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 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.
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