Quantitative proteomic analysis of Survival Motor Neuron (SMN) missense mutants in Drosophila
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ABSTRACT: 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. In this study, TMT-based quantitative proteomic profiling was performed on mild and intermediate Drosophila models of SMA to elucidate proteins and pathways that contribute to the disease. Using this approach, we elaborated a role for the SMN complex in the regulation of innate immune signaling.
INSTRUMENT(S): Orbitrap Fusion Lumos
ORGANISM(S): Drosophila Melanogaster (fruit Fly)
TISSUE(S): Whole Body
SUBMITTER: Laura Herring
LAB HEAD: Greg Matera
PROVIDER: PXD046801 | Pride | 2024-04-11
REPOSITORIES: Pride
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