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ProteomicsALS-Associated KIF5A Mutations Abolish Autoinhibition Resulting in a Toxic Gain of Function
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 sequenc...
ORGANISM(S): Homo sapiens (Human) 
2022-06-09 | PXD031012 | Pride
Human Kif5a Interactors Als 
GenomicsProfiling Kif5A RNA targets in sensory neuron axons
Profiling Kif5A RNA targets in sensory neuron axons
PRJNA595899 | ENA
GenomicsKIF5A downregulation in spinal muscular atrophy links axonal regeneration defects with ALS
KIF5A downregulation in spinal muscular atrophy links axonal regeneration defects with ALS
PRJNA1292146 | ENA
TranscriptomicsKIF5A downregulation in spinal muscular atrophy links axonal regeneration defects with ALS
Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder caused by mutations in the Survival Motor Neuron 1 (SMN1) gene, leading to decreased SMN levels and motor neuron dysfunction. SMN-restoring therapies offer clinical benefit, but the downstream molecular consequences of SMN reducti...
ORGANISM(S): Homo sapiens 
2026-03-11 | GSE302774 | GEO
TranscriptomicsProfiling Kif5A RNA targets in sensory neuron axons
We previously identified that the RNA binding protein Nucleolin is localized to axons of DRG sensory neurons by interaction with the molecular motor Kinesin-1 (Kif5A) and subsequently localizes importin beta1 mRNA there (Perry et al., 2016). To further identify additional RNAs that are localized to ...
ORGANISM(S): Mus musculus 
2021-07-23 | GSE142099 | GEO
GenomicsALS-Associated KIF5A Mutations Abolish Autoinhibition Resulting in a Toxic Gain of Function [RIP-seq]
ALS-Associated KIF5A Mutations Abolish Autoinhibition Resulting in a Toxic Gain of Function [RIP-seq]
PRJNA805281 | ENA
UnknownAxonal transport deficit in a KIF5A( -/- ) mouse model.
Not available
S-EPMC3332386 | biostudies-literature
UnknownErgotamine Targets KIF5A to Facilitate Anoikis in Lung Adenocarcinoma.
Not available
S-EPMC11549061 | biostudies-literature
TranscriptomicsALS-Associated KIF5A Mutations Abolish Autoinhibition Resulting in a Toxic Gain of Function [RIP-seq]
Purpose: The goal of this study is to identify and compare the mRNA interactomes of WT and ALS-related mutant (d27) KIF5A Methods: RNA samples were extracted and sequenced on an Illumina NovaSeq6000 instrument at the Yale Center for Genome Analysis. The sample sequence quality control check was perf...
ORGANISM(S): Homo sapiens 
2022-02-17 | GSE196538 | GEO
UnknownHot-spot KIF5A mutations cause familial ALS.
Not available
S-EPMC5837483 | biostudies-literature
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