Partners

Participant 1

Christian-Albrechts-University Kiel

Partner 1:
Department of Biochemistry, University of Kiel, D-24018 Kiel, Germany

Laboratory background and technical information:
The department of Biochemistry is part of the medical faculty of the University Kiel and has a long standing interest in understanding the pathology of genetic defects that result in lysosomal storage disorders and lysosomal function in general.

Capacity to contribute to the project:
Partner 1 has generated and characterised the “classical” and immune-tolerant alpha-Mannosidosis mice. All the necessary equipment and facilities to perform ERT studies in mice and subsequent analyses are available and all methods and techniques related to ERT and mouse analyses are established in the laboratory. Partner 1 will organize and implement all preclinical mouse studies and subsequent analyses in close collaboration with Partner 4 and 9. In addition to the scientific contribution, partner 1 has a long standing experience as academic partner and coordinator of FP5 and FP6 EU networks. Therefore, within FP7, partner 1 will provide the Co-ordinator of ALPHA-MAN and will be part of the management team.

Personnel involved:

Paul Saftig (PhD, M), Professor, has a long-standing expertise on transgenic mice, lysosomal pathobiology, preclinical mouse studies and coordination and management of EU networks. He will be the Co-ordinator of the consortium and will be involved in management activities.
Judith Blanz (PhD, F), Senior Scientist, has already participated in the HUE-MAN network and has long-standing experiences in preclinical ERT studies, mouse analyses and management activities within an EU-network. She will be involved in supervising the ERT experiments as well as coordination and management of the ALPHA-MAN network.
Post Doc (PhD, M/F) Post Doc, will be involved in performing all ERT studies and ERT related experiments as well as data evaluation and presentation at the internal ALPHA-MAN meetings.
Inez Götting (F), Technical assistance, has already participated in the HUE-MAN network and is experienced in ERT studies and mouse analyses. She will be involved in the maintenance of the mouse breedings and performance of ERT related experiments.

Key Publications:

Saftig, P. and Klumperman, J. (2009): Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function. Nat. Rev. Moll. Cell Biol., 10,623-635
Blanz, J., Stroobants, S., Lüllmann-Rauch, R., Morelle,W., Lüdemann, M., D’Hooge, R., Reuterwall, H., Michalski, J.C., Fogh, J., Andersson, C., Saftig, P. (2008) Reversal of peripheral and central nervous storage and ataxia after recombinant enzyme replacement tharapy in alpha-mannosidosis mice. Hum. Mol. Genet. , 17,3437-3445
Reczek, D., Schwake, M., Schröder,J., Hughes, H., Blanz, J., Jin, X., Brondyk, W., Van Patten, S., Edmunds, T., Saftig, P. (2007) LIMP-2 is a receptor for lysosomal mannose 6-phosphate independent targeting of beta-glucocerebrosidase; Cell, 131, 770-783
D’Hooge, R., Lüllmann-Rauch, R., Beckers, T., Balschun, D., Schwake, M., Reiss, K., von Figura, K., Saftig, P. (2005) Neurocognitive and psychotiform behavioral alterations and enhanced hippocampal long-term potentiation in transgenic mice displaying neuropathological features of human alpha-mannosidosis. J. Neuroscience, 25: 6589-6549.