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Autor:
Jesse Mez, Scott M. Katzen, Peter R. Mouton, Akira Kakizuka, Noam Kurtis, Lea Ben-Haïem, Veronica Colomer, Neal G. Copeland, Christopher A. Ross, Jennifer Kiluk, Nancy A. Jenkins, Alan H. Sharp, Daniel Goti
Machado-Joseph disease (MJD) is an inherited neurodegenerative disorder caused by ataxin-3 with a polyglutamine expansion. It is proposed that a toxic cleavage fragment of mutant ataxin-3 alternatively spliced isoform mjd1a triggers neurodegeneration
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02e4a304f2d2560f3d8d9ea8ac0c1b8d
https://europepmc.org/articles/PMC6730179/
https://europepmc.org/articles/PMC6730179/
