Research

We seek to understand the molecular causation of inborn errors of metabolism and to improve their outcome – conducting therapeutic research principally in the field of lysosomal disorders – with special reference to sphingolipidoses , most of  which affect the brain.

As an Internist and Metabolic Physician, Professor Tim Cox, with Drs Patrick Deegan, Paul Flynn, William Griffiths and Chong Yew Tan, has clinical interests in the disorders of fructose and iron metabolism, as well as sundry inborn errors of metabolism, such as porphyria and  alkaptonuria. The principal work focus of the clinical team includes patients with lysosomal diseases.

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Selected References

Pavlova EV, Archer J, Wang S, Dekker N, Aerts JMFG, Karlsson S, Cox TM. (2015). Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B cell malignancy. Journal of Pathology 235: 113–124. (E-pub Sept 25 2014)

Cox TM, Drelichman G, Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Rosenbloom B, Ross L, Angell J, Puga AC. (2015). Efficacy and safety of eliglustat compared with imiglucerase in Gaucher disease Type 1 stabilised on enzyme therapy. Lancet 385: (in press)

Cachón-González MB, Wang SZ, Ziegler R, Cheng SH, Cox TM. (2014). Reversibility of neuropathology in Tay-Sachs related  diseases. Human Molecular Genetics 23: 730-748.

Vitner EB, Salomon R, Farfel-Becker T, Meshcheriakova A, Ali M, Klein A, Shinder V, Cox TM, Futerman AH. (2014). RIP3 as a novel therapeutic target for Gaucher disease. Nature Medicine 20: 204-208.

Bowes O, Baxter K, Elsey T, Snead M, Cox T. (2014). Hereditary hyperferritinaemia cataract syndrome. Lancet 383 (9927):1520.

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