Article

Altered lysosomal biology impairs motor neuron survival via TFEB dysregulation in spinal muscular atrophy

2025-07-10

Abstract excerpt

Spinal muscular atrophy (SMA) is a devastating motor neuron disease, caused by recessive mutations or deletions of the SMN1 gene, representing the leading genetic cause of infant mortality. Available therapies, aimed at increasing SMN protein levels, can only partially halt motor neuron (MN) degeneration in a select number of patients, reinforcing the need for combinatorial treatments to improve clinical outcomes...

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Literature Corpus work: 4467a2d3-852d-5af0-94f1-7864e06fffa0
DOI: 10.1101/2025.07.07.663525

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