Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease
Mafalda Raposo, Jeannette Hübener‐Schmid, Rebecca Tagett, Ana F. Ferreira, Ana Rosa Vieira Melo, João Vasconcelos, Paula Pires, Teresa Taylor Kay, Héctor García‐Moreno, Paola Giunti, Magda M. Santana, Luís Pereira de Almeida, Jon Infante, Bart P.C. van de Warrenburg, Jeroen J. de Vries, , Manuela Caroline Ferreira Lima
The paper identifies and compares the abundance of ATXN3 splice variants in blood and cerebellum of SCA3/MJD patients and controls, finding tissue-specific expression patterns of full-length ataxin-3 isoforms.
bioRxiv · Apr 22, 2023 · PreprintGenetics