CLN3 is required for the clearance of glycerophosphodiesters from lysosomes.

ABSTRACT: Lysosomes have many roles, including degrading macromolecules and signalling to the nucleus¹. Lysosomal dysfunction occurs in various human conditions, such as common neurodegenerative diseases and monogenic lysosomal storage disorders (LSDs)^2-4. For most LSDs, the causal genes have been identified but, in some, the function of the implicated gene is unknown, in part because lysosomes occupy a small fraction of the cellular volume so that changes in lysosomal contents are difficult to detect. Here we develop the LysoTag mouse for the tissue-specific isolation of intact lysosomes that are compatible with the multimodal profiling of their contents. We used the LysoTag mouse to study CLN3, a lysosomal transmembrane protein with an unknown function. In children, the loss

SUBMITTER: Laqtom NN 

PROVIDER: S-EPMC10510443 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature