KEGG   VARIANT: 3798v2
Entry
3798v2                      Variant                                
Name
KIF5A gain-of-function mutation
Type
Gain of function
Gene
KIF5A  kinesin family member 5A [KO:K10396]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602821
Network
nt06541  Cytoskeleton in neurons
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Reference
  Authors
Baron DM, Fenton AR, Saez-Atienzar S, Giampetruzzi A, Sreeram A, Shankaracharya, Keagle PJ, Doocy VR, Smith NJ, Danielson EW, Andresano M, McCormack MC, Garcia J, Bercier V, Van Den Bosch L, Brent JR, Fallini C, Traynor BJ, Holzbaur ELF, Landers JE
  Title
ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.
  Journal
Cell Rep 39:110598 (2022)
DOI:10.1016/j.celrep.2022.110598
Reference
  Authors
Pant DC, Parameswaran J, Rao L, Loss I, Chilukuri G, Parlato R, Shi L, Glass JD, Bassell GJ, Koch P, Yilmaz R, Weishaupt JH, Gennerich A, Jiang J
  Title
ALS-linked KIF5A DeltaExon27 mutant causes neuronal toxicity through gain-of-function.
  Journal
EMBO Rep 23:e54234 (2022)
DOI:10.15252/embr.202154234
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