Article

Interferon-stimulated gene GBP1 protects SMN2 from degradation

2023-04-24

Abstract excerpt

Spinal muscular atrophy (SMA) is lethal autosomal recessive disease of muscle due to the pathogenic variations of the survival motor neuron 1 (SMN) encoding the motor neuron (SMN1, MIM#600354). The mutations of SMN result in insufficient full-length of SMN protein, which leads to muscle atrophy and even respiratory involvement. No effective treatments are currently available. The SMN2 gene is a regulator of the ph...

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Literature Corpus work: f1516662-d245-52ab-9fa4-4d98564d087a
DOI: 10.21203/rs.3.rs-2822819/v1

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