KIF5A downregulation in spinal muscular atrophy links axonal regeneration defects with ALS - PubMed
5 hours ago
- #amyotrophic lateral sclerosis
- #KIF5A downregulation
- #spinal muscular atrophy
- SMA is a neuromuscular disorder caused by SMN1 gene mutations leading to low SMN protein and motor neuron issues.
- SMN-deficiency reduces KIF5A levels in human neurons and SMA mouse models, with SMN stabilizing KIF5A mRNA.
- Impaired axon regeneration due to SMN reduction can be rescued by KIF5A overexpression.
- KIF5A connects SMA with ALS pathophysiology, offering a molecular link between the diseases.
- Targeting KIF5A may provide SMN-independent therapies for SMA and other motor neuron diseases.