Article

Impact of liver-specific survival motor neuron (SMN) depletion on central nervous system and peripheral tissue pathology

2024-05-22

Abstract excerpt

Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder stemming from deletions or mutations in the Survival Motor Neuron 1 ( SMN1 ) gene, leading to decreased levels of SMN protein, and subsequent motor neuron death and muscle atrophy. While traditionally viewed as a disorder predominantly affecting motor neurons, recent research suggests the involvement of various peripheral organs in SMA pathology...

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Literature Corpus work: 66f4509b-9407-5f32-aef8-c55cfd60a2ca
DOI: 10.1101/2024.05.20.595016

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