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Elucidating the molecular function of SNAP29 a gene mutated in CEDNIK syndrome

  • Full or part time
  • Application Deadline
    Applications accepted all year round
  • Self-Funded PhD Students Only
    Self-Funded PhD Students Only

Project Description

CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare fatal disease caused by the loss of SNAP29. SNAP29 is member of a family of proteins required for membrane transport and specifically vesicle fusion. We have rshown that SNAP29 is required for the fusion of secretory vesicles with the plasma membrane. Thus, our work suggests that CEDNIK syndrome may be in part be caused by a defect in constitutive secretion.
The aim of this project is to elucidate the molecular details of how SNAP29 functions. Specifically the project will: 1) Determine how SNAP29 is targeted and packaged into post-Golgi vesicles. 2) Identify proteins required for coordinating SNAP29s function. This project will use a combination of super-resolution microscopy, proteomics and CRISPR/Cas9 based techniques. This project has the potential to elucidate the molecular pathologies which underpin CEDNIK syndrome.

Science Graduate School
As a PhD student in one of the science departments at the University of Sheffield, you’ll be part of the Science Graduate School. You’ll get access to training opportunities designed to support your career development by helping you gain professional skills that are essential in all areas of science. You’ll be able to learn how to recognise good research and research behaviour, improve your communication abilities and experience the breadth of technologies that are used in academia, industry and many related careers. Visit to learn more.

Funding Notes

Entry requirements
First class or upper second 2(i) in a relevant subject. To formally apply for a PhD Studentship, you must complete the University's application form using the following link: View Website

*All applicants should ensure that both references are uploaded onto their application as a decision will be unable to be made without this information*.


"Gordon D.E., Bond L.M., Sahlender D.A. and Peden A.A. A targeted siRNA screen to identify SNAREs required for constitutive secretion in mammalian cells. 2010 Traffic. 11, 1191-1204.

Miller S.E., Sahlender D., Graham S., Hoening S., Robinson M.S. Peden A.A and Owen D.J. The Molecular Basis for the Endocytosis of Small R-SNAREs by the Clathrin Adaptor CALM. 2011 Cell 147, 1118-1131.

How good is research at University of Sheffield in Biological Sciences?

FTE Category A staff submitted: 44.90

Research output data provided by the Research Excellence Framework (REF)

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