ALS-linked mutations tagged posts

New research explains how the protein TDP43 normally concentrates into droplets and how ALS-related mutations disrupt that, leading to them to form more problematic aggregates that afflict cells. Credit: Gül Zerze, Lehigh University

Structural biologists provide a new explanation for how ALS-associated genetic flaws interfere with the proper function and behavior of the protein TDP-43. In amyotrophic lateral sclerosis, aggregates of the protein TDP-43 are almost always found in afflicted neurons and glial cells. Meanwhile, about 50 ALS-linked mutations are known to affect a particular region of TDP-43. Yet scientists have never understood how those two associations connect...