Concepedia

Mutation analysis of feline Niemann–Pick C1 disease

Klaartje Somers

Molecular Genetics and Metabolism · 2003 · 69 citations · 13 references

DOI

Concepts

References

13

Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

Eugene D. Carstea, Jill A. Morris, Katherine Coleman et al. · Science · 1997 · 1.5K citations

, , +17

The Niemann-Pick C1 Protein Resides in a Vesicular Compartment Linked to Retrograde Transport of Multiple Lysosomal Cargo

Edward B. Neufeld, Meryl E. Wastney, Shutish C. Patel et al. · Journal of Biological Chemistry · 1999 · 375 citations · Full text

, , +17

Transmembrane Molecular Pump Activity of Niemann-Pick C1 Protein

Joanna P. Davies, Fannie W. Chen, Yiannis A. Ioannou · Science · 2000 · 324 citations

, , +17

Niemann–Pick C1 Is a Late Endosome-Resident Protein That Transiently Associates with Lysosomes and the Trans-Golgi Network

Maureen E. Higgins, Joanna P. Davies, Fannie W. Chen et al. · Molecular Genetics and Metabolism · 1999 · 260 citations

, , +14

Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.

M. T. Vanier, Sylvie Duthel, Claire Rodriguez‐Lafrasse et al. · PubMed · 1996 · 236 citations

, , +12