| Mutant KRAS-activated circATXN7 fosters tumor immunoescape by sensitizing tumor-specific T cells to activation-induced cell death. | Mutant KRAS-activated circATXN7 fosters tumor immunoescape by sensitizing tumor-specific T cells to activation-induced cell death.
Zhou C, Li W, Liang Z, Wu X, Cheng S, Peng J, Zeng K, Li W, Lan P, Yang X, Xiong L, Zeng Z, Zheng X, Huang L, Fan W, Liu Z, Xing Y, Kang L, Liu H., Free PMC Article | 02/6/2024 |
| Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7. | Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7.
Zou X, Yao F, Li F, Wu S, Li H, Sun Z, Zhu T, Wei X, Li D, Sui R., Free PMC Article | 12/11/2021 |
| Polyglutamine expanded Ataxin-7 induces DNA damage and alters FUS localization and function. | Polyglutamine expanded Ataxin-7 induces DNA damage and alters FUS localization and function.
Niss F, Zaidi W, Hallberg E, Ström AL. | 10/16/2021 |
| Deciphering the natural history of SCA7 in children. | Deciphering the natural history of SCA7 in children.
Bah MG, Rodriguez D, Cazeneuve C, Mochel F, Devos D, Suppiej A, Roubertie A, Meunier I, Gitiaux C, Curie A, Klapczynski F, Allani-Essid N, Carneiro M, Van Minkelen R, Kievit A, Fluss J, Leheup B, Ratbi L, Héron D, Gras D, Do Cao J, Pichard S, Strubi-Villaume I, Audo I, Lesca G, Charles P, Dubois F, Comet-Didierjean P, Capri Y, Barondiot C, Barathon M, Ewenczyk C, Durr A, Mignot C. | 06/26/2021 |
| Structural and dynamic studies reveal that the Ala-rich region of ataxin-7 initiates alpha-helix formation of the polyQ tract but suppresses its aggregation. | Structural and dynamic studies reveal that the Ala-rich region of ataxin-7 initiates α-helix formation of the polyQ tract but suppresses its aggregation.
Hong JY, Wang DD, Xue W, Yue HW, Yang H, Jiang LL, Wang WN, Hu HY., Free PMC Article | 10/24/2020 |
| the SUMO pathway contributes to the clearance of aggregated ATXN7 and suggest that its deregulation might be associated with SCA7 disease progression. | SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models.
Marinello M, Werner A, Giannone M, Tahiri K, Alves S, Tesson C, den Dunnen W, Seeler JS, Brice A, Sittler A., Free PMC Article | 08/3/2019 |
| Genetic testing showed the presence of 48 CAG repeats within one ATXN7 gene for spinocerebellar ataxia type 7 (SCA7). | Spinocerebellar Ataxia.
Wentz S, Jusufbegovic D. | 05/26/2018 |
| we observed that carriers of either ATXN7 or TBP alleles with relatively large CAG repeat sizes in both alleles had a substantially increased risk of lifetime depression. | Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression.
Gardiner SL, van Belzen MJ, Boogaard MW, van Roon-Mom WMC, Rozing MP, van Hemert AM, Smit JH, Beekman ATF, van Grootheest G, Schoevers RA, Oude Voshaar RC, Comijs HC, Penninx BWJH, van der Mast RC, Roos RAC, Aziz NA., Free PMC Article | 04/7/2018 |
| The intronic SNP rs6798742 is associated with ATXN7 CAG-region expansion. | A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion Loci in the Indian and Mexican Population.
Faruq M, Magaña JJ, Suroliya V, Narang A, Murillo-Melo NM, Hernández-Hernández O, Srivastava AK, Mukerji M. | 01/13/2018 |
| Results identified a chromosomal translocation between Rad51C and Ataxin-7 in colorectal tumors. The in-frame fusion transcript results in a fusion protein with molecular weight of 110 KDa. In vitro 5-Azacytidine treatment of colorectal tumor cells showed expression of the fusion gene is regulated by promoter methylation. | Rad51C-ATXN7 fusion gene expression in colorectal tumors.
Kalvala A, Gao L, Aguila B, Dotts K, Rahman M, Nana-Sinkam SP, Zhou X, Wang QE, Amann J, Otterson GA, Villalona-Calero MA, Duan W., Free PMC Article | 07/29/2017 |
| ATXN7 may be a potential predictor of post-operative prognosis of Hepatitis B Virus-related hepatocellular carcinoma . | ATXN7 Gene Variants and Expression Predict Post-Operative Clinical Outcomes in Hepatitis B Virus-Related Hepatocellular Carcinoma.
Han C, Yu L, Liu X, Yu T, Qin W, Liao X, Liu Z, Lu S, Chen Z, Su H, Zhu G, Qin X, Gui Y, Li J, Xiao K, Chen X, Ye X, Peng M, Dong J, Peng T. | 02/18/2017 |
| South American cohort did not confirm the effect of the four candidate loci as modifier of onset age: mithocondrial A10398G polymorphism and CAGn at RAI1, CACNA1A, ATXN3, and ATXN7 genes | ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America.
Pereira FS, Monte TL, Locks-Coelho LD, Silva AS, Barsottini O, Pedroso JL, Cornejo-Olivas M, Mazzetti P, Godeiro C, Vargas FR, Lima MA, van der Linden H Jr, Toralles MB, Medeiros PF, Ribeiro E, Braga-Neto P, Salarini D, Castilhos RM, Saraiva-Pereira ML, Jardim LB, Rede Neurogenetica. | 08/20/2016 |
| Our study provided the clinico-genetic analysis of nine Indian SCA7 families and CAG repeat distribution analysis in diverse Indian populations showed occurrence of ATXN7-CAG intermediate alleles in a predisposed population | Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population.
Faruq M, Srivastava AK, Singh S, Gupta R, Dada T, Garg A, Behari M, Mukerji M., Free PMC Article | 02/13/2016 |
| Data show that the aggregates formed by polyQ-expanded ataxin 7 sequester ubiquitin-specific protease (USP22) through specific interactions. | Aggregation of Polyglutamine-expanded Ataxin 7 Protein Specifically Sequesters Ubiquitin-specific Protease 22 and Deteriorates Its Deubiquitinating Function in the Spt-Ada-Gcn5-Acetyltransferase (SAGA) Complex.
Yang H, Liu S, He WT, Zhao J, Jiang LL, Hu HY., Free PMC Article | 01/16/2016 |
| Two pathological polyglutamine proteins, truncated Ataxin-7 and full-length Ataxin-3, suggest that accumulation of insoluble aggregates beyond a critical threshold could be responsible for neurotoxicity. | Quantification of Ataxin-3 and Ataxin-7 aggregates formed in vivo in Drosophila reveals a threshold of aggregated polyglutamine proteins associated with cellular toxicity.
Vinatier G, Corsi JM, Mignotte B, Gaumer S. | 12/12/2015 |
| The proband exhibited a typical phenotype of SCA7, which includes cone dystrophy and spinocerebellar ataxia. | Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7.
Katagiri S, Hayashi T, Takeuchi T, Yamada H, Gekka T, Kawabe K, Kurita A, Tsuneoka H. | 07/25/2015 |
| Results suggest that sequestration of both enzymatic centers in SAGA upon ATXN7 poly(Q) expansion likely contributes to spinocerebellar ataxia type 7 development and progression. | Poly(Q) Expansions in ATXN7 Affect Solubility but Not Activity of the SAGA Deubiquitinating Module.
Lan X, Koutelou E, Schibler AC, Chen YC, Grant PA, Dent SY., Free PMC Article | 07/25/2015 |
| This study shown evidence in vivo, in the SCA7 KI mouse model, that progressive accumulation of mutant ataxin-7 impairs autophagy. | The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice.
Alves S, Cormier-Dequaire F, Marinello M, Marais T, Muriel MP, Beaumatin F, Charbonnier-Beaupel F, Tahiri K, Seilhean D, El Hachimi K, Ruberg M, Stevanin G, Barkats M, den Dunnen W, Priault M, Brice A, Durr A, Corvol JC, Sittler A. | 06/20/2015 |
| Epidemiological evidence of a SCA7 founder effect in a Mexican population with spinocerebellar ataxia. | Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect.
Magaña JJ, Tapia-Guerrero YS, Velázquez-Pérez L, Cerecedo-Zapata CM, Maldonado-Rodríguez M, Jano-Ito JS, Leyva-García N, González-Piña R, Martínez-Cruz E, Hernández-Hernández O, Cisneros B. | 04/4/2015 |
| analysis of the founder effect and ancestral origin of the spinocerebellar ataxia type 7 mutation in Mexican families | Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families.
García-Velázquez LE, Canizales-Quinteros S, Romero-Hidalgo S, Ochoa-Morales A, Martínez-Ruano L, Márquez-Luna C, Acuña-Alonzo V, Villarreal-Molina MT, Alonso-Vilatela ME, Yescas-Gómez P. | 09/13/2014 |
| Haplotype and phylogenetic analyses provide evidence showing that the relatively high frequency of SCA7 in Mexican population is the result of a founder mutation and that Mexican SCA7 carriers possess the Western European ancestry. | Origin of the spinocerebellar ataxia type 7 gene mutation in Mexican population.
Magaña JJ, Gómez R, Maldonado-Rodríguez M, Velázquez-Pérez L, Tapia-Guerrero YS, Cortés H, Leyva-García N, Hernández-Hernández O, Cisneros B. | 05/31/2014 |
| polyQ-expanded ataxin-7 directly bound the Gcn5 catalytic core of SAGA while in association with its regulatory proteins, Ada2 and Ada3. | Direct inhibition of Gcn5 protein catalytic activity by polyglutamine-expanded ataxin-7.
Burke TL, Miller JL, Grant PA., Free PMC Article | 02/8/2014 |
| The results demonstrated that a common genetic variant in the ataxia-causing gene ATXN7 influences cerebellar grey matter volume in healthy young adults. | Genetic variation in ataxia gene ATXN7 influences cerebellar grey matter volume in healthy adults.
van der Heijden CD, Rijpkema M, Arias-Vásquez A, Hakobjan M, Scheffer H, Fernandez G, Franke B, van de Warrenburg BP. | 12/7/2013 |
| Sequestration of the ponsin splice variant R85FL by the polyglutamine-expanded Atx7 in cell is mediated by the specific SH3C-PRR interaction, which is implicated in the pathogenesis of spinocerebellar ataxia 7. | Structural basis for recognition of the third SH3 domain of full-length R85 (R85FL)/ponsin by ataxin-7.
Jiang YJ, Zhou CJ, Zhou ZR, Wu M, Hu HY. | 11/16/2013 |
| role of ataxin-7 in differentiation of photoreceptors and cerebellar neurons | Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons.
Yanicostas C, Barbieri E, Hibi M, Brice A, Stevanin G, Soussi-Yanicostas N., Free PMC Article | 05/25/2013 |