Article
Niemann-Pick disease type C.
Clinical genetics - 1 Oct 2003
Vanier M T, Millat G
Abstract excerpt
Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage with a wide spectrum of clinical phenotypes. At the cellular level, the disorder is characterized by accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system. Approximatively 95% of patients have mutations in the NPC1 gene (mapped at 18q11) which encodes a large membrane glycoprotein...
Topics
- Carrier Proteins
- Cholesterol
- Chromosomes, Human, Pair 14
- Chromosomes, Human, Pair 18
- Genes, Recessive
- Glycolipids
- Glycoproteins
- Humans
- Intracellular Signaling Peptides and Proteins
- Membrane Glycoproteins
- Models, Molecular
- Mutation
- Niemann-Pick C1 Protein
- Niemann-Pick Diseases
- Phenotype
- Structure-Activity Relationship
- Vesicular Transport Proteins