Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
Anna Niewiadomska-Cimicka, Lorraine Fievet, Magdalena Surdyka, Ewelina Jesion, Céline Keime, Elisabeth Singer, Aurélie Eisenmann, Zaneta Kalinowska-Poska, Hoa Huu Phuc Nguyen, Agnieszka Fiszer, Maciej Figiel, Yvon Trottie. AAV-Mediated CAG-Targeting Selectively Reduces Polyglutamine-Expanded Protein and Attenuates Disease Phenotypes in a Spinocerebellar Ataxia Mouse Model. International journal of molecular sciences. vol 25. issue 8. 2024-04-27. PMID:38673939. |
we demonstrated that shrnas carrying various mismatches with the cag target sequence reduced the level of polyq-expanded atxn7 in the cerebellum, albeit with varying degrees of allele selectivity and safety profile. |
2024-04-27 |
2024-04-29 |
mouse |
Fatima Zahra Bouzid, Maria Mansouri, Chaikhy Abdelaziz, Nisrine Louhab, Sablonniere Bernard, Isabelle Strubi-Vuillaume, Kenza Dafir, Nisrine Aboussai. Spinocerebellar ataxia Type 7: clinical and genetic study of a new Moroccan family (case report). The Pan African medical journal. vol 38. 2021-05-25. PMID:33995769. |
the cag repeat expansion in the ataxin-7 gene (atxn7) causes spinocerebellar ataxia type 7 - a mutation that results in the degeneration of the brain stem cells, retina and cerebellum. |
2021-05-25 |
2023-08-13 |
Not clear |
Alice Karam, Yvon Trottie. Molecular Mechanisms and Therapeutic Strategies in Spinocerebellar Ataxia Type 7. Advances in experimental medicine and biology. vol 1049. 2018-07-09. PMID:29427104. |
polyq expansion in atxn7 confers toxic properties and leads to selective neuronal degeneration in the cerebellum, the brain stem and the retina. |
2018-07-09 |
2023-08-13 |
Not clear |
Sandro Alves, Thibaut Marais, Maria-Grazia Biferi, Denis Furling, Martina Marinello, Khalid El Hachimi, Nathalie Cartier, Merle Ruberg, Giovanni Stevanin, Alexis Brice, Martine Barkats, Annie Sittle. Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins. Molecular neurodegeneration. vol 11. issue 1. 2017-11-09. PMID:27465358. |
we used lentiviral vectors (lvs) to generate a new sca7 animal model overexpressing a truncated mutant ataxin-7 (mut atxn7) fragment in the mouse cerebellum, in order to characterize the specific neuropathological and behavioral consequences of the genetic defect in this brain structure. |
2017-11-09 |
2023-08-13 |
mouse |
Jonathan J Magaña, Yessica S Tapia-Guerrero, Luis Velázquez-Pérez, Tania Cruz-Mariño, Cesar M Cerecedo-Zapata, Rocío Gómez, Nadia M Murillo-Melo, Rigoberto González-Piña, Oscar Hernández-Hernández, Bulmaro Cisnero. Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report. International journal of clinical and experimental medicine. vol 7. issue 12. 2015-02-09. PMID:25664129. |
spinocerebellar ataxia type 7 (sca7) is a genetic disorder characterized by degeneration of the cerebellum, brainstem, and retina that is caused by abnormal expansion of a cag repeat located in the atxn7 gene encoding sequence on chromosome 3p21.1. |
2015-02-09 |
2023-08-13 |
Not clear |
Jennifer Y Tan, Keith W Vance, Miguel A Varela, Tamara Sirey, Lauren M Watson, Helen J Curtis, Martina Marinello, Sandro Alves, Bruno Steinkraus, Sarah Cooper, Tatyana Nesterova, Neil Brockdorff, Tudor Fulga, Alexis Brice, Annie Sittler, Peter L Oliver, Matthew J Wood, Chris P Ponting, Ana C Marque. Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7. Nature structural & molecular biology. vol 21. issue 11. 2015-01-06. PMID:25306109. |
specifically, in spinocerebellar ataxia type 7 (sca7), a neurodegenerative disorder caused by a cag-repeat expansion in atxn7 (which encodes an essential component of the mammalian transcription coactivation complex, staga), the factors underlying the characteristic progressive cerebellar and retinal degeneration in patients were unknown. |
2015-01-06 |
2023-08-13 |
mouse |
Charlotte D C C van der Heijden, Mark Rijpkema, Alejandro Arias-Vásquez, Marina Hakobjan, Hans Scheffer, Guillen Fernandez, Barbara Franke, Bart P van de Warrenbur. Genetic variation in ataxia gene ATXN7 influences cerebellar grey matter volume in healthy adults. Cerebellum (London, England). vol 12. issue 3. 2013-12-04. PMID:23100044. |
genetic variation in ataxia gene atxn7 influences cerebellar grey matter volume in healthy adults. |
2013-12-04 |
2023-08-12 |
human |
Charlotte D C C van der Heijden, Mark Rijpkema, Alejandro Arias-Vásquez, Marina Hakobjan, Hans Scheffer, Guillen Fernandez, Barbara Franke, Bart P van de Warrenbur. Genetic variation in ataxia gene ATXN7 influences cerebellar grey matter volume in healthy adults. Cerebellum (London, England). vol 12. issue 3. 2013-12-04. PMID:23100044. |
our results demonstrate that a common genetic variant in the ataxia-causing gene atxn7 influences cerebellar grey matter volume in healthy young adults. |
2013-12-04 |
2023-08-12 |
human |
Constantin Yanicostas, Elisa Barbieri, Masahiko Hibi, Alexis Brice, Giovanni Stevanin, Nadia Soussi-Yanicosta. Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons. PloS one. vol 7. issue 11. 2013-05-23. PMID:23226359. |
the specific requirement for zebrafish atxn7 in the proper differentiation of cerebellar neurons provides, to our knowledge, the first in vivo evidence of a direct functional relationship between atxn7 and the differentiation of purkinje and granule cells, the most crucial neurons affected in sca7 and most other polyq-mediated scas. |
2013-05-23 |
2023-08-12 |
human |
Shaun D McCullough, Xiaojiang Xu, Sharon Y R Dent, Stefan Bekiranov, Robert G Roeder, Patrick A Gran. Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes. Proceedings of the National Academy of Sciences of the United States of America. vol 109. issue 52. 2013-02-21. PMID:23236151. |
here we describe the development and use of a human astrocyte cell culture model to identify reelin, a factor intimately involved in the development and maintenance of purkinje cells and the cerebellum as a whole, as an atxn7 target gene. |
2013-02-21 |
2023-08-12 |
human |
Shaun D McCullough, Xiaojiang Xu, Sharon Y R Dent, Stefan Bekiranov, Robert G Roeder, Patrick A Gran. Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes. Proceedings of the National Academy of Sciences of the United States of America. vol 109. issue 52. 2013-02-21. PMID:23236151. |
remarkably, although mutant atxn7 is expressed throughout the body, pathology is restricted primarily to the cerebellum and retina. |
2013-02-21 |
2023-08-12 |
human |