Concepedia

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

Emyr Lloyd‐Evans, Anthony J. Morgan, Xingxuan He, David A. Smith, Elena Elliot-Smith, Daniel J. Sillence, Grant C. Churchill, Edward H. Schuchman, Frances M. Platt

Nature Medicine · 2008 · 833 citations · 42 references

DOI

Concepts

References

42

Identification of <i>HE1</i> as the Second Gene of Niemann-Pick C Disease

Saule Naureckiene, David E. Sleat, Henry Lackland et al. · Science · 2000 · 829 citations

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SphK1 and SphK2, Sphingosine Kinase Isoenzymes with Opposing Functions in Sphingolipid Metabolism

Michael Maceyka, Heidi Sankala, Nitai C. Hait et al. · Journal of Biological Chemistry · 2005 · 635 citations · Full text

, , +14

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

Marc C. Patterson, Darleen Vecchio, Helena Prady et al. · The Lancet Neurology · 2007 · 610 citations · Full text

, , +3

pH-dependent regulation of lysosomal calcium in macrophages

Ken Christensen, Jesse T. Myers, Joel A. Swanson · Journal of Cell Science · 2002 · 539 citations

, , +17

NAADP Mobilizes Ca2+ from Reserve Granules, Lysosome-Related Organelles, in Sea Urchin Eggs

Grant C. Churchill, Yuhei Okada, Justyn M. Thomas et al. · Cell · 2002 · 455 citations · Full text

, , +14