Dr Emma Parkinson-Lawrence

During my years as an undergraduate and post graduate student I developed an interest and passion for two areas of health and medical research; protein structure and function and disease pathogenesis. I have been fortunate to be able to link these two research areas and am focussed on studying the pathogenesis of disease in a group of genetic diseases called Lysosomal Storage Disorders.

Lysosomal storage disorders are a group of over 50 different devastating genetic diseases, caused by having an inactive or deficient protein of a series of proteins that normally break down waste products within a cell. As a result, waste products accumulate, becoming toxic to the cell, leading to the onset of devastating disease predominantly in children. Approximately two-thirds of lysosomal storage disorder patients suffer from brain disease and at present there is no effective treatment. Despite presenting as a major clinical problem, the molecular basis of this brain disease is poorly understood and herein lies the major focus of my research.

Cell Biology of Diseases Research Group

The Australian Society for Medical Research

• Cell Biology
• Protein Structure and Function

The Australian Society for Medical Research (ASMR)

B.Sc.(Hons Biochemistry) The University of Adelaide

PhD (Biochemistry) The University of Adelaide

Raymond FL, Tarpey PS, Nguyen LS, Rodriguez J, Hackett A, Shoubridge C, Vandeleur L, Smith R, Edkins S, Stevens C, O’Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Baht SS, Gardner A, Corbett M, Brooks DA, Thomas P, Parkinson-Lawrence EJ, Porteous M, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Easton DF, Wooster R, Bobrow M, Turner G, Partington M, Stevenson RE, Futreal PA, Schwartz CE, Srivastava AK, Stratton MR and Gécz J. (2007) Mutations in UPF3B, a member of the nonsensemediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet. 39(9), 1127-33

Parkinson-Lawrence EJ and Brooks DA. (2007) Lysosomal Biogenesis & Disease. In Lysosomal Diseases (J. Baringer, ed), CRC Press, Boca Raton, Florida

Mardones GA, Burgos PV, Brooks DA, Parkinson-Lawrence E, Mattera R, Bonifacino JS. (2007) The TGN Accessory Protein p56 Promotes Long-Range Movement of GG A/Clathrin-containing Transport Carriers and Lysosomal Enzyme Sorting. Mol Biol Cell. 18(9), 3486-501

Shoubridge C, Cloosterman D, Parkinson-Lawerence E, Brooks D, Gecz J. (2007) Molecular pathology of expanded polyalanine tract mutations in the ARX homeobox gene. Genomics 90(1), 59-71

Karageorgos L, Brooks DA, Harmatz P, Ketteridge D, Pollard A, Melville EL, Parkinson-Lawrence E, Clements PR, Hopwood JJ (2007) Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy. Mol Genet Metab 90(2), 164-70

Parkinson-Lawrence EJ, Muller V, Hopwood JJ, Brooks DA. (2007) N-Acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and normal control samples. Clin Chim Acta. 377, 88-91

Parkinson-Lawrence EJ, Fuller M, Meikle PJ, Hopwood JJ and Brooks DA (2006). Immunochemistry of Lysosomal Storage Disorders. Clin. Chem. 52, 1660-8

Kakavanos R, Lehn P, Callebaut I, Meikle PJ, Parkinson-Lawrence EJ, Hopwood JJ, Brooks DA. (2006) Common antigenicity for two glycosidases. FEBS Lett. 580, 87-92

Parkinson-Lawrence EJ, Dean C, Chang M, Hopwood JJ, Meikle PJ. and Brooks DA. (2005) Immunochemistry of CD107a. Cell. Immunol. 236, 161-166

Parkinson-Lawrence EJ, Turner CT, Hopwood JJ, and Brooks DA. (2005) Analysis of normal and mutant iduronate-2-sulphatase conformation. Biochem. J. 386, 395-400