Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive HF-X, nanoACQUITY UPLC
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Cell Culture
DISEASE(S): Amyotrophic Lateral Sclerosis
SUBMITTER: Desiree Baron
LAB HEAD: John Edward Landers
PROVIDER: PXD031012 | Pride | 2022-06-09
REPOSITORIES: Pride
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20200513Desiree_27EU.msf | Msf | |||
20200513Desiree_27EU.mzid.gz | Mzid | |||
20200513Desiree_27EU.mzid_20200513Desiree_27EU.MGF | Mzid | |||
20200513Desiree_27EU.raw | Raw | |||
20200513Desiree_Wt.msf | Msf |
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Baron Desiree M DM Fenton Adam R AR Saez-Atienzar Sara S Giampetruzzi Anthony A Sreeram Aparna A Shankaracharya Keagle Pamela J PJ Doocy Victoria R VR Smith Nathan J NJ Danielson Eric W EW Andresano Megan M McCormack Mary C MC Garcia Jaqueline J Bercier Valérie V Van Den Bosch Ludo L Brent Jonathan R JR Fallini Claudia C Traynor Bryan J BJ Holzbaur Erika L F ELF Landers John E JE
Cell reports 20220401 1
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 (KIF5A<sup>ΔExon27</sup>) 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 mislocalization, altered axonal transport, and decreased neuronal survival. Si ...[more]