Article

KIF5A downregulation in spinal muscular atrophy links axonal regeneration defects with ALS

2025-07-13

Abstract excerpt

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 reduction remain incompletely understood. Here, we demonstrate that SMN deficiency results in downregulation of KIF5A in hum...

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Literature Corpus work: b170fb0f-379d-55b8-8e46-27b218ec2eda
DOI: 10.1101/2025.07.11.664426

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