| Mutations of TOPORS identified in families with retinitis pigmentosa. | Mutations of TOPORS identified in families with retinitis pigmentosa.
He K, Zhou Y, Li N. | 06/25/2022 |
| Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867. | Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867.
Wang J, Wang Y, Jiang Y, Li X, Xiao X, Li S, Jia X, Sun W, Wang P, Zhang Q., Free PMC Article | 05/28/2022 |
| A novel mutation of the TOPORS gene was identified, c.2539C>T p.(Arg847Ter), resulting in a premature termination codon and suggesting haploinsufficiency as the pathological mechanism. | A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa.
Latasiewicz M, Salvetti AP, MacLaren RE. | 12/2/2017 |
| P26s4 Associates with the C-Terminal Region of TOPORS. | TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene.
Czub B, Shah AZ, Alfano G, Kruczek PM, Chakarova CF, Bhattacharya SS., Free PMC Article | 07/30/2016 |
| Data suggest that TOPORS plays key role in turnover of H2AX (H2A histone family, member X protein) depending on the type of oxidative stress/DNA damage; TOPORS may act as an E3 ubiquitin ligase for histones. | TOPORS modulates H2AX discriminating genotoxic stresses.
Seong KM, Nam SY, Kim JY, Yang KH, An S, Jin YW, Kim CS. | 05/4/2013 |
| Disturbed flow induces peroxynitrite production and binding to the E3 SUMO (small ubiquitin-like modifier) ligase PIASy (protein inhibitor of activated STATy). | Disturbed flow: p53 SUMOylation in the turnover of endothelial cells.
Takabe W, Alberts-Grill N, Jo H., Free PMC Article | 09/3/2011 |
| In photoreceptors, TOPORS localizes primarily to the basal bodies of connecting cilium and in the centrosomes. | TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.
Chakarova CF, Khanna H, Shah AZ, Patil SB, Sedmak T, Murga-Zamalloa CA, Papaioannou MG, Nagel-Wolfrum K, Lopez I, Munro P, Cheetham M, Koenekoop RK, Rios RM, Matter K, Wolfrum U, Swaroop A, Bhattacharya SS., Free PMC Article | 05/28/2011 |
| Polo-like kinase 1 (Plk1)-associated phosphorylation of Topors at S718 is essential for nocodazole-induced degradation of Topors. | Plk1 phosphorylation of Topors is involved in its degradation.
Yang X, Li H, Deng A, Liu X., Free PMC Article | 10/30/2010 |
| We present a novel mutation in the TOPORS gene co-segregating with a distinct phenotype of adPRD in a large Norwegian family. | Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene.
Selmer KK, Grøndahl J, Riise R, Brandal K, Braaten O, Bragadottir R, Undlien DE. | 08/9/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Plk1 modulates Topors activity in suppressing p53 function | Plk1-mediated phosphorylation of Topors regulates p53 stability.
Yang X, Li H, Zhou Z, Wang WH, Deng A, Andrisani O, Liu X., Free PMC Article | 01/21/2010 |
| Mutations in TOPORS cause autosomal dominant retinitis pigmentosa (adRP). | Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?
Schob C, Orth U, Gal A, Kindler S, Chakarova CF, Bhattacharya SS, Rüther K, Schob C, Orth U, Gal A, Kindler S, Chakarova CF, Bhattacharya SS, Rüther K. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?
Schob C, Orth U, Gal A, Kindler S, Chakarova CF, Bhattacharya SS, Rüther K, Schob C, Orth U, Gal A, Kindler S, Chakarova CF, Bhattacharya SS, Rüther K. | 04/29/2009 |
| Point mutations and small insertions or deletions in TOPORS cause approximately 1% of autosomal dominant retinitis pigmentosa. | Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.
Bowne SJ, Sullivan LS, Gire AI, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP., Free PMC Article | 01/21/2010 |
| NKX3.1 can be ubiquitinated by TOPORS in vitro and in vivo, and overexpression of TOPORS leads to NKX3.1 proteasomal degradation in prostate cancer cells | Ubiquitination by TOPORS regulates the prostate tumor suppressor NKX3.1.
Guan B, Pungaliya P, Li X, Uquillas C, Mutton LN, Rubin EH, Bieberich CJ. | 01/21/2010 |
| Topors enhances the formation of high-molecular weight SUMO-1 conjugates of TOP1 in a reconstituted in vitro system and also in human osteosarcoma cells | The E3 ligase Topors induces the accumulation of polysumoylated forms of DNA topoisomerase I in vitro and in vivo.
Hammer E, Heilbronn R, Weger S. | 01/21/2010 |
| Mutations in the gene for topoisomerase I-binding RS protein (TOPORS) in patients with autosomal dominant retinitis pigmentosa (adRP) linked to chromosome 9p21.1 (locus RP31), is reported. | Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.
Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, Munro PM, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS., Free PMC Article | 01/21/2010 |
| The findings suggest that TOPORS may function as a tumor suppressor by regulating mSin3A and other proteins involved in chromatin modification. | TOPORS functions as a SUMO-1 E3 ligase for chromatin-modifying proteins.
Pungaliya P, Kulkarni D, Park HJ, Marshall H, Zheng H, Lackland H, Saleem A, Rubin EH. | 01/21/2010 |
| Multiple SUMO-1 modified forms of Topors could be detected after cotransfection of exogenous SUMO-1 and Topors induced the colocalization of a YFP tagged SUMO-1 protein in a speckled pattern in the nucleus. | The DNA topoisomerase I binding protein topors as a novel cellular target for SUMO-1 modification: characterization of domains necessary for subcellular localization and sumolation.
Weger S, Hammer E, Engstler M. | 01/21/2010 |
| topors functions as a negative regulator of cell growth, and possibly as a tumor suppressor | The topoisomerase I- and p53-binding protein topors is differentially expressed in normal and malignant human tissues and may function as a tumor suppressor.
Saleem A, Dutta J, Malegaonkar D, Rasheed F, Rasheed Z, Rajendra R, Marshall H, Luo M, Li H, Rubin EH. | 01/21/2010 |
| topors localizes in punctate nuclear regions associated with PML protein nuclear bodies. | The topoisomerase I-binding RING protein, topors, is associated with promyelocytic leukemia nuclear bodies.
Rasheed ZA, Saleem A, Ravee Y, Pandolfi PP, Rubin EH. | 01/21/2010 |
| Data show that Topors enhances the conjugation of the small ubiquitin-like modifier 1 (SUMO-1) to p53 in vivo and in a reconstituted in vitro system. | Topors acts as a SUMO-1 E3 ligase for p53 in vitro and in vivo.
Weger S, Hammer E, Heilbronn R. | 01/21/2010 |
| Results show that the ATR/checkpoint kinase 1 pathway plays a predominant role in the response to topoisomerase I inhibitors in carcinoma cells. | The role of checkpoint kinase 1 in sensitivity to topoisomerase I poisons.
Flatten K, Dai NT, Vroman BT, Loegering D, Erlichman C, Karnitz LM, Kaufmann SH. | 01/21/2010 |
| topors has a role as an E3 ubiquitin ligase with specific E2 enzymes and ubiquitinates p53 | Topors functions as an E3 ubiquitin ligase with specific E2 enzymes and ubiquitinates p53.
Rajendra R, Malegaonkar D, Pungaliya P, Marshall H, Rasheed Z, Brownell J, Liu LF, Lutzker S, Saleem A, Rubin EH. | 01/21/2010 |
| Topors, a p53 and topoisomerase I binding protein, interacts with the adeno-associated virus (AAV-2) Rep78/68 proteins and enhances AAV-2 gene expression | Topors, a p53 and topoisomerase I binding protein, interacts with the adeno-associated virus (AAV-2) Rep78/68 proteins and enhances AAV-2 gene expression.
Weger S, Hammer E, Heilbronn R. | 01/21/2010 |