Niemann–Pick C research from mouse to gene

This publication has 22 references indexed in Scilit:

• Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis
  Science, 1997
• Restoration of the cholesterol metabolism in 3T3 cell lines derived from the sphingomyelinosis mouse (spm/spm) by transfer of a human chromosome 18
  Human Genetics, 1993
• A molecular genetic linkage map of mouse chromosome 18, includingspm, Grl-1, Fim-2/c-fms, andMbp
  Biochemical Genetics, 1991
• Isolation and characterization of Chinese hamster ovary cell mutants defective in intracellular low density lipoprotein-cholesterol trafficking.
  The Journal of cell biology, 1990
• The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts.
  The Journal of cell biology, 1989
• Niemann‐Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients
  Clinical Genetics, 1988
• A defect in cholesterol esterification in Niemann-Pick disease (type C) patients.
  Proceedings of the National Academy of Sciences, 1985
• A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase
  Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1980
• The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae.
  Proceedings of the National Academy of Sciences, 1966
• NIEMANN-PICK DISEASE
  Medicine, 1958