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).
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).
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).
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).
A review highlighting the pathophysiology of the NAADP-TPC-lysosomal calcium signalling mechanism in various cells and organs.Cell Calcium 58, 27-47 (2014).
A review outlining the concept of the endolysosomal system as a regulated calcium store.Biochem. J. 439, 349-374 (2011).
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).
A recent review of the mechanisms underlying lysosomal storage diseases.Nature 510, 68-75 (2014).
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).
Discovery of new anti-histamines by computational methods.Journal of Medicinal Chemistry 55, 7054-7060 (2012).