Daniel J. Sillence

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

Emyr Lloyd‐Evans, Anthony J. Morgan, Xingxuan He et al. · Nature Medicine · 2008 · 833 citations

Life Sciences, Biochemistry, Molecular Biology +16

Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.

Barbara R. Migeon, H. W. Moser, Ann B. Moser et al. · Proceedings of the National Academy of Sciences · 1981 · 291 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype

Duncan B. Sparrow, Gavin Chapman, Merridee A. Wouters et al. · The American Journal of Human Genetics · 2005 · 247 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Accumulation of Glycosphingolipids in Niemann-Pick C Disease Disrupts Endosomal Transport

Daniëlle te Vruchte, Emyr Lloyd‐Evans, Robert Jan Veldman et al. · Journal of Biological Chemistry · 2004 · 196 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17

Analysis of fluorescently labeled glycosphingolipid-derived oligosaccharides following ceramide glycanase digestion and anthranilic acid labeling

David C. A. Neville, Virginie Coquard, David A. Priestman et al. · Analytical Biochemistry · 2004 · 178 citations

Life Sciences, Biochemistry, Molecular Biology +16