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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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Main Authors: Lauerer, Marilena (Author) , Faber, Jennifer (Author) , Casadei, Nicolas (Author) , Santana, Magda M. (Author) , Auburger, Georg (Author) , Pogoda, Michaela (Author) , Admard, Jakob (Author) , Kaupp, Lea (Author) , Kos, Patricia Laura (Author) , Raposo, Mafalda (Author) , Lima, Manuela (Author) , de Almeida, Luis Pereira (Author) , Garcia-Moreno, Hector (Author) , Giunti, Paola (Author) , de Vries, Jeroen (Author) , van de Warrenburg, Bart P. (Author) , van Gaalen, Judith (Author) , Grobe-Einsler, Marcus (Author) , Koyak, Berkan (Author) , Reetz, Kathrin (Author) , Erdlenbruch, Friedrich (Author) , Jacobi, Heike (Author) , Infante, Jon (Author) , Hengel, Holger (Author) , Schöls, Ludger (Author) , Klockgether, Thomas (Author) , Rieß, Olaf (Author) , Hübener-Schmid, Jeannette (Author)
Format: Article (Journal)
Language:English
Published: 19 July 2025
In: Acta Neuropathologica Communications
Year: 2025, Volume: 13, Pages: 1-22
ISSN:2051-5960
DOI:10.1186/s40478-025-02074-0
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1186/s40478-025-02074-0
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Author Notes: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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Summary: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.
Item Description:Veröffentlicht: 19. Juli 2025
Gesehen am 27.11.2025
Physical Description:Online Resource
ISSN:2051-5960
DOI:10.1186/s40478-025-02074-0

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