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Cambridge Cardiovascular


My research focuses on role of glycosphingolipids in immune regulation and autoimmunity. To investigate this, I employed an inducible mouse model of Gaucher disease which prone to lymphoid tumours and autoimmune disease. I used innovative pharmaceutical inhibitors of glycosphingolipid synthesis to demonstrate that inhibition of glucosylceramide synthesis reduced lymphoproliferation and prevent myeloma/lymphoma in mouse model of Gaucher disease. This work was the first to demonstrate that inhibitors of glycosphingolipid synthesis can prevent lymphoproliferation and blood cancers, the main causes of death in patients with Gaucher disease.
To investigate glycosphingolipid intracellular trafficking, I studied pathophysiological mechanisms caused by disruptions in highly conservative tethering complexes HOPS/CORVET and endosome – lysosome dynamics in a novel lysosomal disease – MPS plus.

Biochemistry and Molecular Biology, Cancer, Genetics, Rare diseases


Key publications: 

Pavlova EV†, et al. (2019) The lysosomal disease caused by mutant VPS33A. Hum Mol Genet. ddz077. doi:10.1093/hmg/ddz077. †Corresponding author

Pavlova EV†, et al. Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B cell malignancy. J Pathol 2014. PMID: 25256118 DOI: 10.1002/path.4452. †Corresponding author

Pavlova EV†, Wang SZ, Archer J, et al. B cell lymphoma and myeloma in murine Gaucher’s disease. J Pathol 2013; 231(1): 88-97. †Corresponding author

Kramer, G., Wegdam, W., Donker-Koopman, W., Ottenhoff, R., Gaspar, P., Verhoek, M., Nelson, J., Gabriel, T., Kallemeijn, W., Boot, R. G., Laman, J. D., Vissers, J. P.C., Cox, T., Pavlova, E., Moran, M. T., Aerts, J. M. and van Eijk, M. (2016), Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models. FEBS Open Bio.

Marques AR, Mirzaian M, Akiyama H, Wisse P, Ferraz MJ, Gaspar P, Ghauharali-van der Vlugt K, Meijer R, Giraldo P, Alfonso P, Irún P, Dahl M, Karlsson S, Pavlova EV, Cox TM, Scheij S, Verhoek M, Ottenhoff R, van Roomen CP, Pannu NS, van Eijk M, Dekker N, Boot RG, Overkleeft HS, Blommaart E, Hirabayashi Y, Aerts JM. Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases. J Lipid Res. 2016 Jan 2.pii: jlr.M064923

Pavlova EV, Cox T M, Deegan PB. Biomarkers of Osteonecrosis in Gaucher disease. Expert Opinion on Medical Diagnostics. 2012 6:1, 1-13.

Elena V Pavlova, Patrick B Deegan, Jane Tindall, Ian McFarlane, Atul Mehta, Derralyn Hughes, J Edmond Wraith, and Timothy M Cox. Potential Biomarkers of Osteonecrosis in Gaucher Disease. Blood Cells Mol Dis. 2011 Jan 15; 46(1):27-33.

Deegan PB, Pavlova EV, Tindall J, Stein P, Bearcroft P, Mehta A, Hughes D, et al. Osseous Manifestations of Adult Gaucher Disease in the Emerging Era of Enzyme Replacement Therapy. Medicine (Baltimore). 2011 Jan; 90(1):52-60.

Research Fellow
Elena Pavlova


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