Niemann-Pick type C disease (NPC) is characterized by neurodegeneration secondary to
impaired cholesterol trafficking and excessive glycosphingolipid storage. Abnormal …

Niemann-Pick Type C (NPC) is an inherited neurodegenerative disease of childhood and
adolescence that develops from a failure of cholesterol trafficking within the endosomal …

Abstract Niemann‐Pick type C (NPC) disease is an autosomal recessive neurodegenerative
disorder characterized by intracellular accumulation of cholesterol and glycosphingolipids in …

Objective: Niemann-Pick disease type C (NPC) is an inherited disorder characterized by
intracellular accumulation of lipids such as cholesterol and glycosphingolipids in …

Niemann-Pick disease type C (NPC) is an autosomal recessive disease most commonly
caused by a mutation of NPC1, resulting in the accumulation of cholesterol in late …

Background Niemann-Pick Type C (NPC) disease is a neurodegenerative disease that is
characterized by the accumulation of cholesterol and glycosphingolipids in the late …

Niemann–Pick type C disease is a neurovisceral storage disorder. Neurofibrillary tangles
similar to those in Alzheimer's disease have been reported in most juvenile/adult patients …

Niemann-Pick type C1 disease (NPC1) is an autosomal recessive neurovisceral storage
disease caused by the mutation of NPC1 gene, resulting in perturbed intracellular transport …

Niemann-Pick type C1 disease is an autosomal-recessive lysosomal storage disorder. Loss
of function of the npc1 gene leads to abnormal accumulation of free cholesterol and …

The Niemann-Pick type C1 (NPC1) protein mediates the trafficking of cholesterol from
lysosomes to other organelles. Mutations in the NPC1 gene lead to the retention of …