The Genomic Organization and Polymorphism Analysis of the Human Niemann-Pick C1 Gene

This publication has 18 references indexed in Scilit:

• The Niemann-Pick C1 Protein Resides in a Vesicular Compartment Linked to Retrograde Transport of Multiple Lysosomal Cargo
  Journal of Biological Chemistry, 1999
• Niemann–Pick C disease: cholesterol handling gone awry
  Molecular Medicine Today, 1998
• The Nova Scotia (Type D) Form of Niemann-Pick Disease Is Caused by a G3097→T Transversion in NPC1
  American Journal of Human Genetics, 1998
• Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene
  Science, 1997
• Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis
  Science, 1997
• Sterol Resistance in CHO Cells Traced to Point Mutation in SREBP Cleavage–Activating Protein
  Cell, 1996
• Human Homolog of patched , a Candidate Gene for the Basal Cell Nevus Syndrome
  Science, 1996
• The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol
  Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1994
• Group C Niemann‐Pick disease: faulty regulation of low‐density lipoprotein uptake and cholesterol storage in cultured fibroblasts
  The FASEB Journal, 1987
• Nucleotide sequence of 3-hydroxy-3-methyl-glutaryl coenzyme A reductase, a glycoprotein of endoplasmic reticulum
  Nature, 1984