Article
ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.
Cell reports - 5 Apr 2022
Baron Desiree M, Fenton Adam R, Saez-Atienzar Sara, Giampetruzzi Anthony, Sreeram Aparna, Shankaracharya, Keagle Pamela J, Doocy Victoria R, Smith Nathan J, Danielson Eric W, Andresano Megan, McCormack Mary C, Garcia Jaqueline, Bercier Valérie, Van Den Bosch Ludo, Brent Jonathan R, Fallini Claudia, Traynor Bryan J, Holzbaur Erika L F, Landers John E
Abstract excerpt
Understanding the pathogenic mechanisms of disease mutations is critical to advancing treatments. ALS-associated mutations in the gene encoding the microtubule motor KIF5A result in skipping of exon 27 (KIF5AΔExon27) and the encoding of a protein with a novel 39 amino acid residue C-terminal sequence. Here, we report that expression of ALS-linked mutant KIF5A results in dysregulated motor activity, cellular...
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