Bremova T, Malinová V, Amraoui Y, Mengel E, Reinke J, Kolníková M, Strupp M.

Demonstrates that Acetyl-DL-Leucine treatment is associated with improvements in ataxia and quality of life in patients with Niemann-Pick Disease Type C.Neurology 85, 1368-1375 (2015).

Strupp M, Teufel J, Habs M, Feuerecker R, Muth C, van de Warrenburg BP, Klopstock T, Feil K.

A paper exhibiting the significant benefit of Acetyl-DL-Leucine in the treatment of patients with cerebellar ataxia.Journal of Neurology 260, 2556-2561 (2013).

Platt, F., Strupp, M.

A case study demonstrating that, in addition to being of benefit in patients with cerebellar ataxia and Niemann-Pick disease type C, acetyl-DL-leucine can increase mobility and quality of life in a healthy elderly subject.Journal of Neurology 263, 1239-40 (2016).

Lloyd-Evans, E., Morgan, A. J., He, X., Smith, D. A., Elliot-Smith, E., Sillence, D. J., Churchill, G. C., Schuchman, E. H., Galione, A., and Platt, F. M.

Defines the rare lysosomal storage disease Niemann-Pick type C as the first human disease resulting from endolysosomal calcium dysfunction, and demonstrates that correction of cellular calcium homeostasis can improve disease symptoms.Nature Medicine 14, 1247-1255 (2008).

Galione, A.

A review highlighting the pathophysiology of the NAADP-TPC-lysosomal calcium signalling mechanism in various cells and organs.Cell Calcium 58, 27-47 (2014).

Morgan, A. J., Platt, F. M., Lloyd-Evans, E. & Galione, A.

A review outlining the concept of the endolysosomal system as a regulated calcium store.Biochem. J. 439, 349-374 (2011).

Naylor, E., Arredouani, A., Vasudevan, S. R., Lewis, A. M., Parkesh, R., Mizote, A., Rosen, D., Thomas, J. M., Izumi, M., Ganesan, A., Galione, A., and Churchill, G. C.

A paper outlining the use of in silico drug discovery software to generate a selective inhibitor of NAADP/Two-Pore Channel-mediated calcium signalling.Nat. Chem. Biol. 5, 220-226 (2009).

Platt, F. M.

A recent review of the mechanisms underlying lysosomal storage diseases.Nature 510, 68-75 (2014).

Ruas, M., Davis, L. C., Chen, C. C., Morgan, A. J., Chuang, K. T., Walseth, T. F., Grimm, C., Garnham, C., Powell, T., Platt, F. M., Biel, M., Wahl-Schott, C., Parrington, J., and Galione, A.

Recent paper showing that Two-Pore Channels are integral components of the NAADP-sensitive Ca2+ release mechanism in the endolysosomal system.Embo J. 34, 1743-58 (2015).

Vasudevan, S. R., Moore, J. B., Schymura, Y., and Churchill, G. C.

Discovery of new anti-histamines by computational methods.Journal of Medicinal Chemistry 55, 7054-7060 (2012).