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Updated: Dec 31, 2025

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
Published on: September 1, 2015
Glycosphingolipid metabolism and polycystic kidney disease
Thomas A Natoli1, Vijay Modur2, Oxana Ibraghimov-Beskrovnaya1
1Rare and Neurological Disease Research, Sanofi-Genzyme, 49 New York Ave., Framingham, MA 01701, USA.
Abstract:
Sphingolipids and glycosphingolipids are classes of structurally and functionally important lipids that regulate multiple cellular processes, including membrane organization, proliferation, cell cycle regulation, apoptosis, transport, migration, and inflammatory signalling pathways. Imbalances in sphingolipid levels or subcellular localization result in dysregulated cellular processes and lead to the development and progression of multiple disorders, including polycystic kidney disease. This review will describe metabolic pathways of glycosphingolipids with a focus on the evidence linking glycosphingolipid mediated regulation of cell signalling, lipid microdomains, cilia, and polycystic kidney disease. We will discuss molecular mechanisms of glycosphingolipid dysregulation and their impact on cystogenesis. We will further highlight how modulation of sphingolipid metabolism can be translated into new approaches for the treatment of polycystic kidney disease and describe current clinical studies with glucosylceramide synthase inhibitors in Autosomal Dominant Polycystic Kidney Disease.
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