Dominant spinal muscular atrophy linked mutations in the cargo binding domain of BICD2 result in altered interactomes and dynein hyperactivity.

Summary: Imagine your cells are like a busy city, and proteins are the delivery trucks carrying important packages. A protein called BICD2 acts like a steering wheel for these trucks. But in a nerve and muscle disease called SMALED2, a spelling mistake in the BICD2 instructions makes the delivery trucks go into overdrive. Not only do they drive too fast, but they also drop off the right packages (like the HOPS complex) and pick up the wrong ones (like GRAMD1A), delivering them to the wrong places! Scientists have now mapped out exactly which packages get lost and which ones get taken by mistake. This helps us understand why the nerve cells get sick and could eventually lead to new ways to fix the cellular delivery system.