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Methods Collections

Methods to study converging molecular pathways in ALS

Collection Overview

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that ultimately leads to fatal paralysis due to impaired neuromuscular function. At the cellular level, ALS is caused by motor neuron degeneration either intrinsically or through the contribution of toxic glial cells. About 10% of ALS cases are familial (fALS), and are associated with mutations in one or another of several genes, while the remaining are sporadic (sALS). fALS and sALS are clinically indistinguishable, suggesting that the different forms of the disease converge on common pathways. The molecular mechanisms contributing to the disease are beginning to be unraveled in recent years after the discovery of mutations in various genes including TDP-43, FUS, and C9ORF72

Various model systems (Human, Mouse, Drosophila and Zebrafish) and cell biological techniques have been utilized recently to investigate important converging pathways in ALS. These include altered neuronal excitability, nucleocytoplasmic transport defects, aberrant phase transitions of RNA binding proteins, pathological stress granule assembly/disassembly, autophagy defects, and DNA damage. In this method collection, we present novel cell biology, electrophysiology and biochemical techniques to study the above pathways in ALS. These protocols will provide a visual platform for researchers in the ALS community to adopt a unified scientific approach.

 


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