Dysregulation of innate immune signaling in animal models of Spinal Muscular Atrophy.

ABSTRACT:

Background

Spinal Muscular Atrophy (SMA) is a devastating neuromuscular disease caused by hypomorphic loss of function in the Survival Motor Neuron (SMN) protein. SMA presents across broad spectrum of disease severity. Unfortunately, vertebrate models of intermediate SMA have been difficult to generate and are thus unable to address key aspects of disease etiology. To address these issues, we developed a Drosophila model system that recapitulates the full range of SMA severity, allowing studies of pre-onset biology as well as late-stage disease processes.

Results

Here, we carried out transcriptomic and proteomic profiling of mild and intermediate Drosophila models of SMA to elucidate molecules and pathways that contribute to the disease. Using this approach, we

SUBMITTER: Garcia EL 

PROVIDER: S-EPMC10760185 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature