Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease whose exact disease pathogenesis is not yet fully understood. We performed a genetic in-depth analysis of ataxin-2 (ATXN2), a gene that has already been described as a modulator of neurodegenerative diseases. We focused on the influ...
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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
19 July 2025
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| In: |
Acta Neuropathologica Communications
Year: 2025, Jahrgang: 13, Pages: 1-22 |
| ISSN: | 2051-5960 |
| DOI: | 10.1186/s40478-025-02074-0 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1186/s40478-025-02074-0
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| Verfasserangaben: | Marilena Lauerer, Jennifer Faber, Nicolas Casadei, Magda M. Santana, Georg Auburger, Michaela Pogoda, Jakob Admard, Lea Kaupp, Patricia Laura Kos, Mafalda Raposo, Manuela Lima, Luis Pereira de Almeida, Hector Garcia-Moreno, Paola Giunti, Jeroen de Vries, Bart P. van de Warrenburg, Judith van Gaalen, Marcus Grobe-Einsler, Berkan Koyak, Kathrin Reetz, Friedrich Erdlenbruch, Heike Jacobi, Jon Infante, Holger Hengel, Ludger Schöls, Thomas Klockgether, Olaf Rieß, Jeannette Hübener-Schmid and ESMI study group |
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| 245 | 1 | 0 | |a Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis |c Marilena Lauerer, Jennifer Faber, Nicolas Casadei, Magda M. Santana, Georg Auburger, Michaela Pogoda, Jakob Admard, Lea Kaupp, Patricia Laura Kos, Mafalda Raposo, Manuela Lima, Luis Pereira de Almeida, Hector Garcia-Moreno, Paola Giunti, Jeroen de Vries, Bart P. van de Warrenburg, Judith van Gaalen, Marcus Grobe-Einsler, Berkan Koyak, Kathrin Reetz, Friedrich Erdlenbruch, Heike Jacobi, Jon Infante, Holger Hengel, Ludger Schöls, Thomas Klockgether, Olaf Rieß, Jeannette Hübener-Schmid and ESMI study group |
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| 520 | |a Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease whose exact disease pathogenesis is not yet fully understood. We performed a genetic in-depth analysis of ataxin-2 (ATXN2), a gene that has already been described as a modulator of neurodegenerative diseases. We focused on the influence of an intermediate CAG repeat, a 9bp duplication (9bp), and isoform expression of ATXN2 on the pathogenesis of SCA3. | ||
| 650 | 4 | |a ATXN2 | |
| 650 | 4 | |a Gene modifier | |
| 650 | 4 | |a Genotype-phenotype correlation | |
| 650 | 4 | |a MJD | |
| 650 | 4 | |a SCA3 | |
| 700 | 1 | |a Faber, Jennifer |e VerfasserIn |4 aut | |
| 700 | 1 | |a Casadei, Nicolas |e VerfasserIn |4 aut | |
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| 700 | 1 | |a Auburger, Georg |e VerfasserIn |4 aut | |
| 700 | 1 | |a Pogoda, Michaela |e VerfasserIn |4 aut | |
| 700 | 1 | |a Admard, Jakob |e VerfasserIn |4 aut | |
| 700 | 1 | |a Kaupp, Lea |e VerfasserIn |4 aut | |
| 700 | 1 | |a Kos, Patricia Laura |e VerfasserIn |4 aut | |
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| 700 | 1 | |a Lima, Manuela |e VerfasserIn |4 aut | |
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| 700 | 1 | |a Reetz, Kathrin |e VerfasserIn |4 aut | |
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| 700 | 1 | |a Schöls, Ludger |e VerfasserIn |4 aut | |
| 700 | 1 | |a Klockgether, Thomas |e VerfasserIn |4 aut | |
| 700 | 1 | |a Rieß, Olaf |e VerfasserIn |4 aut | |
| 700 | 1 | |a Hübener-Schmid, Jeannette |e VerfasserIn |4 aut | |
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