Elizabeth West

Nov 14, 2024 | biorxiv.org | Christopher Balak |Johannes C.M. Schlachetzki |Addison J. Lana |Elizabeth West

AbstractLysosomal dysfunction is causally linked to neurodegeneration in many lysosomal storage disorders (LSDs) and is associated with various age-related neurodegenerative diseases, but there is limited understanding of the mechanisms by which altered lysosomal function leads to changes in gene expression that drive pathogenic cellular phenotypes.

Mar 20, 2024 | onlinelibrary.wiley.com | Elizabeth West |Marco Chiappetta |Maria Teresa Congedo |Aubrey Anne Mattingly

1 INTRODUCTION BRCA-1 associated protein 1 (BAP1) (MIM: 603089) is a tumor suppressor gene with variants that may present an increased risk of tumor development.1, 2 The BAP1 tumor predisposition syndrome 1 (BAP1-TPDS1) (MIM: 614327) is associated with various cancers, such as uveal (MIM: 606661) and cutaneous (MIM:155600) melanoma, malignant pleural mesothelioma (MIM: 156240), renal carcinoma (MIM: 144700), meningioma (MIM: 607174), cholangiocarcinoma (MIM: 615619), and skin tumors; while...