ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function

ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function

Summary: 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-termina...

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Bibliographic Details
Main Authors: Desiree M. Baron, Adam R. Fenton, Sara Saez-Atienzar, Anthony Giampetruzzi, Aparna Sreeram, Shankaracharya, Pamela J. Keagle, Victoria R. Doocy, Nathan J. Smith, Eric W. Danielson, Megan Andresano, Mary C. McCormack, Jaqueline Garcia, Valérie Bercier, Ludo Van Den Bosch, Jonathan R. Brent, Claudia Fallini, Bryan J. Traynor, Erika L.F. Holzbaur, John E. Landers
Format: Article
Language:English
Published: Elsevier 2022-04-01
Series:Cell Reports
Subjects:
CP: Neuroscience
Online Access:http://www.sciencedirect.com/science/article/pii/S2211124722003461

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http://www.sciencedirect.com/science/article/pii/S2211124722003461

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