Abstract
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 underlying neurodegenerative disease caused by mutations in resident proteins of the endoplasmic reticulum. 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.
References
- Mole SE, Cotman SL. Genetics of the neuronal ceroid lipofuscinoses (Batten disease). Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2237-41. doi: 10.1016/j.bbadis.2015.05.011. Review.
- Marotta D, Tinelli E, Mole SE. NCLs and ER: A stressful relationship. Biochim Biophys Acta. 2017 Apr 6;1863(6):1273-1281. doi: 10.1016/j.bbadis.2017.04.003. Review.
- Kilpatrick BS, Eden ER, Hockey LN, Yates E, Futter CE, Patel S. An Endosomal NAADP-Sensitive Two-Pore Ca2+ Channel Regulates ER-Endosome Membrane Contact Sites to Control Growth Factor Signaling.Cell Rep. 2017 Feb 14;18(7):1636-1645. doi: 10.1016/j.celrep.2017.01.052.