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

ABSTRACT:

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 a subset of SMA patients and ameliorate defects in SMA disease models, but the functional connection between PLS3 and SMN is poorly understood.

Results

We provide immunohistochemical and biochemical evidence for large protein complexes localized in vertebrate motor neuron processes that contain PLS3, SMN, and members of the hnRNP F/H family of proteins. Using a Caeno

SUBMITTER: Walsh MB 

PROVIDER: S-EPMC7495824 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature