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Article

Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy

16 Sept 2020

Abstract excerpt

BACKGROUND: Understanding the genetic modifiers of neurodegenerative diseases can provide insight into the mechanisms underlying these disorders. Here, we examine the relationship between the motor neuron disease spinal muscular atrophy (SMA), which is caused by reduced levels of the survival of motor neuron (SMN) protein, and the actin-bundling protein Plastin 3 (PLS3). Increased PLS3 levels suppress symptoms in...

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PMID: 32938453
DOI: 10.1186/s12915-020-00845-w

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