npc2-Deficient Zebrafish Reproduce Neurological and Inflammatory Symptoms of Niemann-Pick Type C Disease

Abstract excerpt

Niemann-Pick type C (NPC) disease is an autosomal recessive lysosomal storage disease that is caused by a mutation of theNPC1orNPC2gene, in which un-esterified cholesterol and sphingolipids accumulate mainly in the liver, spleen, and brain. Abnormal lysosomal storage leads to cell damage, neurological problems, and premature death. The time of onset and severity of symptoms of NPC disease are highly variable. The...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Autoimmune and Inflammatory Disorders Research
• Share to Calcium signaling and nucleotide metabolism
• Share to Lysosomal Storage Disorders Research