Therapeutic Breakthroughs in Niemann-Pick Type C Disease

добавлена новая статья Health

2025-06-17 09:02:41

Niemann-Pick Type C (NPC) is a rare, autosomal recessive lysosomal storage disorder marked by defective intracellular lipid trafficking. Characterized by progressive neurodegeneration, hepatosplenomegaly, and ataxia, NPC is driven by mutations in the NPC1 (95%) or NPC2 (5%) genes. These defects impair cholesterol and glycosphingolipid transport, leading to their accumulation within cells,...

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