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

By Emyr Lloyd-Evans, A. Morgan, Xingxuan He, David A Smith, Elena Elliot-Smith, D. Sillence, G. Churchill, E. Schuchman, A. Galione, F. Platt. Nature Medicine, 2008

848 citations recorded by the source corpus.

Subfields: Molecular Biology, Physiology

View Paper: https://www.semanticscholar.org/paper/2fea0cc3154f6492ef891d02b03c0a693a89f305

How researchers see this paper

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In Molecular Biology

1. Fiona M Menzies
2. Dejian Ren
3. D. Rubinsztein
4. Haoxing Xu
5. I. Slaninová
6. N. Mizushima
7. M. Jäättelä
8. M. Høyer-Hansen

In Physiology

1. Dejian Ren
2. D. Rubinsztein
3. Haoxing Xu

Citations in the corpus

• Lipid map of the mammalian cell (2011, background): “NPC1 might also translocate lumenal sphingoid bases, which are positively charged at lysosomal pH, across the lysosomal membrane (Lloyd-Evans et al., 2008).”
• The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction. (2012, neutral): “In NPC1 patient cells and cultured cells deficient in NPC1 protein, calcium levels within acidic organelles are approximately 30% of wild-type cells (Lloyd-Evans et al., 2008; H. Lee et al., 2010).”
• Niemann-Pick disease type C (2010, methodology): “It has also been postulated that sphingosine storage could be the primary trigger of a pathogenic cascade in NP-C since this lipid can disrupt calcium homeostasis in NPC1 lysosomes [85,86].”
• The lysosome: from waste bag to potential therapeutic target. (2013, background): “Lysosomes contain up to 600 mM calcium (Christensen et al., 2002; Lloyd-Evans et al., 2008), not dissimilar from the concentration described for the classic calcium storage organelle, the endoplasmic reticulum (Bygrave and Benedetti, 1996).”
• Autophagy and Neurodegeneration: Pathogenic Mechanisms and Therapeutic Opportunities. (2017, positive): “…function, leads to impaired Ca2+ homoeostasis and incorrect cholesterol trafficking with accumulation of unesterified cholesterol and glycosphingolipids in lysosomes and late endosomes, disrupting their fusion (Lloyd-Evans et al., 2008; Lloyd-Evans and Platt, 2010; Pacheco and Lieberman, 2008).”
• Lysosomal Physiology (2015, background): “Mutations in NPC1 lead to lysosomal accumulation of cholesterol and sphingolipids, resulting in an LSD termed Niemann-Pick type C (NPC) (31, 58).”