Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations

@article{Ribeiro2001NiemannPickTC,
  title={Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations},
  author={Isaura Ribeiro and Ana M Marc{\~a}o and Olga Amaral and M. Clara S{\'a} Miranda and Marie Th{\'e}r{\`e}se Vanier and Gilles Millat},
  journal={Human Genetics},
  year={2001},
  volume={109},
  pages={24-32}
}
Niemann-Pick type C disease (NPC) is a rare neurodegenerative disorder characterised by lysosomal/late endosomal accumulation of endocytosed unesterified cholesterol and delayed induction of cholesterol homeostatic reactions. The large majority of mutations in the NPC1 gene described thus far have been associated with severe cellular cholesterol trafficking impairment (classic biochemical phenotype, present in about 85% of NPC patients). In our population of 13 unrelated NP-C1 patients, among… CONTINUE READING