p(HGNC:PSEN1) increases bp(GO:"vacuolar acidification")
Mutations in PS1 were shown to impair the acidification of lysosomes, which is necessary for activating the proteolytic enzymes in this compartment. Improper acidification and impaired proteolysis of substrates would compromise the autophagy system and result in the accumulation of AVs as described above.
BEL Commons is developed and maintained in an academic capacity by Charles Tapley Hoyt and Daniel Domingo-Fernández at the Fraunhofer SCAI Department of Bioinformatics with support from the IMI project, AETIONOMY. It is built on top of PyBEL, an open source project. Please feel free to contact us here to give us feedback or report any issues. Also, see our Publishing Notes and Data Protection information.
If you find BEL Commons useful in your work, please consider citing: Hoyt, C. T., Domingo-Fernández, D., & Hofmann-Apitius, M. (2018). BEL Commons: an environment for exploration and analysis of networks encoded in Biological Expression Language. Database, 2018(3), 1–11.