Montier, T. | Search bioRxiv

bioRxiv2021

Cutevariant: a GUI-based desktop application to explore genetics variations

Cutevariant is a user-friendly GUI based desktop application for genomic research designed to search for variations in DNA samples collected in annotated files and encoded in the Variant Calling Format. The application imports data into a local relational database wherefrom complex filter-queries can be built either from the intuitive GUI or using a Domain Specific Language (DSL). Cutevariant provides more features than any existing applications without compromising on performance. The plugin based architecture provides highly customizable features. Cutevariant is distributed as a multiplatform client-side software under an open source licence and is available at https://github.com/labsquare/Cutevariant. It has been designed from the beginning to be easily adopted by IT-agnostic end-users.

bioinformatics↗

bioRxiv2018

Cystinosin regulates kidney inflammation through its interaction with galectin-3

Inflammation is implicated in the pathogenesis of many disorders. Here, we show that cystinosin, protein defective in the lysosomal storage disorder cystinosis, is a critical regulator of galectin-3 during inflammation. Cystinosis is a lysosomal storage disorder and despite ubiquitous expression of cystinosin, kidney is the primary organ to be impacted by the disease. Here, we show that cystinosin interacts with galectin-3 and enhances its lysosomal localization and degradation. Galectin-3 is also found overexpressed in the kidney of the mouse model of cystinosis, Ctns-/-mice. Absence of galectin-3 in Ctns-/- mice led to a better renal function and structure, and decreased macrophage/monocyte infiltration in the kidney. Finally, galectin-3 interacts with a protein implicated in the recruitment of monocytes and macrophages during inflammation, Monocyte Chemoattractant Protein-1 (MCP1), that was found increased in the serum of Ctns-/- mice. These findings highlight a new role of cystinosin and galectin-3 interaction in inflammation, providing a mechanistic explanation for kidney disease pathogenesis in cystinosis, which may lead to the identification of new drug targets to delay its progression.

molecular biology↗