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Linking ER Function with Lysosomal Dysfunction

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The activity of certain genes is vital to cellular health as exemplified by familial forms of disease, yet the function of many of these genes is still not delineated. The aim of this study is to advance understanding of the molecular mechanisms linking mutations in resident proteins of the endoplasmic reticulum to dysfunction of lysosomes. The project will combine expertise in disease modelling and cellular signalling to study the functional coupling between CLN6, a transmembrane protein of the ER, and neuronal ceroid lipofuscinosis, a lysosomal storage disease.

Disciplines and Techniques
Project supervisor/s
Dr. Sara Mole
Sara is interested in disease caused by genetic changes and how study of these mutations and their effects can reveal important and complex aspects of cell biology that may otherwise be beyond current appreciation.
University College London
Professor Sandip Patel
Sandip is interested in the role of acidic organelles, such as lysosomes, in Ca2+ signalling in both health and disease.
University College London
References
Genetics of the neuronal ceroid lipofuscinoses (Batten disease).
Mole SE, Cotman SL.
Biochim Biophys Acta. ;1852(10 Pt B):2237-41. doi: 10.1016/j.bbadis.2015.05.011. Review.
2015 Oct
NCLs and ER: A stressful relationship.
Marotta D, Tinelli E, Mole SE.
Biochim Biophys Acta. ;1863(6):1273-1281. doi: 10.1016/j.bbadis.2017.04.003. Review.
2017 Apr 6
Coupling acidic organelles with the ER through Ca²⁺ microdomains at membrane contact sites
Penny CJ, Kilpatrick BS, Eden ER, Patel S.
Cell Calcium. ;58(4):387-96. doi: 10.1016/j.ceca.2015.03.006. Review
2015 Oct
An Endosomal NAADP-Sensitive Two-Pore Ca2+ Channel Regulates ER-Endosome Membrane Contact Sites to Control Growth Factor Signaling
Kilpatrick BS, Eden ER, Hockey LN, Yates E, Futter CE, Patel S
Cell Rep. ;18(7):1636-1645. doi: 10.1016/j.celrep
2017 Feb 14
Prevention of Photoreceptor Cell Loss in a Cln6nclf Mouse Model of Batten Disease
Kleine Holthaus SM, Ribeiro J, Abelleira-Hervas L, Pearson RA, Duran Y, Georgiadis A, Sampson RD, Rizzi M, Hoke J, Maswood R, Azam S, Luhmann UFO, Smith AJ, Mole SE, Ali RR.
Mol Ther. ;26(5):1343-1353. doi: 10.1016/j.ymthe.2018.02.027.
2018 May 2