Serum N-glycosylation is altered in Nephropathic Cystinosis.

ABSTRACT: Changes in glycosylation can serve as markers for rare genetic disorders, including lysosomal storage diseases (LSDs). Nephropathic Cystinosis (NC), caused by mutations in the CTNS gene, is characterised by cystine accumulation in lysosomes due to dysfunctional cystinosin, a heavily N-glycosylated lysosomal transporter. We analysed total serum and IgG N-glycosylation using hydrophilic interaction ultra performance liquid chromatography (HILIC-UPLC) to explore the diagnostic biomarker capabilities and their pathophysiological relevance in NC. In this double-blind study (n = 12), we examined N-glycosylation of total serum and serum IgG from Irish participants with and without NC. Dimensionality reduction methods were used applying their glycan data to predict NC status, yet only modest predi

SUBMITTER: Cislaru A 

PROVIDER: S-EPMC12406699 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature