsy Electroclinical Study Group, Santucci M, Meletti S, Berkovic SF, Rubboli G, Thomas PQ, Scheffer IE, Tinuper P, Geoghegan J, Schreiber AW, Dibbens LM. | 06/28/2016 |
| NPRL2 enhances sensitivity to oxaliplatin in colon cancer cells. | Nitrogen permease regulator-like 2 enhances sensitivity to oxaliplatin in colon cancer cells.
Liu MN, Liu AY, Du YJ, Pei FH, Wang XH, Chen J, Liu D, Liu BR. | 01/16/2016 |
| Decreased expression of NPRL2 is associated with renal cancer. | Decreased expression of NPRL2 in renal cancer cells is associated with unfavourable pathological, proliferation and apoptotic features.
Tang Y, Jiang L, Tang W. | 07/25/2015 |
| NPRL2 mRNA blood levels could be a potentially useful marker for the detection of early stage adenomas and colorectal cancers. | Relationship between tumor and peripheral blood NPRL2 mRNA levels in patients with colorectal adenoma and colorectal cancer.
Liu AY, Liu DG, Du YJ, Pei FH, Yang G, Liu BR, Zhang HT, Wang XH, Fan YJ, Chen YZ, Jiang Y, Chen J., Free PMC Article | 04/18/2015 |
| Results provide a set of genetic and biologic proofs that TUSC4 functions as a bona fide tumor suppressor by regulating the protein stability and function of BRCA1 in breast cancer. | TUSC4 functions as a tumor suppressor by regulating BRCA1 stability.
Peng Y, Dai H, Wang E, Lin CC, Mo W, Peng G, Lin SY., Free PMC Article | 04/4/2015 |
| NPRL2 expression is negatively related with the survival of osteosarcoma patients, indicating its value as a prognosis factor of osteosarcoma. | NPRL2 is an independent prognostic factor of osteosarcoma.
Gao Y, Wang J, Fan G. | 07/13/2013 |
| Lower NPRL2 expression was observed significantly more frequently in poorly differentiated tumor samples than in highly or moderately differentiated colon tumors. | NPRL2 gene expression in the progression of colon tumors.
Yogurtcu B, Hatemi I, Aydin I, Buyru N. | 07/13/2013 |