WORKPACKAGE 5

Study of the downstream events caused by the absence of BBS, OFD1, or NPHP

Leader of the workpackage is Philip Beales from University College London (London, UK).

This workpackage will focus on downstream pathway dysregulation events as a consequence of the absence of BBS, OFD1 and NPHP proteins in morphant fish and mutant mice.
1. Determine if the mTOR pathway is dysregulated in murine cystic kidneys;
2. Determine if there is a defect in autophagy in BBS/OFD1/NPHP mice;
3. Determine if Shh pathway is disrupted in BBS, OFD1 and NPHP morphant fish and mutant mouse embryos.