When a 17-year-old Minnesota boy got sick with a mysterious illness, his mom went on a quest for answers. Connor Martin, of ...

Background: Niemann-Pick type C (NPC) disease is a rare inborn error of metabolism caused by defective intracellular cholesterol traffic. Recently, substrate ...

The NPC plays a crucial role in cellular function, and its dysfunction has been linked to numerous diseases, including progressive brain diseases such as amyotrophic lateral sclerosis (ALS ...

Just as cities must carefully manage the flow of cars in and out of downtown, cells regulate the movement of molecules into and out of the nucleus.

Today, we are honored to stand united with the NPC and broader rare disease community and reaffirm our commitment to raising awareness of remaining unmet need and championing the work ahead.” ...