Mafalda Raposo, Jeannette Hübener-Schmid, Rebecca Tagett, Ana F Ferreira, Ana Rosa Vieira Melo, João Vasconcelos, Paula Pires, Teresa Kay, Hector Garcia-Moreno, Paola Giunti, Magda M Santana, Luis Pereira de Almeida, Jon Infante, Bart P van de Warrenburg, Jeroen J de Vries, Jennifer Faber, Thomas Klockgether, Nicolas Casadei, Jakob Admard, Ludger Schöls, Olaf Riess, Maria do Carmo Costa, Manuela Lima
Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD) is a heritable proteinopathy disorder, whose causative gene, ATXN3, undergoes alternative splicing. Ataxin-3 protein isoforms differ in their toxicity, suggesting that certain ATXN3 splice variants may be crucial in driving the selective toxicity in SCA3. Using RNA-seq datasets we identified and determined the abundance of annotated ATXN3 transcripts in blood (n = 60) and cerebellum (n = 12) of SCA3 subjects and controls...
February 27, 2024: Neurobiology of Disease