Cell Biology of Diseases Research Group
The
Cell Biology of Diseases Research Group (CBDRG) centres on medical research
relating to the endocytic network (endosomes and lysosomes) and its critical
role in cell function. Endosomes and lysosomes are directly involved in a
group of genetic diseases called lysosomal storage disorders, as well a
range of other disease states including heart disease, cancer, bone disease
and bacterial infection.
Led by NHMRC Senior Research Fellow Professor Doug Brooks, the CBDRG is
closely aligned with the world renowned Lysosomal Diseases Research Unit at
the Children, Youth and Women’s Health Service in Adelaide (CYWHS), where
Brooks is head of the Immunochemistry-Cell Biology Section.
As part of the Sansom Institute’s Molecular Medicine Sector, the CBDRG also
collaborates with other research groups including the Early Origins of Adult
Health Research Group (heart disease), the Bone Growth and Repair Research
Group (bone disease), and the Infectious Diseases and Microbiology Research
Group (infection and immunity), as well as other Sansom Institute sectors
and external research groups. CBDRG and Molecular Medicines Sector research
is closely aligned with the national priorities of Promoting and Maintaining
Good Health, A Healthy Start to Life, Aging Well and Preventative Health
Care.
The group is primarily supported through category 1 funding from the
National Health and Medical Research Council and Australian Research
Council, together with infrastructure and research support from the UniSA
and the Sansom Institute. It is also receives direct support from the Sansom
Institute and international grant funding.
People
Professor Doug Brooks – group leader
Dr Emma Parkinson-Lawrence – deputy group leader (Biophysical
Characterisation Facility manager)
Dr Rebecca Kakavanos-Plew – ARC research fellow (Australian Postdoctoral
Research Fellowship Industry)
Dr Mark Prodoehl – grant funded scientist (CYWHS)
Glenn Borlace – PhD student
Christopher Turner – PhD student (CYWHS)
Stacey Keep – PhD student
Karissa Phillis – PhD student (CYWHS)
Hilary Jones – PhD student
Ian Johnson – PhD student
Collaborators
Lysosomal Diseases Research Unit (CYWHS), including Professor John Hopwood,
Dr Maria Fuller, Dr Kim Hemsley and Dr Litsa Karageorgos.
Department of Genetic Medicine (CYWHS), including Associate Professor Jozef
Gecz, Dr Mark Corbett and Dr Cheryl Shoubridge.
Department of Gastroenterology (CYWHS), including Associate Professor Ross
Butler and Dr Jo Hawkes.
University of British Columbia, including Professor Lorne Clarke and Dr
Allison Kermode with whom we hold a joint Canadian Natural Sciences and
Engineering Research Council grant, which represents category 1 funding.
National Institute of Health (NIH), involving Professor Juan Bonifacino and
Dr G Mardones.
Pasteur Institute (Paris), involving Dr Pierre Lehn.
Harvard Medical School (USA), involving Dr Janice La Plante.
Bone Growth and Repair Research Group (Sansom Institute) Associate Professor
Cory Xian and Dr. Tetyana Shandala.
Early Origins of Adult Health Research Group (Sansom Institute), involving
Dr Janna Morrison and Professor Caroline McMillen.
Projects
Cell biology of endosomes and lysosomes
Screening strategies for lysosomal storage disorder and cancer patients
Role of vesicular transport in lysosomal storage disorder neuropathology
New and improved treatment strategies for lysosomal storage disorder
patients
Immunochemical and biophysical characterisation of mutant proteins
Prevalence of Helicobacter pylori in indigenous populations
Helicobacter pylori and altered phagosome maturation
Impact of foetal growth restriction on cardiomyocyte development
Publications
(2006-2008)
1. Kakavanos R, Lehn P, Callebaut I, Meikle PJ, Parkinson-Lawrence EJ,
Hopwood JJ, and Brooks DA. (2006) Common antigenicity for two glycosidases.
FEBS Letters. 580: 87-92. Impact Factor 3.372.
2. Dean CJ, Bockmann MR, Hopwood JJ, Brooks DA, and Meikle PJ. (2006)
Detection of mucopolysaccharidosis type II by measurement of
iduronate-2-sulfatase in dried blood-spots and plasma samples. Clinical
Chemistry. 52: 643-649. Impact Factor 5.454.
3. Brooks DA, Muller V, and Hopwood JJ. (2006) Stop codon read-through for
lysosomal storage disorder patients. Trends in Molecular Medicine,
12: 367-373. Impact Factor 5.864.
4. Meikle PJ, Grasby DJ, Dean CD, Lang D, Bockmann MR, Whittle AM, Fietz MJ,
Simonsen H, Fuller M, Brooks DA, and Hopwood JJ. (2006) Newborn screening
for lysosomal storage disorders. Molecular Genetics and Metabolism,
88: 307-314. Impact Factor 2.371.
5. Parkinson-Lawrence EJ, Fuller M, Hopwood JJ, Meikle PJ, and Brooks DA.
(2006) Review: Immunochemistry of lysosomal storage disorders. Clinical
Chemistry, 52: 1660-1668. Impact Factor 5.454.
6. Kakavanos R, Hopwood JJ, Lang D, Meikle PJ, and Brooks DA. (2006)
Stabilising normal and mutant a-glucosidase. FEBS Letters, 580:
4365-4370. Impact Factor 3.372.
7. Parkinson-Lawrence EJ, and Brooks DA. (2007) Book Chapter: Lysosomal
Biogenesis and Disease. In: Lysosomal Storage Disorders (J. Barranger
ed). Springer, CRC Press, Boca Raton, Florida USA. http://www.amazon.com/Lysosomal-Storage-Disorders-John-Barranger/dp/
0387709088/ ref=sr_1_3/105-6727723-575633?ie=UTF8&s=books&qid=1190004350&sr=8-3
8. Brooks DA, Turner C, Muller V, Hopwood JJ, Meikle PJ (2007) Book Chapter:
I-cell disease. In: Lysosomal Storage Disorders (J. Barranger ed).
Springer, CRC Press, Boca Raton, Florida USA. http://www.amazon.com/Lysosomal-Storage-Disorders-John-Barranger/dp/
0387709088/ ref=sr_1_3/105-6727723-4575633?ie=UTF8&s=books&qid=1190004350&sr=8-3
9. Parkinson-Lawrence EJ, Muller VJ, Hopwood JJ and Brooks DA. (2007)
N-Acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and
normal control samples. Clinica Chimica ACTA, 377: 88-91. Impact
Factor 2.328.
10. Karageorgos L, Brooks DA, Harmatz P, Ketteridge D, Pollard A, Melville
EL, Parkinson-Lawrence E, Clements PR, and Hopwood JJ. (2007) Mutational
analysis of mucopolysaccharidosis type VI patients undergoing a phase II
trial of enzyme replacement therapy. Molecular Genetics and Metabolism,
90: 164-170. Impact Factor 2.371.
11. Brooks DA. (2007) Getting into the fold. Nature Chemical Biology,
3: 84-85. Impact Factor 12.409.
12. Shoubridge C, Cloosterman D, Parkinson-Lawrence EJ, Brooks DA and Gecz
J. (2007) Molecular pathology of mutations in the ARX homeobox gene.
Genomics, 90:59-71. Impact Factor 3.558.
13. Karageorgos L, Brooks DA, Pollard A, Melville EL, Hein LK, Clements PR,
Ketteridge D, Swiedler SJ, Beck M, Giugliani R, Harmatz P, Wraith JE, Guffon
N, Sá Miranda MC, Teles EL, and Hopwood JJ. (2007) Mutational analysis of
105 mucopolysaccharidosis type VI patients. Human Mutation,
28:897-903. Impact Factor 6.473.
14. Tarpey PS, Raymond FL, 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) Loss
of function mutations in UPF3B, a member of the nonsense-mediated mRNA decay
surveillance complex, cause mental retardation. Nature Genetics,
39:1127-1133. Impact Factor 24.176.
15. Mardones GA, Burgos PV, Brooks DA, Parkinson-Lawrence EJ, Mattera R and
Bonifacino JS. (2007) The TGN accessory protein p56 cooperates with the GGA
adaptors in the biosynthetic sorting of cathepsin D to lysosomes.
Molecular Biology of the Cell, In press, June 27th Epub ahead of print.
Impact Factor 6.562.
16. Brooks DA and Fuller M. (2008) Lysosomal disorders. Wiley
Encyclopedia of Chemical Biology. In press pp 1-11.
17. Borlace G, Butler RN, and Brooks DA. (2008) Monocyte and Macrophage
Killing of Helicobacter pylori: relationship to bacterial pathogenicity
factors. Helicobacter, In press May 2008. Impact Factor 2.477.
18. Brooks DA. (2008) The endosomal network. International Journal of
Clinical Pharmacology and Therapeutics. Oxford PharmaGenesis™ Ltd. In
press June 2008.
Contact
For more information on the Cell Biology of Diseases Research Group
and its activities, please contact Professor Doug Brooks on:
Phone: +61 8 8302 1229
Email: doug.brooks@unisa.edu.au